KEGG   Homo sapiens (human): 10368Help
Entry
10368             CDS       T01001                                 

Gene name
CACNG3
Definition
(RefSeq) calcium voltage-gated channel auxiliary subunit gamma 3
  KO
K04868  
voltage-dependent calcium channel gamma-3
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Oxytocin signaling pathway
Hypertrophic cardiomyopathy (HCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Dilated cardiomyopathy (DCM)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    10368 (CACNG3)
 Organismal Systems
  Endocrine system
   04921 Oxytocin signaling pathway
    10368 (CACNG3)
  Circulatory system
   04260 Cardiac muscle contraction
    10368 (CACNG3)
   04261 Adrenergic signaling in cardiomyocytes
    10368 (CACNG3)
 Human Diseases
  Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    10368 (CACNG3)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    10368 (CACNG3)
   05414 Dilated cardiomyopathy (DCM)
    10368 (CACNG3)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN gamma
   10368 (CACNG3)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
O60359(Tbio)
UniProt: 
Position
16p12.1
AA seq 315 aa AA seqDB search
MRMCDRGIQMLITTVGAFAAFSLMTIAVGTDYWLYSRGVCRTKSTSDNETSRKNEEVMTH
SGLWRTCCLEGAFRGVCKKIDHFPEDADYEQDTAEYLLRAVRASSVFPILSVTLLFFGGL
CVAASEFHRSRHNVILSAGIFFVSAGLSNIIGIIVYISANAGDPGQRDSKKSYSYGWSFY
FGAFSFIIAEIVGVVAVHIYIEKHQQLRAKSHSEFLKKSTFARLPPYRYRFRRRSSSRST
EPRSRDLSPISKGFHTIPSTDISMFTLSRDPSKITMGTLLNSDRDHAFLQFHNSTPKEFK
ESLHNNPANRRTTPV
NT seq 948 nt NT seq  +upstreamnt  +downstreamnt
atgaggatgtgtgacagaggtatccagatgttgatcaccactgtaggagcctttgccgct
tttagtttaatgaccattgcagtgggcacggactactggttatattccagaggtgtgtgc
aggactaaatctacaagtgataatgaaaccagcaggaagaatgaagaagtaatgacccat
tcggggctgtggaggacctgctgcctagaaggggctttccgaggcgtgtgcaagaaaatc
gatcacttccctgaagatgctgactacgaacaggacacagccgaatatctcctgcgagct
gtgagggcctccagtgtcttccccatcctcagtgtcacgctgctgttcttcggcgggctc
tgcgtggcagccagtgagttccaccgcagcagacacaacgtcattctcagcgcgggcatc
ttttttgtctctgcagggttaagcaacatcattggcatcatagtttatatatcagccaac
gccggagaccccgggcagcgtgactccaaaaaaagttactcctatggttggtccttttat
ttcggagccttctctttcatcatcgcagaaattgtaggagtggttgccgtgcacatctat
attgaaaaacatcagcagttacgagccaaatcccactcggagttcctgaagaaatctact
tttgcccgcctcccaccctacaggtatcgattccggaggcggtcaagttctcgctccacc
gagcccagatcccgagacctgtcccccatcagcaaaggcttccacaccatcccttccact
gacatctcgatgttcaccctctcccgggacccctcaaagatcaccatggggaccctcctc
aactccgaccgggaccacgcttttctacagttccacaattccacacccaaagagttcaaa
gagtcactgcataataatccggccaacaggcgcaccacgcccgtctga

KEGG   Homo sapiens (human): 10369Help
Entry
10369             CDS       T01001                                 

Gene name
CACNG2, MRD10
Definition
(RefSeq) calcium voltage-gated channel auxiliary subunit gamma 2
  KO
K04867  
voltage-dependent calcium channel gamma-2
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Oxytocin signaling pathway
Hypertrophic cardiomyopathy (HCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Dilated cardiomyopathy (DCM)
Disease
H00773  
Autosomal dominant mental retardation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    10369 (CACNG2)
 Organismal Systems
  Endocrine system
   04921 Oxytocin signaling pathway
    10369 (CACNG2)
  Circulatory system
   04260 Cardiac muscle contraction
    10369 (CACNG2)
   04261 Adrenergic signaling in cardiomyocytes
    10369 (CACNG2)
 Human Diseases
  Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    10369 (CACNG2)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    10369 (CACNG2)
   05414 Dilated cardiomyopathy (DCM)
    10369 (CACNG2)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN gamma
   10369 (CACNG2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
Q9Y698(Tbio)
UniProt: 
Position
22q12.3
AA seq 323 aa AA seqDB search
MGLFDRGVQMLLTTVGAFAAFSLMTIAVGTDYWLYSRGVCKTKSVSENETSKKNEEVMTH
SGLWRTCCLEGNFKGLCKQIDHFPEDADYEADTAEYFLRAVRASSIFPILSVILLFMGGL
CIAASEFYKTRHNIILSAGIFFVSAGLSNIIGIIVYISANAGDPSKSDSKKNSYSYGWSF
YFGALSFIIAEMVGVLAVHMFIDRHKQLRATARATDYLQASAITRIPSYRYRYQRRSRSS
SRSTEPSHSRDASPVGIKGFNTLPSTEISMYTLSRDPLKAATTPTATYNSDRDNSFLQVH
NCIQKENKDSLHSNTANRRTTPV
NT seq 972 nt NT seq  +upstreamnt  +downstreamnt
atggggctgtttgatcgaggtgttcaaatgcttttaaccaccgttggtgctttcgctgcc
ttcagcctgatgaccatagctgtgggaaccgactattggctctactccagaggggtttgc
aagaccaaaagtgtcagtgagaatgaaaccagcaaaaagaacgaggaagttatgacccat
tccggattatggagaacctgctgcctagaagggaatttcaaaggtctgtgcaagcaaatt
gatcacttcccagaggatgcagattacgaagctgacacagcagaatatttcctccgggcc
gtgagggcctccagcattttcccaatcctgagtgtgattctgcttttcatgggtggcctc
tgcatcgcagccagcgagttctacaaaactcgacacaacatcatcctgagtgccggcatc
ttcttcgtgtctgcaggtctgagtaacatcattggcatcatagtgtacatatctgccaat
gccggagacccctccaagagcgactccaaaaagaatagttactcatacggctggtccttc
tacttcggggccctgtccttcatcatcgccgagatggtcggggtgctggcggtgcacatg
tttatcgaccggcacaaacagctgcgggccacggcccgcgccacggactacctccaggcc
tctgccatcacccgcatccccagctaccgctaccgctaccagcgccgcagccgctccagc
tcgcgctccacggagccctcacactccagggacgcctcccccgtgggcatcaagggcttc
aacaccctgccgtccacggagatctccatgtacacgctcagcagggaccccctgaaggcc
gccaccacgcccaccgccacctacaactccgacagggataacagcttcctccaggttcac
aactgtatccagaaggagaacaaggactctctccactccaacacagccaaccgccggacc
acccccgtataa

KEGG   Homo sapiens (human): 27091Help
Entry
27091             CDS       T01001                                 

Gene name
CACNG5
Definition
(RefSeq) calcium voltage-gated channel auxiliary subunit gamma 5
  KO
K04870  
voltage-dependent calcium channel gamma-5
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Oxytocin signaling pathway
Hypertrophic cardiomyopathy (HCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Dilated cardiomyopathy (DCM)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    27091 (CACNG5)
 Organismal Systems
  Endocrine system
   04921 Oxytocin signaling pathway
    27091 (CACNG5)
  Circulatory system
   04260 Cardiac muscle contraction
    27091 (CACNG5)
   04261 Adrenergic signaling in cardiomyocytes
    27091 (CACNG5)
 Human Diseases
  Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    27091 (CACNG5)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    27091 (CACNG5)
   05414 Dilated cardiomyopathy (DCM)
    27091 (CACNG5)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN gamma
   27091 (CACNG5)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
Q9UF02(Tdark)
UniProt: 
Position
17q24.2
AA seq 275 aa AA seqDB search
MSACGRKALTLLSSVFAVCGLGLLGIAVSTDYWLYLEEGVIVPQNQSTEIKMSLHSGLWR
VCFLAGEERGRCFTIEYVMPMNTQLTSESTVNVLKMIRSATPFPLVSLFFMFIGFILNNI
GHIRPHRTILAFVSGIFFILSGLSLVVGLVLYISSINDEMLNRTKDAETYFNYKYGWSFA
FAAISFLLTESAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQFLHPDAWVRG
RSPSDISSEASLQMNSNYPALLKCPDYDQMSSSPC
NT seq 828 nt NT seq  +upstreamnt  +downstreamnt
atgagtgcctgcgggaggaaggccctgaccctgctgagcagtgtctttgctgtctgtggc
ttgggcctcctgggtatcgcggtcagcaccgactactggctgtacctggaggagggtgtg
attgtgccccagaaccagagcaccgagatcaagatgtccctgcactcaggcctctggcgg
gtctgcttccttgcaggtgaggagcgggggcgttgcttcaccatagaatatgtgatgccc
atgaacacccagctgacatccgagtccacggtcaatgttctaaagatgatccgctcagcc
acaccattccctctggtcagcctcttcttcatgttcattgggtttatcctgaacaacatc
ggacacatccgtccccaccggacgatactggcctttgtctctggcatcttctttatcctc
tcaggcctctctctcgtggtgggcctggtgctctacatctccagcatcaacgatgagatg
ctcaacaggaccaaggatgcagagacctacttcaactacaagtatgggtggtcgtttgcc
ttcgccgccatctccttccttttaacggagagtgccggggtgatgtctgtgtacctgttt
atgaagcggtacaccgcggaggacatgtacaggccccaccctggcttctaccgccctcgg
ctgagcaactgctccgattactcaggccagttcctacacccagacgcctgggtcaggggc
cgcagcccctccgacatctccagcgaggcctccctgcagatgaacagcaactaccccgcc
ttgctcaagtgccccgactatgatcagatgtcctcttcaccctgctga

KEGG   Homo sapiens (human): 27092Help
Entry
27092             CDS       T01001                                 

Gene name
CACNG4
Definition
(RefSeq) calcium voltage-gated channel auxiliary subunit gamma 4
  KO
K04869  
voltage-dependent calcium channel gamma-4
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Oxytocin signaling pathway
Hypertrophic cardiomyopathy (HCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Dilated cardiomyopathy (DCM)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    27092 (CACNG4)
 Organismal Systems
  Endocrine system
   04921 Oxytocin signaling pathway
    27092 (CACNG4)
  Circulatory system
   04260 Cardiac muscle contraction
    27092 (CACNG4)
   04261 Adrenergic signaling in cardiomyocytes
    27092 (CACNG4)
 Human Diseases
  Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    27092 (CACNG4)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    27092 (CACNG4)
   05414 Dilated cardiomyopathy (DCM)
    27092 (CACNG4)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN gamma
   27092 (CACNG4)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
Q9UBN1(Tdark)
UniProt: 
Position
17q24.2
AA seq 327 aa AA seqDB search
MVRCDRGLQMLLTTAGAFAAFSLMAIAIGTDYWLYSSAHICNGTNLTMDDGPPPRRARGD
LTHSGLWRVCCIEGIYKGHCFRINHFPEDNDYDHDSSEYLLRIVRASSVFPILSTILLLL
GGLCIGAGRIYSRKNNIVLSAGILFVAAGLSNIIGIIVYISSNTGDPSDKRDEDKKNHYN
YGWSFYFGALSFIVAETVGVLAVNIYIEKNKELRFKTKREFLKASSSSPYARMPSYRYRR
RRSRSSSRSTEASPSRDVSPMGLKITGAIPMGELSMYTLSREPLKVTTAASYSPDQEASF
LQVHDFFQQDLKEGFHVSMLNRRTTPV
NT seq 984 nt NT seq  +upstreamnt  +downstreamnt
atggtgcgatgcgaccgcgggctgcagatgctgctgaccacggccggagccttcgccgcc
ttctcgctcatggccatcgccatcggcaccgactactggctgtactccagcgcgcacatc
tgcaacggcaccaacctgaccatggacgacgggcccccgccccgccgcgcccgcggcgac
ctcacccactctggtctgtggcgggtgtgctgcatcgaagggatctataaagggcactgc
ttccggatcaatcacttcccagaggacaatgactacgaccacgacagctcggagtacctc
ctccgcatcgtgcgagcctccagcgtcttccccatcctcagcaccatcctgctcctgctg
ggtggcctgtgcatcggtgctggcaggatctacagccgcaagaacaacatcgtcctcagt
gccggcatcctcttcgtggctgcaggcctcagtaacatcatcggtatcatcgtctacatt
tccagcaacacaggtgacccgagtgacaagcgggacgaagacaaaaagaaccattacaac
tacggctggtctttttactttggagctctgtctttcattgtggctgagaccgtgggcgtc
ctggctgtaaacatttacattgagaaaaataaagagttgaggtttaagaccaaacgggaa
ttccttaaggcgtcttcctcttctccttatgccaggatgccgagctacaggtaccggcga
cggcgctcgaggtccagctcaaggtccaccgaggcctcgccctccagggacgtgtcgccc
atgggcctgaagatcacaggggccatccccatgggggagctgtccatgtacacgctgtcc
agggagcccctcaaggtgaccaccgcagccagctacagccccgaccaggaggccagcttc
ctgcaggtgcatgactttttccagcaggacctgaaggaaggtttccacgtcagcatgctg
aaccgacggacgacccctgtgtga

KEGG   Homo sapiens (human): 55799Help
Entry
55799             CDS       T01001                                 

Gene name
CACNA2D3, HSA272268
Definition
(RefSeq) calcium voltage-gated channel auxiliary subunit alpha2delta 3
  KO
K04860  
voltage-dependent calcium channel alpha-2/delta-3
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Oxytocin signaling pathway
Hypertrophic cardiomyopathy (HCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Dilated cardiomyopathy (DCM)
Drug target
Gabapentin: 
Gabapentin (DG01245): 
Pregabalin: 
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    55799 (CACNA2D3)
 Organismal Systems
  Endocrine system
   04921 Oxytocin signaling pathway
    55799 (CACNA2D3)
  Circulatory system
   04260 Cardiac muscle contraction
    55799 (CACNA2D3)
   04261 Adrenergic signaling in cardiomyocytes
    55799 (CACNA2D3)
 Human Diseases
  Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    55799 (CACNA2D3)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    55799 (CACNA2D3)
   05414 Dilated cardiomyopathy (DCM)
    55799 (CACNA2D3)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN alpha-2 delta
   55799 (CACNA2D3)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
Q8IZS8(Tbio)
UniProt: 
Position
3p21.1-p14.3
AA seq 1091 aa AA seqDB search
MAGPGSPRRASRGASALLAAALLYAALGDVVRSEQQIPLSVVKLWASAFGGEIKSIAAKY
SGSQLLQKKYKEYEKDVAIEEIDGLQLVKKLAKNMEEMFHKKSEAVRRLVEAAEEAHLKH
EFDADLQYEYFNAVLINERDKDGNFLELGKEFILAPNDHFNNLPVNISLSDVQVPTNMYN
KDPAIVNGVYWSESLNKVFVDNFDRDPSLIWQYFGSAKGFFRQYPGIKWEPDENGVIAFD
CRNRKWYIQAATSPKDVVILVDVSGSMKGLRLTIAKQTVSSILDTLGDDDFFNIIAYNEE
LHYVEPCLNGTLVQADRTNKEHFREHLDKLFAKGIGMLDIALNEAFNILSDFNHTGQGSI
CSQAIMLITDGAVDTYDTIFAKYNWPDRKVRIFTYLIGREAAFADNLKWMACANKGFFTQ
ISTLADVQENVMEYLHVLSRPKVIDQEHDVVWTEAYIDSTLPQAQKLTDDQGPVLMTTVA
MPVFSKQNETRSKGILLGVVGTDVPVKELLKTIPKYKLGIHGYAFAITNNGYILTHPELR
LLYEEGKKRRKPNYSSVDLSEVEWEDRDDVLRNAMVNRKTGKFSMEVKKTVDKGKRVLVM
TNDYYYTDIKGTPFSLGVALSRGHGKYFFRGNVTIEEGLHDLEHPDVSLADEWSYCNTDL
HPEHRHLSQLEAIKLYLKGKEPLLQCDKELIQEVLFDAVVSAPIEAYWTSLALNKSENSD
KGVEVAFLGTRTGLSRINLFVGAEQLTNQDFLKAGDKENIFNADHFPLWYRRAAEQIPGS
FVYSIPFSTGPVNKSNVVTASTSIQLLDERKSPVVAAVGIQMKLEFFQRKFWTASRQCAS
LDGKCSISCDDETVNCYLIDNNGFILVSEDYTQTGDFFGEIEGAVMNKLLTMGSFKRITL
YDYQAMCRANKESSDGAHGLLDPYNAFLSAVKWIMTELVLFLVEFNLCSWWHSDMTAKAQ
KLKQTLEPCDTEYPAFVSERTIKETTGNIACEDCSKSFVIQQIPSSNLFMVVVDSSCLCE
SVAPITMAPIEIRYNESLKCERLKAQKIRRRPESCHGFHPEENARECGGAPSLQAQTVLL
LLPLLLMLFSR
NT seq 3276 nt NT seq  +upstreamnt  +downstreamnt
atggccgggccgggctcgccgcgccgcgcgtcccggggggcctcggcgcttctcgctgcc
gcgcttctctacgccgcgctgggggacgtggtgcgctcggagcagcagataccgctctcc
gtggtgaagctctgggcctcggcttttggtggggagataaaatccattgctgctaagtac
tccggttcccagcttctgcaaaagaaatacaaagagtatgagaaagacgttgccatagaa
gaaatcgatggcctccaactggtaaagaagctggcaaagaacatggaagagatgtttcac
aagaagtctgaggccgtcaggcgtctggtggaggctgcagaagaagcacacctgaaacat
gaatttgatgcagacttacagtatgaatacttcaatgctgtgctgataaatgaaagggac
aaagacgggaattttttggagctgggaaaggaattcatcttagccccaaatgaccatttt
aataatttgcctgtgaacatcagtctaagtgacgtccaagtaccaacgaacatgtacaac
aaagaccctgcaattgtcaatggggtttattggtctgaatctctaaacaaagtttttgta
gataactttgaccgtgacccatctctcatatggcagtactttggaagtgcaaagggcttt
tttaggcagtatccggggattaaatgggaaccagatgagaatggagtcattgccttcgac
tgcaggaaccgaaaatggtacatccaggcagcaacttctccgaaagacgtggtcatttta
gttgacgtcagtggcagcatgaaaggactccgtctgactatcgcgaagcaaacagtctca
tccattttggatacacttggggatgatgacttcttcaacataattgcttataatgaggag
cttcactatgtggaaccttgcctgaatggaactttggtgcaagccgacaggacaaacaaa
gagcacttcagggagcatctggacaaacttttcgccaaaggaattggaatgttggatata
gctctgaatgaggccttcaacattctgagtgatttcaaccacacgggacaaggaagtatc
tgcagtcaggccatcatgctcataactgatggggcggtggacacctatgatacaatcttt
gcaaaatacaattggccagatcgaaaggttcgcatcttcacatacctcattggacgagag
gctgcgtttgcagacaatctaaagtggatggcctgtgccaacaaaggattttttacccag
atctccaccttggctgatgtgcaggagaatgtcatggaataccttcacgtgcttagccgg
cccaaagtcatcgaccaggagcatgatgtggtgtggaccgaagcttacattgacagcact
ctccctcaggcacaaaagctgactgatgatcagggccccgtcctgatgaccactgtagcc
atgcctgtgtttagtaagcagaacgaaaccagatcgaagggcattcttctgggagtggtt
ggcacagatgtcccagtgaaagaacttctgaagaccatccccaaatacaagttagggatt
cacggttatgcctttgcaatcacaaataatggatatatcctgacgcatccggaactcagg
ctgctgtacgaagaaggaaaaaagcgaaggaaacctaactatagtagcgttgacctctct
gaggtggagtgggaagaccgagatgacgtgttgagaaatgctatggtgaatcgaaagacg
gggaagttttccatggaggtgaagaagacagtggacaaagggaaacgggttttggtgatg
acaaatgactactattatacagacatcaagggtactcctttcagtttaggtgtggcgctt
tccagaggtcatgggaaatatttcttccgagggaatgtaaccatcgaagaaggcctgcat
gacttagaacatcccgatgtgtccttggcagatgaatggtcctactgcaacactgaccta
caccctgagcaccgccatctgtctcagttagaagcgattaagctctacctaaaaggcaaa
gaacctctgctccagtgtgataaagaattgatccaagaagtcctttttgacgcggtggtg
agtgcccccattgaagcgtattggaccagcctggccctcaacaaatctgaaaattctgac
aagggcgtggaggttgccttcctcggcactcgcacgggcctctccagaatcaacctgttt
gtcggggctgagcagctcaccaatcaggacttcctgaaagctggcgacaaggagaacatt
tttaacgcagaccatttccctctctggtaccgaagagccgctgagcagattccagggagc
ttcgtctactcgatcccattcagcactggaccagtcaataaaagcaatgtggtgacagca
agtacatccatccagctcctggatgaacggaaatctcctgtggtggcagctgtaggcatt
cagatgaaacttgaatttttccaaaggaagttctggactgccagcagacagtgtgcttcc
ctggatggcaaatgctccatcagctgtgatgatgagactgtgaattgttacctcatagac
aataatggatttattttggtgtctgaagactacacacagactggagacttttttggtgag
atcgagggagctgtgatgaacaaattgctaacaatgggctcctttaaaagaattaccctt
tatgactaccaagccatgtgtagagccaacaaggaaagcagcgatggcgcccatggcctc
ctggatccttataatgccttcctctctgcagtaaaatggatcatgacagaacttgtcttg
ttcctggtggaatttaacctctgcagttggtggcactccgatatgacagctaaagcccag
aaattgaaacagaccctggagccttgtgatactgaatatccagcattcgtctctgagcgc
accatcaaggagactacagggaatattgcttgtgaagactgctccaagtcctttgtcatc
cagcaaatcccaagcagcaacctgttcatggtggtggtggacagcagctgcctctgtgaa
tctgtggcccccatcaccatggcacccattgaaatcaggtataatgaatcccttaagtgt
gaacgtctaaaggcccagaagatcagaaggcgcccagaatcttgtcatggcttccatcct
gaggagaatgcaagggagtgtgggggtgcgccgagtctccaagcccagacagtcctcctt
ctgctccctctgcttttgatgctcttctcaaggtga

KEGG   Homo sapiens (human): 59283Help
Entry
59283             CDS       T01001                                 

Gene name
CACNG8
Definition
(RefSeq) calcium voltage-gated channel auxiliary subunit gamma 8
  KO
K04873  
voltage-dependent calcium channel gamma-8
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Oxytocin signaling pathway
Hypertrophic cardiomyopathy (HCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Dilated cardiomyopathy (DCM)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    59283 (CACNG8)
 Organismal Systems
  Endocrine system
   04921 Oxytocin signaling pathway
    59283 (CACNG8)
  Circulatory system
   04260 Cardiac muscle contraction
    59283 (CACNG8)
   04261 Adrenergic signaling in cardiomyocytes
    59283 (CACNG8)
 Human Diseases
  Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    59283 (CACNG8)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    59283 (CACNG8)
   05414 Dilated cardiomyopathy (DCM)
    59283 (CACNG8)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN gamma
   59283 (CACNG8)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
Q8WXS5(Tdark)
UniProt: 
Position
19q13.42
AA seq 425 aa AA seqDB search
MESLKRWNEERGLWCEKGVQVLLTTVGAFAAFGLMTIAISTDYWLYTRALICNTTNLTAG
GDDGTPHRGGGGASEKKDPGGLTHSGLWRICCLEGLKRGVCVKINHFPEDTDYDHDSAEY
LLRVVRASSIFPILSAILLLLGGVCVAASRVYKSKRNIILGAGILFVAAGLSNIIGVIVY
ISANAGEPGPKRDEEKKNHYSYGWSFYFGGLSFILAEVIGVLAVNIYIERSREAHCQSRS
DLLKAGGGAGGSGGSGPSAILRLPSYRFRYRRRSRSSSRSSEPSPSRDASPGGPGGPGFA
STDISMYTLSRDPSKGSVAAGLAGAGGGGGGAVGAFGGAAGGAGGGGGGGGGAGAERDRG
GASGFLTLHNAFPKEAGGGVTVTVTGPPAPPAPAPPAPSAPAPGTLAKEAAASNTNTLNR
KTTPV
NT seq 1278 nt NT seq  +upstreamnt  +downstreamnt
ctggagtcgctgaagcgctggaacgaagagcggggcctctggtgcgagaagggggtgcag
gtgctgctgacgacggtgggcgccttcgccgccttcggcctcatgaccatcgccatcagc
actgactactggctctacacgcgcgccctcatctgcaacaccaccaacctcacggccggc
ggcgacgacgggaccccccaccgcgggggcggcggcgcctcggagaagaaggaccccggc
ggcctcacgcactcgggcctctggaggatctgctgcctggaagggttgaaaagaggcgtc
tgcgtgaagatcaatcatttcccggaggacacggactacgaccacgacagcgcggagtat
ctactccgagttgtccgggcctccagcatcttccccatccttagcgccatcctgctgctg
ctcgggggtgtgtgcgtggcggcctcccgcgtctacaagtccaagaggaacatcattctg
ggcgcagggatcctgttcgtggcagcaggcctgagcaacatcatcggcgtgatcgtgtac
atctccgccaacgcgggcgagccgggcccgaagcgggacgaggagaagaaaaaccactac
tcgtacggctggtccttctacttcggcgggctgtcgttcatcctggccgaggtgataggc
gtgctggccgtcaacatctacatcgagcgcagccgcgaggcgcactgccagtctcgctcg
gacctgctcaaggccggcgggggcgcgggcggcagtggcgggagcggcccctcggccatc
ctccgtctgcccagttaccgcttccgctaccgccgccgctcccgctctagctcccgctcc
agcgagccgtcgccgtcgcgggacgcgtctcccggcggccccgggggcccgggctttgcc
tccacggacatctccatgtacacgctcagccgcgacccctccaagggcagcgtggccgcg
gggctggcgggggccggcggcggcggcggcggcgccgtgggggcgttcggcggcgcggcc
gggggcgccgggggcggcggcggaggcggcggcggggcgggtgccgagcgggaccgcggg
ggggcgtccggcttcctcacgctgcacaacgccttccccaaggaggcgggcggcggcgtc
acggtcacggtcaccgggccgcccgccccgcccgcgcccgcgccacccgcgccctctgcg
cccgcccccgggaccctggccaaggaggccgccgcctccaacaccaacacgctcaacagg
aaaaccacgcctgtgtag

KEGG   Homo sapiens (human): 59284Help
Entry
59284             CDS       T01001                                 

Gene name
CACNG7
Definition
(RefSeq) calcium voltage-gated channel auxiliary subunit gamma 7
  KO
K04872  
voltage-dependent calcium channel gamma-7
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Oxytocin signaling pathway
Hypertrophic cardiomyopathy (HCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Dilated cardiomyopathy (DCM)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    59284 (CACNG7)
 Organismal Systems
  Endocrine system
   04921 Oxytocin signaling pathway
    59284 (CACNG7)
  Circulatory system
   04260 Cardiac muscle contraction
    59284 (CACNG7)
   04261 Adrenergic signaling in cardiomyocytes
    59284 (CACNG7)
 Human Diseases
  Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    59284 (CACNG7)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    59284 (CACNG7)
   05414 Dilated cardiomyopathy (DCM)
    59284 (CACNG7)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN gamma
   59284 (CACNG7)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
P62955(Tdark)
UniProt: 
Position
19q13.42
AA seq 275 aa AA seqDB search
MSHCSSRALTLLSSVFGACGLLLVGIAVSTDYWLYMEEGTVLPQNQTTEVKMALHAGLWR
VCFFAGREKGRCVASEYFLEPEINLVTENTENILKTVRTATPFPMVSLFLVFTAFVISNI
GHIRPQRTILAFVSGIFFILSGLSLVVGLVLYISSINDEVMNRPSSSEQYFHYRYGWSFA
FAASSFLLKEGAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQFLQPEAWRRG
RSPSDISSDVSIQMTQNYPPAIKYPDHLHISTSPC
NT seq 828 nt NT seq  +upstreamnt  +downstreamnt
atgagtcactgcagcagccgcgccctgaccctgctgagcagcgtgtttggtgcgtgtggc
ctgctcctggtaggcatcgcggtcagcactgactactggctgtacatggaagaaggcaca
gtgctaccgcagaaccagaccaccgaggtcaagatggccctgcacgccggcctctggcga
gtctgcttctttgcaggtcgggagaaaggtcgctgtgtggcctcagaatattttcttgaa
ccggagatcaatttggtgacggaaaacacggagaatattctgaagacagtgcgcacggcc
acccccttccccatggtcagcctcttcctcgtgttcacggccttcgtcatcagcaacatc
ggccacatccgcccgcagaggaccattctggcttttgtctctggcatcttcttcatacta
tcgggcctctccttggtggtgggcttggttctttacatctccagcatcaacgacgaggtc
atgaacaggcccagcagctctgagcagtattttcattatcgctacgggtggtcttttgcc
ttcgccgcttcctccttcctactcaaagagggggccggcgtgatgtccgtgtacctgttc
accaagcgctacgcggaggaggagatgtaccgtccacacccggccttctaccgcccgcgt
ctcagcgactgctccgactactcgggccagttcctgcagcccgaggcgtggcgccgcggc
cggagcccctccgacatctccagcgacgtgtccatccaaatgacgcagaactaccctccc
gccatcaagtacccggaccacctgcacatctccacctcgccctgctga

KEGG   Homo sapiens (human): 59285Help
Entry
59285             CDS       T01001                                 

Gene name
CACNG6
Definition
(RefSeq) calcium voltage-gated channel auxiliary subunit gamma 6
  KO
K04871  
voltage-dependent calcium channel gamma-6
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Oxytocin signaling pathway
Hypertrophic cardiomyopathy (HCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Dilated cardiomyopathy (DCM)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    59285 (CACNG6)
 Organismal Systems
  Endocrine system
   04921 Oxytocin signaling pathway
    59285 (CACNG6)
  Circulatory system
   04260 Cardiac muscle contraction
    59285 (CACNG6)
   04261 Adrenergic signaling in cardiomyocytes
    59285 (CACNG6)
 Human Diseases
  Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    59285 (CACNG6)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    59285 (CACNG6)
   05414 Dilated cardiomyopathy (DCM)
    59285 (CACNG6)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN gamma
   59285 (CACNG6)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
Q9BXT2(Tdark)
UniProt: 
Position
19q13.42
AA seq 260 aa AA seqDB search
MMWSNFFLQEENRRRGAAGRRRAHGQGRSGLTPEREGKVKLALLLAAVGATLAVLSVGTE
FWVELNTYKANGSAVCEAAHLGLWKACTKRLWQADVPVDRDTCGPAELPGEANCTYFKFF
TTGENARIFQRTTKKEVNLAAAVIAVLGLAVMALGCLCIIMVLSKGAEFLLRVGAVCFGL
SGLLLLVSLEVFRHSVRALLQRVSPEPPPAPRLTYEYSWSLGCGVGAGLILLLGAGCFLL
LTLPSWPWGSLCPKRGHRAT
NT seq 783 nt NT seq  +upstreamnt  +downstreamnt
atgatgtggtccaacttcttcctgcaagaggagaaccggcggcggggggccgcgggccgg
cggcgggcgcacgggcagggcaggtcggggctgacgcccgagcgcgaggggaaggtgaag
ctggcgctgctgctggccgccgtgggcgccacgctggcggtgctgtccgtgggcaccgag
ttctgggtggagctcaacacctacaaggccaacggcagcgccgtgtgcgaagcggcccac
ctggggctgtggaaggcgtgcaccaagcggctgtggcaggcggacgtgcccgtggacagg
gacacctgcggccccgcggagctgcccggagaagcaaactgcacctattttaaattcttc
accacgggggagaatgcacgcatctttcagagaaccacaaagaaagaggtgaatctggca
gctgcggtgatagcagtgctgggcctggcagtcatggccttggggtgcctctgtatcatc
atggtgctcagtaaaggtgcagagttcctgctccgagttggagccgtctgctttggcctc
tcaggcctgctgctcttggtgagcctggaggtgttccggcattccgtgagggccctgctg
cagagagtcagcccggagcctcccccggccccacgcctcacctacgagtactcctggtcc
ctgggctgcggcgtgggggccggcctgatcctgctgttgggggccggctgctttctgctg
ctcacactgccttcctggccctgggggtccctctgtcccaagcgggggcaccgggccacc
tag

KEGG   Homo sapiens (human): 773Help
Entry
773               CDS       T01001                                 

Gene name
CACNA1A, APCA, BI, CACNL1A4, CAV2.1, EA2, EIEE42, FHM, HPCA, MHP, MHP1, SCA6
Definition
(RefSeq) calcium voltage-gated channel subunit alpha1 A
  KO
K04344  
voltage-dependent calcium channel P/Q type alpha-1A
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
Calcium signaling pathway
Synaptic vesicle cycle
Retrograde endocannabinoid signaling
Glutamatergic synapse
Cholinergic synapse
Serotonergic synapse
GABAergic synapse
Dopaminergic synapse
Long-term depression
Taste transduction
Type II diabetes mellitus
Morphine addiction
Nicotine addiction
Disease
H00063  
Spinocerebellar ataxia (SCA)
H00606  
Early infantile epileptic encephalopathy
H00749  
Episodic ataxias
H00775  
Familial or sporadic hemiplegic migraine
H01808  
Hemiconvulsion-hemiplegia-epilepsy syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    773 (CACNA1A)
   04020 Calcium signaling pathway
    773 (CACNA1A)
 Organismal Systems
  Nervous system
   04724 Glutamatergic synapse
    773 (CACNA1A)
   04727 GABAergic synapse
    773 (CACNA1A)
   04725 Cholinergic synapse
    773 (CACNA1A)
   04728 Dopaminergic synapse
    773 (CACNA1A)
   04726 Serotonergic synapse
    773 (CACNA1A)
   04730 Long-term depression
    773 (CACNA1A)
   04723 Retrograde endocannabinoid signaling
    773 (CACNA1A)
   04721 Synaptic vesicle cycle
    773 (CACNA1A)
  Sensory system
   04742 Taste transduction
    773 (CACNA1A)
 Human Diseases
  Substance dependence
   05032 Morphine addiction
    773 (CACNA1A)
   05033 Nicotine addiction
    773 (CACNA1A)
  Endocrine and metabolic diseases
   04930 Type II diabetes mellitus
    773 (CACNA1A)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN alpha-1, CaVx.x
   773 (CACNA1A)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
O00555(Tchem)
UniProt: 
Structure
PDB: 

Jmol
Position
19p13.13
AA seq 2506 aa AA seqDB search
MARFGDEMPARYGGGGSGAAAGVVVGSGGGRGAGGSRQGGQPGAQRMYKQSMAQRARTMA
LYNPIPVRQNCLTVNRSLFLFSEDNVVRKYAKKITEWPPFEYMILATIIANCIVLALEQH
LPDDDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFAFHKGSYLRNGWNVMDFVVVLTG
ILATVGTEFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMIPLLQIGLLLFFAILIF
AIIGLEFYMGKFHTTCFEEGTDDIQGESPAPCGTEEPARTCPNGTKCQPYWEGPNNGITQ
FDNILFAVLTVFQCITMEGWTDLLYNSNDASGNTWNWLYFIPLIIIGSFFMLNLVLGVLS
GEFAKERERVENRRAFLKLRRQQQIERELNGYMEWISKAEEVILAEDETDGEQRHPFDAL
RRTTIKKSKTDLLNPEEAEDQLADIASVGSPFARASIKSAKLENSTFFHKKERRMRFYIR
RMVKTQAFYWTVLSLVALNTLCVAIVHYNQPEWLSDFLYYAEFIFLGLFMSEMFIKMYGL
GTRPYFHSSFNCFDCGVIIGSIFEVIWAVIKPGTSFGISVLRALRLLRIFKVTKYWASLR
NLVVSLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFDEGTPPTNFDTFPAAIMTV
FQILTGEDWNEVMYDGIKSQGGVQGGMVFSIYFIVLTLFGNYTLLNVFLAIAVDNLANAQ
ELTKDEQEEEEAANQKLALQKAKEVAEVSPLSAANMSIAVKEQQKNQKPAKSVWEQRTSE
MRKQNLLASREALYNEMDPDERWKAAYTRHLRPDMKTHLDRPLVVDPQENRNNNTNKSRA
AEPTVDQRLGQQRAEDFLRKQARYHDRARDPSGSAGLDARRPWAGSQEAELSREGPYGRE
SDHHAREGSLEQPGFWEGEAERGKAGDPHRRHVHRQGGSRESRSGSPRTGADGEHRRHRA
HRRPGEEGPEDKAERRARHREGSRPARGGEGEGEGPDGGERRRRHRHGAPATYEGDARRE
DKERRHRRRKENQGSGVPVSGPNLSTTRPIQQDLGRQDPPLAEDIDNMKNNKLATAESAA
PHGSLGHAGLPQSPAKMGNSTDPGPMLAIPAMATNPQNAASRRTPNNPGNPSNPGPPKTP
ENSLIVTNPSGTQTNSAKTARKPDHTTVDIPPACPPPLNHTVVQVNKNANPDPLPKKEEE
KKEEEEDDRGEDGPKPMPPYSSMFILSTTNPLRRLCHYILNLRYFEMCILMVIAMSSIAL
AAEDPVQPNAPRNNVLRYFDYVFTGVFTFEMVIKMIDLGLVLHQGAYFRDLWNILDFIVV
SGALVAFAFTGNSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVFNIL
IVYMLFMFIFAVVAVQLFKGKFFHCTDESKEFEKDCRGKYLLYEKNEVKARDREWKKYEF
HYDNVLWALLTLFTVSTGEGWPQVLKHSVDATFENQGPSPGYRMEMSIFYVVYFVVFPFF
FVNIFVALIIITFQEQGDKMMEEYSLEKNERACIDFAISAKPLTRHMPQNKQSFQYRMWQ
FVVSPPFEYTIMAMIALNTIVLMMKFYGASVAYENALRVFNIVFTSLFSLECVLKVMAFG
ILNYFRDAWNIFDFVTVLGSITDILVTEFGNNFINLSFLRLFRAARLIKLLRQGYTIRIL
LWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIGIDVEDEDSDEDEFQITEHNNFRT
FFQALMLLFRSATGEAWHNIMLSCLSGKPCDKNSGILTRECGNEFAYFYFVSFIFLCSFL
MLNLFVAVIMDNFEYLTRDSSILGPHHLDEYVRVWAEYDPAAWGRMPYLDMYQMLRHMSP
PLGLGKKCPARVAYKRLLRMDLPVADDNTVHFNSTLMALIRTALDIKIAKGGADKQQMDA
ELRKEMMAIWPNLSQKTLDLLVTPHKSTDLTVGKIYAAMMIMEYYRQSKAKKLQAMREEQ
DRTPLMFQRMEPPSPTQEGGPGQNALPSTQLDPGGALMAHESGLKESPSWVTQRAQEMFQ
KTGTWSPEQGPPTDMPNSQPNSQSVEMREMGRDGYSDSEHYLPMEGQGRAASMPRLPAEN
QRRRGRPRGNNLSTISDTSPMKRSASVLGPKARRLDDYSLERVPPEENQRHHQRRRDRSH
RASERSLGRYTDVDTGLGTDLSMTTQSGDLPSKERDQERGRPKDRKHRQHHHHHHHHHHP
PPPDKDRYAQERPDHGRARARDQRWSRSPSEGREHMAHRQGSSSVSGSPAPSTSGTSTPR
RGRRQLPQTPSTPRPHVSYSPVIRKAGGSGPPQQQQQQQQQQQQQAVARPGRAATSGPRR
YPGPTAEPLAGDRPPTGGHSSGRSPRMERRVPGPARSESPRACRHGGARWPASGPHVSEG
PPGPRHHGYYRGSDYDEADGPGSGGGEEAMAGAYDAPPPVRHASSGATGRSPRTPRASGP
ACASPSRHGRRLPNGYYPAHGLARPRGPGSRKGLHEPYSESDDDWC
NT seq 7521 nt NT seq  +upstreamnt  +downstreamnt
atggcccgcttcggagacgagatgccggcccgctacgggggaggaggctccggggcagcc
gccggggtggtcgtgggcagcggaggcgggcgaggagccgggggcagccggcagggcggg
cagcccggggcgcaaaggatgtacaagcagtcaatggcgcagagagcgcggaccatggca
ctctacaaccccatccccgtccgacagaactgcctcacggttaaccggtctctcttcctc
ttcagcgaagacaacgtggtgagaaaatacgccaaaaagatcaccgaatggcctcccttt
gaatatatgattttagccaccatcatagcgaattgcatcgtcctcgcactggagcagcat
ctgcctgatgatgacaagaccccgatgtctgaacggctggatgacacagaaccatacttc
attggaattttttgtttcgaggctggaattaaaatcattgcccttgggtttgccttccac
aaaggctcctacttgaggaatggctggaatgtcatggactttgtggtggtgctaacgggc
atcttggcgacagttgggacggagtttgacctacggacgctgagggcagttcgagtgctg
cggccgctcaagctggtgtctggaatcccaagtttacaagtcgtcctgaagtcgatcatg
aaggcgatgatccctttgctgcagatcggcctcctcctattttttgcaatccttattttt
gcaatcatagggttagaattttatatgggaaaatttcataccacctgctttgaagagggg
acagatgacattcagggtgagtctccggctccatgtgggacagaagagcccgcccgcacc
tgccccaatgggaccaaatgtcagccctactgggaagggcccaacaacgggatcactcag
ttcgacaacatcctgtttgcagtgctgactgttttccagtgcataaccatggaagggtgg
actgatctcctctacaatagcaacgatgcctcagggaacacttggaactggttgtacttc
atccccctcatcatcatcggctccttttttatgctgaaccttgtgctgggtgtgctgtca
ggggagtttgccaaagaaagggaacgggtggagaaccggcgggcttttctgaagctgagg
cggcaacaacagattgaacgtgagctcaatgggtacatggagtggatctcaaaagcagaa
gaggtgatcctcgccgaggatgaaactgacggggagcagaggcatccctttgatgctctg
cggagaaccaccataaagaaaagcaagacagatttgctcaaccccgaagaggctgaggat
cagctggctgatatagcctctgtgggttctcccttcgcccgagccagcattaaaagtgcc
aagctggagaactcgaccttttttcacaaaaaggagaggaggatgcgtttctacatccgc
cgcatggtcaaaactcaggccttctactggactgtactcagtttggtagctctcaacacg
ctgtgtgttgctattgttcactacaaccagcccgagtggctctccgacttcctttactat
gcagaattcattttcttaggactctttatgtccgaaatgtttataaaaatgtacgggctt
gggacgcggccttacttccactcttccttcaactgctttgactgtggggttatcattggg
agcatcttcgaggtcatctgggctgtcataaaacctggcacatcctttggaatcagcgtg
ttacgagccctcaggttattgcgtattttcaaagtcacaaagtactgggcatctctcaga
aacctggtcgtctctctcctcaactccatgaagtccatcatcagcctgttgtttctcctt
ttcctgttcattgtcgtcttcgcccttttgggaatgcaactcttcggcggccagtttaat
ttcgatgaagggactcctcccaccaacttcgatacttttccagcagcaataatgacggtg
tttcagatcctgacgggcgaagactggaacgaggtcatgtacgacgggatcaagtctcag
gggggcgtgcagggcggcatggtgttctccatctatttcattgtactgacgctctttggg
aactacaccctcctgaatgtgttcttggccatcgctgtggacaatctggccaacgcccag
gagctcaccaaggacgagcaagaggaagaagaagcagcgaaccagaaacttgccctacag
aaagccaaggaggtggcagaagtgagtcctctgtccgcggccaacatgtctatagctgtg
aaagagcaacagaagaatcaaaagccagccaagtccgtgtgggagcagcggaccagtgag
atgcgaaagcagaacttgctggccagccgggaggccctgtataacgaaatggacccggac
gagcgctggaaggctgcctacacgcggcacctgcggccagacatgaagacgcacttggac
cggccgctggtggtggacccgcaggagaaccgcaacaacaacaccaacaagagccgggcg
gccgagcccaccgtggaccagcgcctcggccagcagcgcgccgaggacttcctcaggaaa
caggcccgctaccacgatcgggcccgggaccccagcggctcggcgggcctggacgcacgg
aggccctgggcgggaagccaggaggccgagctgagccgggagggaccctacggccgcgag
tcggaccaccacgcccgggagggcagcctggagcaacccgggttctgggagggcgaggcc
gagcgaggcaaggccggggacccccaccggaggcacgtgcaccggcaggggggcagcagg
gagagccgcagcgggtccccgcgcacgggcgcggacggggagcatcgacgtcatcgcgcg
caccgcaggcccggggaggagggtccggaggacaaggcggagcggagggcgcggcaccgc
gagggcagccggccggcccggggcggcgagggcgagggcgagggccccgacgggggcgag
cgcaggagaaggcaccggcatggcgctccagccacgtacgagggggacgcgcggagggag
gacaaggagcggaggcatcggaggaggaaagagaaccagggctccggggtccctgtgtcg
ggccccaacctgtcaaccacccggccaatccagcaggacctgggccgccaagacccaccc
ctggcagaggatattgacaacatgaagaacaacaagctggccaccgcggagtcggccgct
ccccacggcagccttggccacgccggcctgccccagagcccagccaagatgggaaacagc
accgaccccggccccatgctggccatccctgccatggccaccaacccccagaacgccgcc
agccgccggacgcccaacaacccggggaacccatccaatcccggcccccccaagaccccc
gagaatagccttatcgtcaccaaccccagcggcacccagaccaattcagctaagactgcc
aggaaacccgaccacaccacagtggacatccccccagcctgcccaccccccctcaaccac
accgtcgtacaagtgaacaaaaacgccaacccagacccactgccaaaaaaagaggaagag
aagaaggaggaggaggaagacgaccgtggggaagacggccctaagccaatgcctccctat
agctccatgttcatcctgtccacgaccaacccccttcgccgcctgtgccattacatcctg
aacctgcgctactttgagatgtgcatcctcatggtcattgccatgagcagcatcgccctg
gccgccgaggaccctgtgcagcccaacgcacctcggaacaacgtgctgcgatactttgac
tacgtttttacaggcgtctttacctttgagatggtgatcaagatgattgacctggggctc
gtcctgcatcagggtgcctacttccgtgacctctggaatattctcgacttcatagtggtc
agtggggccctggtagcctttgccttcactggcaatagcaaaggaaaagacatcaacacg
attaaatccctccgagtcctccgggtgctacgacctcttaaaaccatcaagcggctgcca
aagctcaaggctgtgtttgactgtgtggtgaactcacttaaaaacgtcttcaacatcctc
atcgtctacatgctattcatgttcatcttcgccgtggtggctgtgcagctcttcaagggg
aaattcttccactgcactgacgagtccaaagagtttgagaaagattgtcgaggcaaatac
ctcctctacgagaagaatgaggtgaaggcgcgagaccgggagtggaagaagtatgaattc
cattacgacaatgtgctgtgggctctgctgaccctcttcaccgtgtccacgggagaaggc
tggccacaggtcctcaagcattcggtggacgccacctttgagaaccagggccccagcccc
gggtaccgcatggagatgtccattttctacgtcgtctactttgtggtgttccccttcttc
tttgtcaatatctttgtggccttgatcatcatcaccttccaggagcaaggggacaagatg
atggaggaatacagcctggagaaaaatgagagggcctgcattgatttcgccatcagcgcc
aagccgctgacccgacacatgccgcagaacaagcagagcttccagtaccgcatgtggcag
ttcgtggtgtctccgcctttcgagtacacgatcatggccatgatcgccctcaacaccatc
gtgcttatgatgaagttctatggggcttctgttgcttatgaaaatgccctgcgggtgttc
aacatcgtcttcacctccctcttctctctggaatgtgtgctgaaagtcatggcttttggg
attctgaattatttccgcgatgcctggaacatcttcgactttgtgactgttctgggcagc
atcaccgatatcctcgtgactgagtttgggaataacttcatcaacctgagctttctccgc
ctcttccgagctgcccggctcatcaaacttctccgtcagggttacaccatccgcattctt
ctctggacctttgtgcagtccttcaaggccctgccttatgtctgtctgctgatcgccatg
ctcttcttcatctatgccatcattgggatgcaggtgtttggtaacattggcatcgacgtg
gaggacgaggacagtgatgaagatgagttccaaatcactgagcacaataacttccggacc
ttcttccaggccctcatgcttctcttccggagtgccaccggggaagcttggcacaacatc
atgctttcctgcctcagcgggaaaccgtgtgataagaactctggcatcctgactcgagag
tgtggcaatgaatttgcttatttttactttgtttccttcatcttcctctgctcgtttctg
atgctgaatctctttgtcgccgtcatcatggacaactttgagtacctcacccgagactcc
tccatcctgggcccccaccacctggatgagtacgtgcgtgtctgggccgagtatgacccc
gcagcttggggccgcatgccttacctggacatgtatcagatgctgagacacatgtctccg
cccctgggtctggggaagaagtgtccggccagagtggcttacaagcggcttctgcggatg
gacctgcccgtcgcagatgacaacaccgtccacttcaattccaccctcatggctctgatc
cgcacagccctggacatcaagattgccaagggaggagccgacaaacagcagatggacgct
gagctgcggaaggagatgatggcgatttggcccaatctgtcccagaagacgctagacctg
ctggtcacacctcacaagtccacggacctcaccgtggggaagatctacgcagccatgatg
atcatggagtactaccggcagagcaaggccaagaagctgcaggccatgcgcgaggagcag
gaccggacacccctcatgttccagcgcatggagcccccgtccccaacgcaggaaggggga
cctggccagaacgccctcccctccacccagctggacccaggaggagccctgatggctcac
gaaagcggcctcaaggagagcccgtcctgggtgacccagcgtgcccaggagatgttccag
aagacgggcacatggagtccggaacaaggcccccctaccgacatgcccaacagccagcct
aactctcagtccgtggagatgcgagagatgggcagagatggctactccgacagcgagcac
tacctccccatggaaggccagggccgggctgcctccatgccccgcctccctgcagagaac
cagaggagaaggggccggccacgtgggaataacctcagtaccatctcagacaccagcccc
atgaagcgttcagcctccgtgctgggccccaaggcccgacgcctggacgattactcgctg
gagcgggtcccgcccgaggagaaccagcggcaccaccagcggcgccgcgaccgcagccac
cgcgcctctgagcgctccctgggccgctacaccgatgtggacacaggcttggggacagac
ctgagcatgaccacccaatccggggacctgccgtcgaaggagcgggaccaggagcggggc
cggcccaaggatcggaagcatcgacagcaccaccaccaccaccaccaccaccaccatccc
ccgccccccgacaaggaccgctatgcccaggaacggccggaccacggccgggcacgggct
cgggaccagcgctggtcccgctcgcccagcgagggccgagagcacatggcgcaccggcag
ggcagtagttccgtaagtggaagcccagccccctcaacatctggtaccagcactccgcgg
cggggccgccgccagctcccccagaccccctccaccccccggccacacgtgtcctattcc
cctgtgatccgtaaggccggcggctcggggcccccgcagcagcagcagcagcagcagcag
cagcagcagcagcaggcggtggccaggccgggccgggcggccaccagcggccctcggagg
tacccaggccccacggccgagcctctggccggagatcggccgcccacggggggccacagc
agcggccgctcgcccaggatggagaggcgggtcccaggcccggcccggagcgagtccccc
agggcctgtcgacacggcggggcccggtggccggcatctggcccgcacgtgtccgagggg
cccccgggtccccggcaccatggctactaccggggctccgactacgacgaggccgatggc
ccgggcagcgggggcggcgaggaggccatggccggggcctacgacgcgccaccccccgta
cgacacgcgtcctcgggcgccaccgggcgctcgcccaggactccccgggcctcgggcccg
gcctgcgcctcgccttctcggcacggccggcgactccccaacggctactacccggcgcac
ggactggccaggccccgcgggccgggctccaggaagggcctgcacgaaccctacagcgag
agtgacgatgattggtgctaa

KEGG   Homo sapiens (human): 774Help
Entry
774               CDS       T01001                                 

Gene name
CACNA1B, BIII, CACNL1A5, CACNN, Cav2.2, DYT23
Definition
(RefSeq) calcium voltage-gated channel subunit alpha1 B
  KO
K04849  
voltage-dependent calcium channel N type alpha-1B
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
Calcium signaling pathway
Synaptic vesicle cycle
Retrograde endocannabinoid signaling
Cholinergic synapse
Serotonergic synapse
GABAergic synapse
Dopaminergic synapse
Type II diabetes mellitus
Morphine addiction
Nicotine addiction
Disease
H00831  
Primary dystonia
Drug target
Cilnidipine: 
Ziconotide (DG00832): 
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    774 (CACNA1B)
   04020 Calcium signaling pathway
    774 (CACNA1B)
 Organismal Systems
  Nervous system
   04727 GABAergic synapse
    774 (CACNA1B)
   04725 Cholinergic synapse
    774 (CACNA1B)
   04728 Dopaminergic synapse
    774 (CACNA1B)
   04726 Serotonergic synapse
    774 (CACNA1B)
   04723 Retrograde endocannabinoid signaling
    774 (CACNA1B)
   04721 Synaptic vesicle cycle
    774 (CACNA1B)
 Human Diseases
  Substance dependence
   05032 Morphine addiction
    774 (CACNA1B)
   05033 Nicotine addiction
    774 (CACNA1B)
  Endocrine and metabolic diseases
   04930 Type II diabetes mellitus
    774 (CACNA1B)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN alpha-1, CaVx.x
   774 (CACNA1B)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
Q00975(Tclin)
UniProt: 
Structure
PDB: 

Jmol
Position
9q34.3
AA seq 2339 aa AA seqDB search
MVRFGDELGGRYGGPGGGERARGGGAGGAGGPGPGGLQPGQRVLYKQSIAQRARTMALYN
PIPVKQNCFTVNRSLFVFSEDNVVRKYAKRITEWPPFEYMILATIIANCIVLALEQHLPD
GDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFVFHKGSYLRNGWNVMDFVVVLTGILA
TAGTDFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMVPLLQIGLLLFFAILMFAII
GLEFYMGKFHKACFPNSTDAEPVGDFPCGKEAPARLCEGDTECREYWPGPNFGITNFDNI
LFAILTVFQCITMEGWTDILYNTNDAAGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFA
KERERVENRRAFLKLRRQQQIERELNGYLEWIFKAEEVMLAEEDRNAEEKSPLDVLKRAA
TKKSRNDLIHAEEGEDRFADLCAVGSPFARASLKSGKTESSSYFRRKEKMFRFFIRRMVK
AQSFYWVVLCVVALNTLCVAMVHYNQPRRLTTTLYFAEFVFLGLFLTEMSLKMYGLGPRS
YFRSSFNCFDFGVIVGSVFEVVWAAIKPGSSFGISVLRALRLLRIFKVTKYWSSLRNLVV
SLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFQDETPTTNFDTFPAAILTVFQIL
TGEDWNAVMYHGIESQGGVSKGMFSSFYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTK
DEEEMEEAANQKLALQKAKEVAEVSPMSAANISIAARQQNSAKARSVWEQRASQLRLQNL
RASCEALYSEMDPEERLRFATTRHLRPDMKTHLDRPLVVELGRDGARGPVGGKARPEAAE
APEGVDPPRRHHRHRDKDKTPAAGDQDRAEAPKAESGEPGAREERPRPHRSHSKEAAGPP
EARSERGRGPGPEGGRRHHRRGSPEEAAEREPRRHRAHRHQDPSKECAGAKGERRARHRG
GPRAGPREAESGEEPARRHRARHKAQPAHEAVEKETTEKEATEKEAEIVEADKEKELRNH
QPREPHCDLETSGTVTVGPMHTLPSTCLQKVEEQPEDADNQRNVTRMGSQPPDPNTIVHI
PVMLTGPLGEATVVPSGNVDLESQAEGKKEVEADDVMRSGPRPIVPYSSMFCLSPTNLLR
RFCHYIVTMRYFEVVILVVIALSSIALAAEDPVRTDSPRNNALKYLDYIFTGVFTFEMVI
KMIDLGLLLHPGAYFRDLWNILDFIVVSGALVAFAFSGSKGKDINTIKSLRVLRVLRPLK
TIKRLPKLKAVFDCVVNSLKNVLNILIVYMLFMFIFAVIAVQLFKGKFFYCTDESKELER
DCRGQYLDYEKEEVEAQPRQWKKYDFHYDNVLWALLTLFTVSTGEGWPMVLKHSVDATYE
EQGPSPGYRMELSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKVMSECSLEKNERACI
DFAISAKPLTRYMPQNRQSFQYKTWTFVVSPPFEYFIMAMIALNTVVLMMKFYDAPYEYE
LMLKCLNIVFTSMFSMECVLKIIAFGVLNYFRDAWNVFDFVTVLGSITDILVTEIAETNN
FINLSFLRLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQV
FGNIALDDDTSINRHNNFRTFLQALMLLFRSATGEAWHEIMLSCLSNQACDEQANATECG
SDFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFIRVWAEYDPAA
CGRISYNDMFEMLKHMSPPLGLGKKCPARVAYKRLVRMNMPISNEDMTVHFTSTLMALIR
TALEIKLAPAGTKQHQCDAELRKEISVVWANLPQKTLDLLVPPHKPDEMTVGKVYAALMI
FDFYKQNKTTRDQMQQAPGGLSQMGPVSLFHPLKATLEQTQPAVLRGARVFLRQKSSTSL
SNGGAIQNQESGIKESVSWGTQRTQDAPHEARPPLERGHSTEIPVGRSGALAVDVQMQSI
TRRGPDGEPQPGLESQGRAASMPRLAAETQPVTDASPMKRSISTLAQRPRGTHLCSTTPD
RPPPSQASSHHHHHRCHRRRDRKQRSLEKGPSLSADMDGAPSSAVGPGLPPGEGPTGCRR
ERERRQERGRSQERRQPSSSSSEKQRFYSCDRFGGREPPKPKPSLSSHPTSPTAGQEPGP
HPQGSGSVNGSPLLSTSGASTPGRGGRRQLPQTPLTPRPSITYKTANSSPIHFAGAQTSL
PAFSPGRLSRGLSEHNALLQRDPLSQPLAPGSRIGSDPYLGQRLDSEASVHALPEDTLTF
EEAVATNSGRSSRTSYVSSLTSQSHPLRRVPNGYHCTLGLSSGGRARHSYHHPDQDHWC
NT seq 7020 nt NT seq  +upstreamnt  +downstreamnt
atggtccgcttcggggacgagctgggcggccgctatgggggccccggcggcggagagcgg
gcccggggcggcggggccggcggggcggggggcccgggtcccggggggctgcagcccggc
cagcgggtcctctacaagcaatcgatcgcgcagcgcgcgcggaccatggcgctgtacaac
cccatcccggtcaagcagaactgcttcaccgtcaaccgctcgctcttcgtcttcagcgag
gacaacgtcgtccgcaaatacgcgaagcgcatcaccgagtggcctccattcgagtatatg
atcctggccaccatcatcgccaactgcatcgtgctggccctggagcagcacctccctgat
ggggacaaaacgcccatgtccgagcggctggacgacacggagccctatttcatcgggatc
ttttgcttcgaggcagggatcaaaatcatcgctctgggctttgtcttccacaagggctct
tacctgcggaacggctggaacgtcatggacttcgtggtcgtcctcacagggatccttgcc
acggctggaactgacttcgacctgcgaacactgagggctgtgcgtgtgctgaggcccctg
aagctggtgtctgggattccaagtttgcaggtggtgctcaagtccatcatgaaggccatg
gttccactcctgcagattgggctgcttctcttctttgccatcctcatgtttgccatcatt
ggcctggagttctacatgggcaagttccacaaggcctgtttccccaacagcacagatgcg
gagcccgtgggtgacttcccctgtggcaaggaggccccagcccggctgtgcgagggcgac
actgagtgccgggagtactggccaggacccaactttggcatcaccaactttgacaatatc
ctgtttgccatcttgacggtgttccagtgcatcaccatggagggctggactgacatcctc
tataatacaaacgatgcggccggcaacacctggaactggctctacttcatccctctcatc
atcatcggctccttcttcatgctcaacctggtgctgggcgtgctctcgggggagtttgcc
aaggagcgagagagggtggagaaccgccgcgccttcctgaagctgcgccggcagcagcag
atcgagcgagagctcaacgggtacctggagtggatcttcaaggcggaggaagtcatgctg
gccgaggaggacaggaatgcagaggagaagtcccctttggacgtgctgaagagagcggcc
accaagaagagcagaaatgacctgatccacgcagaggagggagaggaccggtttgcagat
ctctgtgctgttggatcccccttcgcccgcgccagcctcaagagcgggaagacagagagc
tcgtcatacttccggaggaaggagaagatgttccggttttttatccggcgcatggtgaag
gctcagagcttctactgggtggtgctgtgcgtggtggccctgaacacactgtgtgtggcc
atggtgcattacaaccagccgcggcggcttaccacgaccctgtattttgcagagtttgtt
ttcctgggtctcttcctcacagagatgtccctgaagatgtatggcctggggcccagaagc
tacttccggtcctccttcaactgcttcgactttggggtcatcgtggggagcgtctttgaa
gtggtctgggcggccatcaagccgggaagctcctttgggatcagtgtgctgcgggccctc
cgcctgctgaggatcttcaaagtcacgaagtactggagctccctgcggaacctggtggtg
tccctgctgaactccatgaagtccatcatcagcctgctcttcttgctcttcctgttcatt
gtggtcttcgccctgctggggatgcagctgtttgggggacagttcaacttccaggatgag
actcccacaaccaacttcgacaccttccctgccgccatcctcactgtcttccagatcctg
acgggagaggactggaatgcagtgatgtatcacgggatcgaatcgcaaggcggcgtcagc
aaaggcatgttctcgtccttttacttcattgtcctgacactgttcggaaactacactctg
ctgaatgtctttctggccatcgctgtggacaacctggccaacgcccaagagctgaccaag
gatgaagaggagatggaagaagcagccaatcagaagcttgctctgcaaaaggccaaagaa
gtggctgaagtcagccccatgtctgccgcgaacatctccatcgccgccaggcagcagaac
tcggccaaggcgcgctcggtgtgggagcagcgggccagccagctacggctgcagaacctg
cgggccagctgcgaggcgctgtacagcgagatggaccccgaggagcggctgcgcttcgcc
actacgcgccacctgcggcccgacatgaagacgcacctggaccggccgctggtggtggag
ctgggccgcgacggcgcgcgggggcccgtgggaggcaaagcccgacctgaggctgcggag
gcccccgagggcgtcgaccctccgcgcaggcaccaccggcaccgcgacaaggacaagacc
cccgcggcgggggaccaggaccgagcagaggccccgaaggcggagagcggggagcccggt
gcccgggaggagcggccgcggccgcaccgcagccacagcaaggaggccgcggggcccccg
gaggcgcggagcgagcgcggccgaggcccaggccccgagggcggccggcggcaccaccgg
cgcggctccccggaggaggcggccgagcgggagccccgacgccaccgcgcgcaccggcac
caggatccgagcaaggagtgcgccggcgccaagggcgagcggcgcgcgcggcaccgcggc
ggcccccgagcggggccccgggaggcggagagcggggaggagccggcgcggcggcaccgg
gcccggcacaaggcgcagcctgctcacgaggctgtggagaaggagaccacggagaaggag
gccacggagaaggaggctgagatagtggaagccgacaaggaaaaggagctccggaaccac
cagccccgggagccacactgtgacctggagaccagtgggactgtgactgtgggtcccatg
cacacactgcccagcacctgtctccagaaggtggaggaacagccagaggatgcagacaat
cagcggaacgtcactcgcatgggcagtcagcccccagacccgaacactattgtacatatc
ccagtgatgctgacgggccctcttggggaagccacggtcgttcccagtggtaacgtggac
ctggaaagccaagcagaggggaagaaggaggtggaagcggatgacgtgatgaggagcggc
ccccggcctatcgtcccatacagctccatgttctgtttaagccccaccaacctgctccgc
cgcttctgccactacatcgtgaccatgaggtacttcgaggtggtcattctcgtggtcatc
gccttgagcagcatcgccctggctgctgaggacccagtgcgcacagactcgcccaggaac
aacgctctgaaatacctggattacattttcactggtgtctttacctttgagatggtgata
aagatgatcgacttgggactgctgcttcaccctggagcctatttccgggacttgtggaac
attctggacttcattgtggtcagtggcgccctggtggcgtttgctttctcaggatccaaa
gggaaagacatcaataccatcaagtctctgagagtccttcgtgtcctgcggcccctcaag
accatcaaacggctgcccaagctcaaggctgtgtttgactgtgtggtgaactccctgaag
aatgtcctcaacatcttgattgtctacatgctcttcatgttcatatttgccgtcattgcg
gtgcagctcttcaaagggaagtttttctactgcacagatgaatccaaggagctggagagg
gactgcaggggtcagtatttggattatgagaaggaggaagtggaagctcagcccaggcag
tggaagaaatacgactttcactacgacaatgtgctctgggctctgctgacgctgttcaca
gtgtccacgggagaaggctggcccatggtgctgaaacactccgtggatgccacctatgag
gagcagggtccaagccctgggtaccgcatggagctgtccatcttctacgtggtctacttt
gtggtctttcccttcttcttcgtcaacatctttgtggctttgatcatcatcaccttccag
gagcagggggacaaggtgatgtctgaatgcagcctggagaagaacgagagggcttgcatt
gacttcgccatcagcgccaaacccctgacacggtacatgccccaaaaccggcagtcgttc
cagtataagacgtggacatttgtggtctccccgccctttgaatacttcatcatggccatg
atagccctcaacactgtggtgctgatgatgaagttctatgatgcaccctatgagtacgag
ctgatgctgaaatgcctgaacatcgtgttcacatccatgttctccatggaatgcgtgctg
aagatcatcgcctttggggtgctgaactatttcagagatgcctggaatgtctttgacttt
gtcactgtgttgggaagtattactgatattttagtaacagagattgcggaaacgaacaat
ttcatcaacctcagcttcctccgcctctttcgagctgcgcggctgatcaagctgctccgc
cagggctacaccatccgcatcctgctgtggacctttgtccagtccttcaaggccctgccc
tacgtgtgtctgctcattgccatgctgttcttcatctacgccatcatcggcatgcaggtg
tttgggaatattgccctggatgatgacaccagcatcaaccgccacaacaacttccggacg
tttttgcaagccctgatgctgctgttcaggagcgccacgggggaggcctggcacgagatc
atgctgtcctgcctgagcaaccaggcctgtgatgagcaggccaatgccaccgagtgtgga
agtgactttgcctacttctacttcgtctccttcatcttcctgtgctcctttctgatgttg
aacctctttgtggctgtgatcatggacaattttgagtacctcacgcgggactcttccatc
ctaggtcctcaccacttggatgagttcatccgggtctgggctgaatacgacccggctgcg
tgtgggcgcatcagttacaatgacatgtttgagatgctgaaacacatgtccccgcctctg
gggctggggaagaaatgccctgctcgagttgcttacaagcgcctggttcgcatgaacatg
cccatctccaacgaggacatgactgttcacttcacgtccacgctgatggccctcatccgg
acggcactggagatcaagctggccccagctgggacaaagcagcatcagtgtgacgcggag
ttgaggaaggagatttccgttgtgtgggccaatctgccccagaagactttggacttgctg
gtaccaccccataagcctgatgagatgacagtggggaaggtttatgcagctctgatgata
ttcgacttctacaagcagaacaaaaccaccagagaccagatgcagcaggctcctggaggc
ctctcccagatgggtcctgtgtccctgttccaccctctgaaggccaccctggagcagaca
cagccggctgtgctccgaggagcccgggttttccttcgacagaagagttccacctccctc
agcaatggcggggccatacaaaaccaagagagtggcatcaaagagtctgtctcctggggc
actcaaaggacccaggatgcaccccatgaggccaggccacccctggagcgtggccactcc
acagagatccctgtggggcggtcaggagcactggctgtggacgttcagatgcagagcata
acccggaggggccctgatggggagccccagcctgggctggagagccagggtcgagcggcc
tccatgccccgccttgcggccgagactcagcccgtcacagatgccagccccatgaagcgc
tccatctccacgctggcccagcggccccgtgggactcatctttgcagcaccaccccggac
cgcccaccccctagccaggcgtcgtcgcaccaccaccaccaccgctgccaccgccgcagg
gacaggaagcagaggtccctggagaaggggcccagcctgtctgccgatatggatggcgca
ccaagcagtgctgtggggccggggctgcccccgggagaggggcctacaggctgccggcgg
gaacgagagcgccggcaggagcggggccggtcccaggagcggaggcagccctcatcctcc
tcctcggagaagcagcgcttctactcctgcgaccgctttgggggccgtgagcccccgaag
cccaagccctccctcagcagccacccaacgtcgccaacagctggccaggagccgggaccc
cacccacagggcagtggttccgtgaatgggagccccttgctgtcaacatctggtgctagc
acccccggccgcggtgggcggaggcagctcccccagacgcccctgactccccgccccagc
atcacctacaagacggccaactcctcacccatccacttcgccggggctcagaccagcctc
cctgccttctccccaggccggctcagccgtgggctttccgaacacaacgccctgctgcag
agagaccccctcagccagcccctggcccctggctctcgaattggctctgacccttacctg
gggcagcgtctggacagtgaggcctctgtccacgccctgcctgaggacactctcactttc
gaggaggctgtggccaccaactcgggccgctcctccaggacttcctacgtgtcctccctg
acctcccagtctcaccctctccgccgcgtgcccaacggttaccactgcaccctgggactc
agctcgggtggccgagcacggcacagctaccaccaccctgaccaagaccactggtgctag

KEGG   Homo sapiens (human): 775Help
Entry
775               CDS       T01001                                 

Gene name
CACNA1C, CACH2, CACN2, CACNL1A1, CCHL1A1, CaV1.2, LQT8, TS
Definition
(RefSeq) calcium voltage-gated channel subunit alpha1 C
  KO
K04850  
voltage-dependent calcium channel L type alpha-1C
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
Calcium signaling pathway
cGMP-PKG signaling pathway
cAMP signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Vascular smooth muscle contraction
Circadian entrainment
Long-term potentiation
Retrograde endocannabinoid signaling
Glutamatergic synapse
Cholinergic synapse
Serotonergic synapse
GABAergic synapse
Dopaminergic synapse
Taste transduction
Insulin secretion
GnRH signaling pathway
Oxytocin signaling pathway
Renin secretion
Aldosterone synthesis and secretion
Type II diabetes mellitus
Alzheimer's disease
Amphetamine addiction
Hypertrophic cardiomyopathy (HCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Dilated cardiomyopathy (DCM)
Disease
H00720  
Long QT syndrome
H00728  
Brugada syndrome (BRS)
Drug target
Amlodipine (DG00322): 
Aranidipine: 
Azelnidipine: 
Barnidipine (DG00325): 
Benidipine (DG00327): 
Bepridil (DG00333): 
Bevantolol: 
Cilnidipine: 
Clevidipine: 
Diltiazem: 
Dronedarone (DG00207): 
Efonidipine (DG01382): 
Felodipine: 
Fendiline (DG00332): 
Fostedil: 
Gallopamil (DG00330): 
Isradipine: 
Lacidipine: 
Lercanidipine (DG00326): 
Manidipine (DG00324): 
Nicardipine (DG00323): 
Nifedipine: 
Nilvadipine: 
Nimodipine: 
Nisoldipine: 
Nitrendipine: 
Perhexiline (DG00334): 
Topiramate: 
Verapamil (DG00329): 
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    775 (CACNA1C)
   04020 Calcium signaling pathway
    775 (CACNA1C)
   04024 cAMP signaling pathway
    775 (CACNA1C)
   04022 cGMP - PKG signaling pathway
    775 (CACNA1C)
 Organismal Systems
  Endocrine system
   04911 Insulin secretion
    775 (CACNA1C)
   04912 GnRH signaling pathway
    775 (CACNA1C)
   04921 Oxytocin signaling pathway
    775 (CACNA1C)
   04924 Renin secretion
    775 (CACNA1C)
   04925 Aldosterone synthesis and secretion
    775 (CACNA1C)
  Circulatory system
   04260 Cardiac muscle contraction
    775 (CACNA1C)
   04261 Adrenergic signaling in cardiomyocytes
    775 (CACNA1C)
   04270 Vascular smooth muscle contraction
    775 (CACNA1C)
  Nervous system
   04724 Glutamatergic synapse
    775 (CACNA1C)
   04727 GABAergic synapse
    775 (CACNA1C)
   04725 Cholinergic synapse
    775 (CACNA1C)
   04728 Dopaminergic synapse
    775 (CACNA1C)
   04726 Serotonergic synapse
    775 (CACNA1C)
   04720 Long-term potentiation
    775 (CACNA1C)
   04723 Retrograde endocannabinoid signaling
    775 (CACNA1C)
  Sensory system
   04742 Taste transduction
    775 (CACNA1C)
  Environmental adaptation
   04713 Circadian entrainment
    775 (CACNA1C)
 Human Diseases
  Neurodegenerative diseases
   05010 Alzheimer's disease
    775 (CACNA1C)
  Substance dependence
   05031 Amphetamine addiction
    775 (CACNA1C)
  Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    775 (CACNA1C)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    775 (CACNA1C)
   05414 Dilated cardiomyopathy (DCM)
    775 (CACNA1C)
  Endocrine and metabolic diseases
   04930 Type II diabetes mellitus
    775 (CACNA1C)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN alpha-1, CaVx.x
   775 (CACNA1C)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
Q13936(Tclin)
UniProt: 
Structure
PDB: 

Jmol
Position
12p13.33
AA seq 2221 aa AA seqDB search
MVNENTRMYIPEENHQGSNYGSPRPAHANMNANAAAGLAPEHIPTPGAALSWQAAIDAAR
QAKLMGSAGNATISTVSSTQRKRQQYGKPKKQGSTTATRPPRALLCLTLKNPIRRACISI
VEWKPFEIIILLTIFANCVALAIYIPFPEDDSNATNSNLERVEYLFLIIFTVEAFLKVIA
YGLLFHPNAYLRNGWNLLDFIIVVVGLFSAILEQATKADGANALGGKGAGFDVKALRAFR
VLRPLRLVSGVPSLQVVLNSIIKAMVPLLHIALLVLFVIIIYAIIGLELFMGKMHKTCYN
QEGIADVPAEDDPSPCALETGHGRQCQNGTVCKPGWDGPKHGITNFDNFAFAMLTVFQCI
TMEGWTDVLYWVNDAVGRDWPWIYFVTLIIIGSFFVLNLVLGVLSGEFSKEREKAKARGD
FQKLREKQQLEEDLKGYLDWITQAEDIDPENEDEGMDEEKPRNMSMPTSETESVNTENVA
GGDIEGENCGARLAHRISKSKFSRYWRRWNRFCRRKCRAAVKSNVFYWLVIFLVFLNTLT
IASEHYNQPNWLTEVQDTANKALLALFTAEMLLKMYSLGLQAYFVSLFNRFDCFVVCGGI
LETILVETKIMSPLGISVLRCVRLLRIFKITRYWNSLSNLVASLLNSVRSIASLLLLLFL
FIIIFSLLGMQLFGGKFNFDEMQTRRSTFDNFPQSLLTVFQILTGEDWNSVMYDGIMAYG
GPSFPGMLVCIYFIILFICGNYILLNVFLAIAVDNLADAESLTSAQKEEEEEKERKKLAR
TASPEKKQELVEKPAVGESKEEKIELKSITADGESPPATKINMDDLQPNENEDKSPYPNP
ETTGEEDEEEPEMPVGPRPRPLSELHLKEKAVPMPEASAFFIFSSNNRFRLQCHRIVNDT
IFTNLILFFILLSSISLAAEDPVQHTSFRNHILFYFDIVFTTIFTIEIALKILGNADYVF
TSIFTLEIILKMTAYGAFLHKGSFCRNYFNILDLLVVSVSLISFGIQSSAINVVKILRVL
RVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIVIVTTLLQFMFACIGVQLFKGKLYTCSD
SSKQTEAECKGNYITYKDGEVDHPIIQPRSWENSKFDFDNVLAAMMALFTVSTFEGWPEL
LYRSIDSHTEDKGPIYNYRVEISIFFIIYIIIIAFFMMNIFVGFVIVTFQEQGEQEYKNC
ELDKNQRQCVEYALKARPLRRYIPKNQHQYKVWYVVNSTYFEYLMFVLILLNTICLAMQH
YGQSCLFKIAMNILNMLFTGLFTVEMILKLIAFKPKGYFSDPWNVFDFLIVIGSIIDVIL
SETNHYFCDAWNTFDALIVVGSIVDIAITEVNPAEHTQCSPSMNAEENSRISITFFRLFR
VMRLVKLLSRGEGIRTLLWTFIKSFQALPYVALLIVMLFFIYAVIGMQVFGKIALNDTTE
INRNNNFQTFPQAVLLLFRCATGEAWQDIMLACMPGKKCAPESEPSNSTEGETPCGSSFA
VFYFISFYMLCAFLIINLFVAVIMDNFDYLTRDWSILGPHHLDEFKRIWAEYDPEAKGRI
KHLDVVTLLRRIQPPLGFGKLCPHRVACKRLVSMNMPLNSDGTVMFNATLFALVRTALRI
KTEGNLEQANEELRAIIKKIWKRTSMKLLDQVVPPAGDDEVTVGKFYATFLIQEYFRKFK
KRKEQGLVGKPSQRNALSLQAGLRTLHDIGPEIRRAISGDLTAEEELDKAMKEAVSAASE
DDIFRRAGGLFGNHVSYYQSDGRSAFPQTFTTQRPLHINKAGSSQGDTESPSHEKLVDST
FTPSSYSSTGSNANINNANNTALGRLPRPAGYPSTVSTVEGHGPPLSPAIRVQEVAWKLS
SNRERHVPMCEDLELRRDSGSAGTQAHCLLLRRANPSRCHSRESQAAMAGQEETSQDETY
EVKMNHDTEACSEPSLLSTEMLSYQDDENRQLTLPEEDKRDIRQSPKRGFLRSASLGRRA
SFHLECLKRQKDRGGDISQKTVLPLHLVHHQALAVAGLSPLLQRSHSPASFPRPFATPPA
TPGSRGWPPQPVPTLRLEGVESSEKLNSSFPSIHCGSWAETTPGGGGSSAARRVRPVSLM
VPSQAGAPGRQFHGSASSLVEAVLISEGLGQFAQDPKFIEVTTQELADACDMTIEEMESA
ADNILSGGAPQSPNGALLPFVNCRDAGQDRAGGEEDAGCVRARGRPSEEELQDSRVYVSS
L
NT seq 6666 nt NT seq  +upstreamnt  +downstreamnt
atggtcaatgagaatacgaggatgtacattccagaggaaaaccaccaaggttccaactat
gggagcccacgccccgcccatgccaacatgaatgccaatgcggcagcggggctggcccct
gagcacatccccaccccgggggctgccctgtcgtggcaggcggccatcgacgcagcccgg
caggctaagctgatgggcagcgctggcaatgcgaccatctccacagtcagctccacgcag
cggaagcggcagcaatatgggaaacccaagaagcagggcagcaccacggccacacgcccg
ccccgagccctgctctgcctgaccctgaagaaccccatccggagggcctgcatcagcatt
gtcgaatggaaaccatttgaaataattattttactgactatttttgccaattgtgtggcc
ttagcgatctatattccctttccagaagatgattccaacgccaccaattccaacctggaa
cgagtggaatatctctttctcataatttttacggtggaagcgtttttaaaagtaatcgcc
tatggactcctctttcaccccaatgcctacctccgcaacggctggaacctactagatttt
ataattgtggttgtggggctttttagtgcaattttagaacaagcaaccaaagcagatggg
gcaaacgctctcggagggaaaggggccggatttgatgtgaaggcgctgagggccttccgc
gtgctgcgccccctgcggctggtgtccggagtcccaagtctccaggtggtcctgaattcc
atcatcaaggccatggtccccctgctgcacatcgccctgcttgtgctgtttgtcatcatc
atctacgccatcatcggcttggagctcttcatggggaagatgcacaagacctgctacaac
caggagggcatagcagatgttccagcagaagatgacccttccccttgtgcgctggaaacg
ggccacgggcggcagtgccagaacggcacggtgtgcaagcccggctgggatggtcccaag
cacggcatcaccaactttgacaactttgccttcgccatgctcacggtgttccagtgcatc
accatggagggctggacggacgtgctgtactgggtcaatgatgccgtaggaagggactgg
ccctggatctattttgttacactaatcatcatagggtcattttttgtacttaacttggtt
ctcggtgtgcttagcggagagttttccaaagagagggagaaggccaaggcccggggagat
ttccagaagctgcgggagaagcagcagctagaagaggatctcaaaggctacctggattgg
atcactcaggccgaagacatcgatcctgagaatgaggacgaaggcatggatgaggagaag
ccccgaaacatgagcatgcccaccagtgagaccgagtccgtcaacaccgaaaacgtggct
ggaggtgacatcgagggagaaaactgcggggccaggctggcccaccggatctccaagtca
aagttcagccgctactggcgccggtggaatcggttctgcagaaggaagtgccgcgccgca
gtcaagtctaatgtcttctactggctggtgattttcctggtgttcctcaacacgctcacc
attgcctctgagcactacaaccagcccaactggctcacagaagtccaagacacggcaaac
aaggccctgctggccctgttcacggcagagatgctcctgaagatgtacagcctgggcctg
caggcctacttcgtgtccctcttcaaccgctttgactgcttcgtcgtgtgtggcggcatc
ctggagaccatcctggtggagaccaagatcatgtccccactgggcatctccgtgctcaga
tgcgtccggctgctgaggattttcaagatcacgaggtactggaactccttgagcaacctg
gtggcatccttgctgaactctgtgcgctccatcgcctccctgctccttctcctcttcctc
ttcatcatcatcttctccctcctggggatgcagctctttggaggaaagttcaactttgat
gagatgcagacccggaggagcacattcgataacttcccccagtccctcctcactgtgttt
cagatcctgaccggggaggactggaattcggtgatgtatgatgggatcatggcttatggc
ggcccctcttttccagggatgttagtctgtatttacttcatcatcctcttcatctgtgga
aactatatcctactgaatgtgttcttggccattgctgtggacaacctggctgatgctgag
agcctcacatctgcccaaaaggaggaggaagaggagaaggagagaaagaagctggccagg
actgccagcccagagaagaaacaagagttggtggagaagccggcagtgggggaatccaag
gaggagaagattgagctgaaatccatcacggctgacggagagtctccacccgccaccaag
atcaacatggatgacctccagcccaatgaaaatgaggataagagcccctaccccaaccca
gaaactacaggagaagaggatgaggaggagccagagatgcctgtcggccctcgcccacga
ccactctctgagcttcaccttaaggaaaaggcagtgcccatgccagaagccagcgcgttt
ttcatcttcagctctaacaacaggtttcgcctccagtgccaccgcattgtcaatgacacg
atcttcaccaacctgatcctcttcttcattctgctcagcagcatttccctggctgctgag
gacccggtccagcacacctccttcaggaaccatattctgttttattttgatattgttttt
accaccattttcaccattgaaattgctctgaagatcctaggcaatgcagactatgtcttc
actagtatctttacattagaaattatccttaagatgactgcttatggggctttcttgcac
aagggttctttctgccggaactacttcaacatcctggacctgctggtggtcagcgtgtcc
ctcatctcctttggcatccagtccagtgcaatcaatgtcgtgaagatcttgcgagtcctg
cgagtactcaggcccctgagggccatcaacagggccaaggggctaaagcatgtggttcag
tgtgtgtttgtcgccatccggaccatcgggaacatcgtgattgtcaccaccctgctgcag
ttcatgtttgcctgcatcggggtccagctcttcaagggaaagctgtacacctgttcagac
agttccaagcagacagaggcggaatgcaagggcaactacatcacgtacaaagacggggag
gttgaccaccccatcatccaaccccgcagctgggagaacagcaagtttgactttgacaat
gttctggcagccatgatggccctcttcaccgtctccaccttcgaagggtggccagagctg
ctgtaccgctccatcgactcccacacggaagacaagggccccatctacaactaccgtgtg
gagatctccatcttcttcatcatctacatcatcatcatcgccttcttcatgatgaacatc
ttcgtgggcttcgtcatcgtcacctttcaggagcagggggagcaggagtacaagaactgt
gagctggacaagaaccagcgacagtgcgtggaatacgccctcaaggcccggcccctgcgg
aggtacatccccaagaaccagcaccagtacaaagtgtggtacgtggtcaactccacctac
ttcgagtacctgatgttcgtcctcatcctgctcaacaccatctgcctggccatgcagcac
tacggccagagctgcctgttcaaaatcgccatgaacatcctcaacatgctcttcactggc
ctcttcaccgtggagatgatcctgaagctcattgccttcaaacccaagggttactttagt
gatccctggaatgtttttgacttcctcatcgtaattggcagcataattgacgtcattctc
agtgagactaatcactatttctgtgatgcatggaatacatttgacgccttgattgttgtg
ggtagcattgttgatatagcaatcaccgaggtaaacccagctgaacatacccaatgctct
ccctctatgaacgcagaggaaaactcccgcatctccatcaccttcttccgcctgttccgg
gtcatgcgtctggtgaagctgctgagccgtggggagggcatccggacgctgctgtggacc
ttcatcaagtccttccaggccctgccctatgtggccctcctgatcgtgatgctgttcttc
atctacgcggtgatcgggatgcaggtgtttgggaaaattgccctgaatgataccacagag
atcaaccggaacaacaactttcagaccttcccccaggccgtgctgctcctcttcaggtgt
gccaccggggaggcctggcaggacatcatgctggcctgcatgccaggcaagaagtgtgcc
ccagagtccgagcccagcaacagcacggagggtgaaacaccctgtggtagcagctttgct
gtcttctacttcatcagcttctacatgctctgtgccttcctgatcatcaacctctttgta
gctgtcatcatggacaactttgactacctgacaagggactggtccatccttggtccccac
cacctggatgagtttaaaagaatctgggcagagtatgaccctgaagccaagggtcgtatc
aaacacctggatgtggtgaccctcctccggcggattcagccgccactaggttttgggaag
ctgtgccctcaccgcgtggcttgcaaacgcctggtctccatgaacatgcctctgaacagc
gacgggacagtcatgttcaatgccaccctgtttgccctggtcaggacggccctgaggatc
aaaacagaagggaacctagaacaagccaatgaggagctgcgggcgatcatcaagaagatc
tggaagcggaccagcatgaagctgctggaccaggtggtgccccctgcaggtgatgatgag
gtcaccgttggcaagttctacgccacgttcctgatccaggagtacttccggaagttcaag
aagcgcaaagagcagggccttgtgggcaagccctcccagaggaacgcgctgtctctgcag
gctggcttgcgcacactgcatgacatcgggcctgagatccgacgggccatctctggagat
ctcaccgctgaggaggagctggacaaggccatgaaggaggctgtgtccgctgcttctgaa
gatgacatcttcaggagggccggtggcctgttcggcaaccacgtcagctactaccaaagc
gacggccggagcgccttcccccagaccttcaccactcagcgcccgctgcacatcaacaag
gcgggcagcagccagggcgacactgagtcgccatcccacgagaagctggtggactccacc
ttcaccccgagcagctactcgtccaccggctccaacgccaacatcaacaacgccaacaac
accgccctgggtcgcctccctcgccccgccggctaccccagcacggtcagcactgtggag
ggccacgggccccccttgtcccctgccatccgggtgcaggaggtggcgtggaagctcagc
tccaacagggaaaggcacgttccgatgtgtgaggatctggagctcaggagggattcaggc
tcagcagggactcaggctcactgccttctgctcaggagagcaaacccctctaggtgccac
tcccgggagagccaggcagccatggcgggtcaggaggagacgtctcaggatgagacctat
gaagtgaagatgaaccatgacacggaggcctgcagtgagcccagcctgctctccacagag
atgctctcctaccaggatgacgaaaatcggcaactgacgctcccagaggaggacaagagg
gacatccggcaatctccgaagaggggtttcctccgctctgcctcactaggtcgaagggcc
tccttccacctggaatgtctgaagcgacagaaggaccgagggggagacatctctcagaag
acagtcctgcccttgcatctggttcatcatcaggcattggcagtggcaggcctgagcccc
ctcctccagagaagccattcccctgcctcattccctaggccttttgccaccccaccagcc
acacctggcagccgaggctggcccccacagcccgtccccaccctgcggcttgagggggtc
gagtccagtgagaaactcaacagcagcttcccatccatccactgcggctcctgggctgag
accacccccggtggcgggggcagcagcgccgcccggagagtccggcccgtctccctcatg
gtgcccagccaggctggggccccagggaggcagttccacggcagtgccagcagcctggtg
gaagcggtcttgatttcagaaggactggggcagtttgctcaagatcccaagttcatcgag
gtcaccacccaggagctggccgacgcctgcgacatgaccatagaggagatggagagcgcg
gccgacaacatcctcagcgggggcgccccacagagccccaatggcgccctcttacccttt
gtgaactgcagggacgcggggcaggaccgagccgggggcgaagaggacgcgggctgtgtg
cgcgcgcggggtcgaccgagtgaggaggagctccaggacagcagggtctacgtcagcagc
ctgtag

KEGG   Homo sapiens (human): 776Help
Entry
776               CDS       T01001                                 

Gene name
CACNA1D, CACH3, CACN4, CACNL1A2, CCHL1A2, Cav1.3, PASNA, SANDD
Definition
(RefSeq) calcium voltage-gated channel subunit alpha1 D
  KO
K04851  
voltage-dependent calcium channel L type alpha-1D
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
Calcium signaling pathway
cGMP-PKG signaling pathway
cAMP signaling pathway
Cellular senescence
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Vascular smooth muscle contraction
Tight junction
Circadian entrainment
Retrograde endocannabinoid signaling
Glutamatergic synapse
Cholinergic synapse
Serotonergic synapse
GABAergic synapse
Dopaminergic synapse
Insulin secretion
GnRH signaling pathway
Oxytocin signaling pathway
Renin secretion
Aldosterone synthesis and secretion
Type II diabetes mellitus
Carbohydrate digestion and absorption
Alzheimer's disease
Amphetamine addiction
Hypertrophic cardiomyopathy (HCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Dilated cardiomyopathy (DCM)
Disease
H01603  
Primary aldosteronism
Drug target
Amlodipine (DG00322): 
Aranidipine: 
Azelnidipine: 
Barnidipine (DG00325): 
Benidipine (DG00327): 
Bepridil (DG00333): 
Bevantolol: 
Cilnidipine: 
Clevidipine: 
Diltiazem: 
Dronedarone (DG00207): 
Efonidipine (DG01382): 
Felodipine: 
Fendiline (DG00332): 
Fostedil: 
Gallopamil (DG00330): 
Isradipine: 
Lacidipine: 
Lercanidipine (DG00326): 
Manidipine (DG00324): 
Nicardipine (DG00323): 
Nifedipine: 
Nilvadipine: 
Nimodipine: 
Nisoldipine: 
Nitrendipine: 
Perhexiline (DG00334): 
Topiramate: 
Verapamil (DG00329): 
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    776 (CACNA1D)
   04020 Calcium signaling pathway
    776 (CACNA1D)
   04024 cAMP signaling pathway
    776 (CACNA1D)
   04022 cGMP - PKG signaling pathway
    776 (CACNA1D)
 Cellular Processes
  Cell growth and death
   04218 Cellular senescence
    776 (CACNA1D)
  Cellular community - eukaryotes
   04530 Tight junction
    776 (CACNA1D)
 Organismal Systems
  Endocrine system
   04911 Insulin secretion
    776 (CACNA1D)
   04912 GnRH signaling pathway
    776 (CACNA1D)
   04921 Oxytocin signaling pathway
    776 (CACNA1D)
   04924 Renin secretion
    776 (CACNA1D)
   04925 Aldosterone synthesis and secretion
    776 (CACNA1D)
  Circulatory system
   04260 Cardiac muscle contraction
    776 (CACNA1D)
   04261 Adrenergic signaling in cardiomyocytes
    776 (CACNA1D)
   04270 Vascular smooth muscle contraction
    776 (CACNA1D)
  Digestive system
   04973 Carbohydrate digestion and absorption
    776 (CACNA1D)
  Nervous system
   04724 Glutamatergic synapse
    776 (CACNA1D)
   04727 GABAergic synapse
    776 (CACNA1D)
   04725 Cholinergic synapse
    776 (CACNA1D)
   04728 Dopaminergic synapse
    776 (CACNA1D)
   04726 Serotonergic synapse
    776 (CACNA1D)
   04723 Retrograde endocannabinoid signaling
    776 (CACNA1D)
  Environmental adaptation
   04713 Circadian entrainment
    776 (CACNA1D)
 Human Diseases
  Neurodegenerative diseases
   05010 Alzheimer's disease
    776 (CACNA1D)
  Substance dependence
   05031 Amphetamine addiction
    776 (CACNA1D)
  Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    776 (CACNA1D)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    776 (CACNA1D)
   05414 Dilated cardiomyopathy (DCM)
    776 (CACNA1D)
  Endocrine and metabolic diseases
   04930 Type II diabetes mellitus
    776 (CACNA1D)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN alpha-1, CaVx.x
   776 (CACNA1D)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
Q01668(Tclin)
UniProt: 
Position
3p21.1
AA seq 2161 aa AA seqDB search
MMMMMMMKKMQHQRQQQADHANEANYARGTRLPLSGEGPTSQPNSSKQTVLSWQAAIDAA
RQAKAAQTMSTSAPPPVGSLSQRKRQQYAKSKKQGNSSNSRPARALFCLSLNNPIRRACI
SIVEWKPFDIFILLAIFANCVALAIYIPFPEDDSNSTNHNLEKVEYAFLIIFTVETFLKI
IAYGLLLHPNAYVRNGWNLLDFVIVIVGLFSVILEQLTKETEGGNHSSGKSGGFDVKALR
AFRVLRPLRLVSGVPSLQVVLNSIIKAMVPLLHIALLVLFVIIIYAIIGLELFIGKMHKT
CFFADSDIVAEEDPAPCAFSGNGRQCTANGTECRSGWVGPNGGITNFDNFAFAMLTVFQC
ITMEGWTDVLYWMNDAMGFELPWVYFVSLVIFGSFFVLNLVLGVLSGEFSKEREKAKARG
DFQKLREKQQLEEDLKGYLDWITQAEDIDPENEEEGGEEGKRNTSMPTSETESVNTENVS
GEGENRGCCGSLCQAISKSKLSRRWRRWNRFNRRRCRAAVKSVTFYWLVIVLVFLNTLTI
SSEHYNQPDWLTQIQDIANKVLLALFTCEMLVKMYSLGLQAYFVSLFNRFDCFVVCGGIT
ETILVELEIMSPLGISVFRCVRLLRIFKVTRHWTSLSNLVASLLNSMKSIASLLLLLFLF
IIIFSLLGMQLFGGKFNFDETQTKRSTFDNFPQALLTVFQILTGEDWNAVMYDGIMAYGG
PSSSGMIVCIYFIILFICGNYILLNVFLAIAVDNLADAESLNTAQKEEAEEKERKKIARK
ESLENKKNNKPEVNQIANSDNKVTIDDYREEDEDKDPYPPCDVPVGEEEEEEEEDEPEVP
AGPRPRRISELNMKEKIAPIPEGSAFFILSKTNPIRVGCHKLINHHIFTNLILVFIMLSS
AALAAEDPIRSHSFRNTILGYFDYAFTAIFTVEILLKMTTFGAFLHKGAFCRNYFNLLDM
LVVGVSLVSFGIQSSAISVVKILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIMI
VTTLLQFMFACIGVQLFKGKFYRCTDEAKSNPEECRGLFILYKDGDVDSPVVRERIWQNS
DFNFDNVLSAMMALFTVSTFEGWPALLYKAIDSNGENIGPIYNHRVEISIFFIIYIIIVA
FFMMNIFVGFVIVTFQEQGEKEYKNCELDKNQRQCVEYALKARPLRRYIPKNPYQYKFWY
VVNSSPFEYMMFVLIMLNTLCLAMQHYEQSKMFNDAMDILNMVFTGVFTVEMVLKVIAFK
PKGYFSDAWNTFDSLIVIGSIIDVALSEADPTESENVPVPTATPGNSEESNRISITFFRL
FRVMRLVKLLSRGEGIRTLLWTFIKSFQALPYVALLIAMLFFIYAVIGMQMFGKVAMRDN
NQINRNNNFQTFPQAVLLLFRCATGEAWQEIMLACLPGKLCDPESDYNPGEEYTCGSNFA
IVYFISFYMLCAFLIINLFVAVIMDNFDYLTRDWSILGPHHLDEFKRIWSEYDPEAKGRI
KHLDVVTLLRRIQPPLGFGKLCPHRVACKRLVAMNMPLNSDGTVMFNATLFALVRTALKI
KTEGNLEQANEELRAVIKKIWKKTSMKLLDQVVPPAGDDEVTVGKFYATFLIQDYFRKFK
KRKEQGLVGKYPAKNTTIALQAGLRTLHDIGPEIRRAISCDLQDDEPEETKREEEDDVFK
RNGALLGNHVNHVNSDRRDSLQQTNTTHRPLHVQRPSIPPASDTEKPLFPPAGNSVCHNH
HNHNSIGKQVPTSTNANLNNANMSKAAHGKRPSIGNLEHVSENGHHSSHKHDREPQRRSS
VKRTRYYETYIRSDSGDEQLPTICREDPEIHGYFRDPHCLGEQEYFSSEECYEDDSSPTW
SRQNYGYYSRYPGRNIDSERPRGYHHPQGFLEDDDSPVCYDSRRSPRRRLLPPTPASHRR
SSFNFECLRRQSSQEEVPSSPIFPHRTALPLHLMQQQIMAVAGLDSSKAQKYSPSHSTRS
WATPPATPPYRDWTPCYTPLIQVEQSEALDQVNGSLPSLHRSSWYTDEPDISYRTFTPAS
LTVPSSFRNKNSDKQRSADSLVEAVLISEGLGRYARDPKFVSATKHEIADACDLTIDEME
SAASTLLNGNVRPRANGDVGPLSHRQDYELQDFGPGYSDEEPDPGRDEEDLADEMICITT
L
NT seq 6486 nt NT seq  +upstreamnt  +downstreamnt
atgatgatgatgatgatgatgaaaaaaatgcagcatcaacggcagcagcaagcggaccac
gcgaacgaggcaaactatgcaagaggcaccagacttcctctttctggtgaaggaccaact
tctcagccgaatagctccaagcaaactgtcctgtcttggcaagctgcaatcgatgctgct
agacaggccaaggctgcccaaactatgagcacctctgcacccccacctgtaggatctctc
tcccaaagaaaacgtcagcaatacgccaagagcaaaaaacagggtaactcgtccaacagc
cgacctgcccgcgcccttttctgtttatcactcaataaccccatccgaagagcctgcatt
agtatagtggaatggaaaccatttgacatatttatattattggctatttttgccaattgt
gtggccttagctatttacatcccattccctgaagatgattctaattcaacaaatcataac
ttggaaaaagtagaatatgccttcctgattatttttacagtcgagacatttttgaagatt
atagcgtatggattattgctacatcctaatgcttatgttaggaatggatggaatttactg
gattttgttatagtaatagtaggattgtttagtgtaattttggaacaattaaccaaagaa
acagaaggcgggaaccactcaagcggcaaatctggaggctttgatgtcaaagccctccgt
gcctttcgagtgttgcgaccacttcgactagtgtcaggagtgcccagtttacaagttgtc
ctgaactccattataaaagccatggttcccctccttcacatagcccttttggtattattt
gtaatcataatctatgctattataggattggaactttttattggaaaaatgcacaaaaca
tgtttttttgctgactcagatatcgtagctgaagaggacccagctccatgtgcgttctca
gggaatggacgccagtgtactgccaatggcacggaatgtaggagtggctgggttggcccg
aacggaggcatcaccaactttgataactttgcctttgccatgcttactgtgtttcagtgc
atcaccatggagggctggacagatgtgctctactggatgaatgatgctatgggatttgaa
ttgccctgggtgtattttgtcagtctcgtcatctttgggtcatttttcgtactaaatctt
gtacttggtgtattgagcggagaattctcaaaggaaagagagaaggcaaaagcacgggga
gatttccagaagctccgggagaagcagcagctggaggaggatctaaagggctacttggat
tggatcacccaagctgaggacatcgatccggagaatgaggaagaaggaggagaggaaggc
aaacgaaatactagcatgcccaccagcgagactgagtctgtgaacacagagaacgtcagc
ggtgaaggcgagaaccgaggctgctgtggaagtctctgtcaagccatctcaaaatccaaa
ctcagccgacgctggcgtcgctggaaccgattcaatcgcagaagatgtagggccgccgtg
aagtctgtcacgttttactggctggttatcgtcctggtgtttctgaacaccttaaccatt
tcctctgagcactacaatcagccagattggttgacacagattcaagatattgccaacaaa
gtcctcttggctctgttcacctgcgagatgctggtaaaaatgtacagcttgggcctccaa
gcatatttcgtctctcttttcaaccggtttgattgcttcgtggtgtgtggtggaatcact
gagacgatcttggtggaactggaaatcatgtctcccctggggatctctgtgtttcggtgt
gtgcgcctcttaagaatcttcaaagtgaccaggcactggacttccctgagcaacttagtg
gcatccttattaaactccatgaagtccatcgcttcgctgttgcttctgctttttctcttc
attatcatcttttccttgcttgggatgcagctgtttggcggcaagtttaattttgatgaa
acgcaaaccaagcggagcacctttgacaatttccctcaagcacttctcacagtgttccag
atcctgacaggcgaagactggaatgctgtgatgtacgatggcatcatggcttacgggggc
ccatcctcttcaggaatgatcgtctgcatctacttcatcatcctcttcatttgtggtaac
tatattctactgaatgtcttcttggccatcgctgtagacaatttggctgatgctgaaagt
ctgaacactgctcagaaagaagaagcggaagaaaaggagaggaaaaagattgccagaaaa
gagagcctagaaaataaaaagaacaacaaaccagaagtcaaccagatagccaacagtgac
aacaaggttacaattgatgactatagagaagaggatgaagacaaggacccctatccgcct
tgcgatgtgccagtaggggaagaggaagaggaagaggaggaggatgaacctgaggttcct
gccggaccccgtcctcgaaggatctcggagttgaacatgaaggaaaaaattgcccccatc
cctgaagggagcgctttcttcattcttagcaagaccaacccgatccgcgtaggctgccac
aagctcatcaaccaccacatcttcaccaacctcatccttgtcttcatcatgctgagcagc
gctgccctggccgcagaggaccccatccgcagccactccttccggaacacgatactgggt
tactttgactatgccttcacagccatctttactgttgagatcctgttgaagatgacaact
tttggagctttcctccacaaaggggccttctgcaggaactacttcaatttgctggatatg
ctggtggttggggtgtctctggtgtcatttgggattcaatccagtgccatctccgttgtg
aagattctgagggtcttaagggtcctgcgtcccctcagggccatcaacagagcaaaagga
cttaagcacgtggtccagtgcgtcttcgtggccatccggaccatcggcaacatcatgatc
gtcaccaccctcctgcagttcatgtttgcctgtatcggggtccagttgttcaaggggaag
ttctatcgctgtacggatgaagccaaaagtaaccctgaagaatgcaggggacttttcatc
ctctacaaggatggggatgttgacagtcctgtggtccgtgaacggatctggcaaaacagt
gatttcaacttcgacaacgtcctctctgctatgatggcgctcttcacagtctccacgttt
gagggctggcctgcgttgctgtataaagccatcgactcgaatggagagaacatcggccca
atctacaaccaccgcgtggagatctccatcttcttcatcatctacatcatcattgtagct
ttcttcatgatgaacatctttgtgggctttgtcatcgttacatttcaggaacaaggagaa
aaagagtataagaactgtgagctggacaaaaatcagcgtcagtgtgttgaatacgccttg
aaagcacgtcccttgcggagatacatccccaaaaacccctaccagtacaagttctggtac
gtggtgaactcttcgcctttcgaatacatgatgtttgtcctcatcatgctcaacacactc
tgcttggccatgcagcactacgagcagtccaagatgttcaatgatgccatggacattctg
aacatggtcttcaccggggtgttcaccgtcgagatggttttgaaagtcatcgcatttaag
cctaaggggtattttagtgacgcctggaacacgtttgactccctcatcgtaatcggcagc
attatagacgtggccctcagcgaagcagacccaactgaaagtgaaaatgtccctgtccca
actgctacacctgggaactctgaagagagcaatagaatctccatcacctttttccgtctt
ttccgagtgatgcgattggtgaagcttctcagcaggggggaaggcatccggacattgctg
tggacttttattaagtcctttcaggcgctcccgtatgtggccctcctcatagccatgctg
ttcttcatctatgcggtcattggcatgcagatgtttgggaaagttgccatgagagataac
aaccagatcaataggaacaataacttccagacgtttccccaggcggtgctgctgctcttc
aggtgtgcaacaggtgaggcctggcaggagatcatgctggcctgtctcccagggaagctc
tgtgaccctgagtcagattacaaccccggggaggagtatacatgtgggagcaactttgcc
attgtctatttcatcagtttttacatgctctgtgcatttctgatcatcaatctgtttgtg
gctgtcatcatggataatttcgactatctgacccgggactggtctattttggggcctcac
catttagatgaattcaaaagaatatggtcagaatatgaccctgaggcaaagggaaggata
aaacaccttgatgtggtcactctgcttcgacgcatccagcctcccctggggtttgggaag
ttatgtccacacagggtagcgtgcaagagattagttgccatgaacatgcctctcaacagt
gacgggacagtcatgtttaatgcaaccctgtttgctttggttcgaacggctcttaagatc
aagaccgaagggaacctggagcaagctaatgaagaacttcgggctgtgataaagaaaatt
tggaagaaaaccagcatgaaattacttgaccaagttgtccctccagctggtgatgatgag
gtaaccgtggggaagttctatgccactttcctgatacaggactactttaggaaattcaag
aaacggaaagaacaaggactggtgggaaagtaccctgcgaagaacaccacaattgcccta
caggcgggattaaggacactgcatgacattgggccagaaatccggcgtgctatatcgtgt
gatttgcaagatgacgagcctgaggaaacaaaacgagaagaagaagatgatgtgttcaaa
agaaatggtgccctgcttggaaaccatgtcaatcatgttaatagtgataggagagattcc
cttcagcagaccaataccacccaccgtcccctgcatgtccaaaggccttcaattccacct
gcaagtgatactgagaaaccgctgtttcctccagcaggaaattcggtgtgtcataaccat
cataaccataattccataggaaagcaagttcccacctcaacaaatgccaatctcaataat
gccaatatgtccaaagctgcccatggaaagcggcccagcattgggaaccttgagcatgtg
tctgaaaatgggcatcattcttcccacaagcatgaccgggagcctcagagaaggtccagt
gtgaaaagaacccgctattatgaaacttacattaggtccgactcaggagatgaacagctc
ccaactatttgccgggaagacccagagatacatggctatttcagggacccccactgcttg
ggggagcaggagtatttcagtagtgaggaatgctacgaggatgacagctcgcccacctgg
agcaggcaaaactatggctactacagcagatacccaggcagaaacatcgactctgagagg
ccccgaggctaccatcatccccaaggattcttggaggacgatgactcgcccgtttgctat
gattcacggagatctccaaggagacgcctactacctcccaccccagcatcccaccggaga
tcctccttcaactttgagtgcctgcgccggcagagcagccaggaagaggtcccgtcgtct
cccatcttcccccatcgcacggccctgcctctgcatctaatgcagcaacagatcatggca
gttgccggcctagattcaagtaaagcccagaagtactcaccgagtcactcgacccggtcg
tgggccacccctccagcaacccctccctaccgggactggacaccgtgctacacccccctg
atccaagtggagcagtcagaggccctggaccaggtgaacggcagcctgccgtccctgcac
cgcagctcctggtacacagacgagcccgacatctcctaccggactttcacaccagccagc
ctgactgtccccagcagcttccggaacaaaaacagcgacaagcagaggagtgcggacagc
ttggtggaggcagtcctgatatccgaaggcttgggacgctatgcaagggacccaaaattt
gtgtcagcaacaaaacacgaaatcgctgatgcctgtgacctcaccatcgacgagatggag
agtgcagccagcaccctgcttaatgggaacgtgcgtccccgagccaacggggatgtgggc
cccctctcacaccggcaggactatgagctacaggactttggtcctggctacagcgacgaa
gagccagaccctgggagggatgaggaggacctggcggatgaaatgatatgcatcaccacc
ttgtag

KEGG   Homo sapiens (human): 777Help
Entry
777               CDS       T01001                                 

Gene name
CACNA1E, BII, CACH6, CACNL1A6, Cav2.3, gm139
Definition
(RefSeq) calcium voltage-gated channel subunit alpha1 E
  KO
K04852  
voltage-dependent calcium channel R type alpha-1E
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
Calcium signaling pathway
Type II diabetes mellitus
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    777 (CACNA1E)
   04020 Calcium signaling pathway
    777 (CACNA1E)
 Human Diseases
  Endocrine and metabolic diseases
   04930 Type II diabetes mellitus
    777 (CACNA1E)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN alpha-1, CaVx.x
   777 (CACNA1E)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
Q15878(Tbio)
UniProt: 
Position
1q25.3
AA seq 2313 aa AA seqDB search
MARFGEAVVARPGSGDGDSDQSRNRQGTPVPASGQAAAYKQTKAQRARTMALYNPIPVRQ
NCFTVNRSLFIFGEDNIVRKYAKKLIDWPPFEYMILATIIANCIVLALEQHLPEDDKTPM
SRRLEKTEPYFIGIFCFEAGIKIVALGFIFHKGSYLRNGWNVMDFIVVLSGILATAGTHF
NTHVDLRTLRAVRVLRPLKLVSGIPSLQIVLKSIMKAMVPLLQIGLLLFFAILMFAIIGL
EFYSGKLHRACFMNNSGILEGFDPPHPCGVQGCPAGYECKDWIGPNDGITQFDNILFAVL
TVFQCITMEGWTTVLYNTNDALGATWNWLYFIPLIIIGSFFVLNLVLGVLSGEFAKERER
VENRRAFMKLRRQQQIERELNGYRAWIDKAEEVMLAEENKNAGTSALEVLRRATIKRSRT
EAMTRDSSDEHCVDISSVGTPLARASIKSAKVDGVSYFRHKERLLRISIRHMVKSQVFYW
IVLSLVALNTACVAIVHHNQPQWLTHLLYYAEFLFLGLFLLEMSLKMYGMGPRLYFHSSF
NCFDFGVTVGSIFEVVWAIFRPGTSFGISVLRALRLLRIFKITKYWASLRNLVVSLMSSM
KSIISLLFLLFLFIVVFALLGMQLFGGRFNFNDGTPSANFDTFPAAIMTVFQILTGEDWN
EVMYNGIRSQGGVSSGMWSAIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEE
EAFNQKHALQKAKEVSPMSAPNMPSIERDRRRRHHMSMWEPRSSHLRERRRRHHMSVWEQ
RTSQLRKHMQMSSQEALNREEAPTMNPLNPLNPLSSLNPLNAHPSLYRRPRAIEGLALGL
ALEKFEEERISRGGSLKGDGGDRSSALDNQRTPLSLGQREPPWLARPCHGNCDPTQQEAG
GGEAVVTFEDRARHRQSQRRSRHRRVRTEGKESSSASRSRSASQERSLDEAMPTEGEKDH
ELRGNHGAKEPTIQEERAQDLRRTNSLMVSRGSGLAGGLDEADTPLVLPHPELEVGKHVV
LTEQEPEGSSEQALLGNVQLDMGRVISQSEPDLSCITANTDKATTESTSVTVAIPDVDPL
VDSTVVHISNKTDGEASPLKEAEIREDEEEVEKKKQKKEKRETGKAMVPHSSMFIFSTTN
PIRRACHYIVNLRYFEMCILLVIAASSIALAAEDPVLTNSERNKVLRYFDYVFTGVFTFE
MVIKMIDQGLILQDGSYFRDLWNILDFVVVVGALVAFALANALGTNKGRDIKTIKSLRVL
RVLRPLKTIKRLPKLKAVFDCVVTSLKNVFNILIVYKLFMFIFAVIAVQLFKGKFFYCTD
SSKDTEKECIGNYVDHEKNKMEVKGREWKRHEFHYDNIIWALLTLFTVSTGEGWPQVLQH
SVDVTEEDRGPSRSNRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEECSLE
KNERACIDFAISAKPLTRYMPQNRHTFQYRVWHFVVSPSFEYTIMAMIALNTVVLMMKYY
SAPCTYELALKYLNIAFTMVFSLECVLKVIAFGFLNYFRDTWNIFDFITVIGSITEIILT
DSKLVNTSGFNMSFLKLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFI
YAIIGMQVFGNIKLDEESHINRHNNFRSFFGSLMLLFRSATGEAWQEIMLSCLGEKGCEP
DTTAPSGQNENERCGTDLAYVYFVSFIFFCSFLMLNLFVAVIMDNFEYLTRDSSILGPHH
LDEFVRVWAEYDRAACGRIHYTEMYEMLTLMSPPLGLGKRCPSKVAYKRLVLMNMPVAED
MTVHFTSTLMALIRTALDIKIAKGGADRQQLDSELQKETLAIWPHLSQKMLDLLVPMPKA
SDLTVGKIYAAMMIMDYYKQSKVKKQRQQLEEQKNAPMFQRMEPSSLPQEIIANAKALPY
LQQDPVSGLSGRSGYPSMSPLSPQDIFQLACMDPADDGQFQERQSLEPEVSELKSVQPSN
HGIYLPSDTQEHAGSGRASSMPRLTVDPQVVTDPSSMRRSFSTIRDKRSNSSWLEEFSME
RSSENTYKSRRRSYHSSLRLSAHRLNSDSGHKSDTHRSGGRERGRSKERKHLLSPDVSRC
NSEERGTQADWESPERRQSRSPSEGRSQTPNRQGTGSLSESSIPSVSDTSTPRRSRRQLP
PVPPKPRPLLSYSSLIRHAGSISPPADGSEEGSPLTSQALESNNACLTESSNSPHPQQSQ
HASPQRYISEPYLALHEDSHASDCGEEETLTFEAAVATSLGRSNTIGSAPPLRHSWQMPN
GHYRRRRRGGPGPGMMCGAVNNLLSDTEEDDKC
NT seq 6942 nt NT seq  +upstreamnt  +downstreamnt
atggctcgcttcggggaggcggtggtcgccaggccagggtccggcgatggagactcggac
cagagcaggaaccggcaaggaacccccgtgccggcctcggggcaggcggccgcctacaag
cagacgaaagcacagagggcgcggactatggctttgtacaaccccattcccgtccggcag
aactgtttcaccgtcaacagatccctgttcatcttcggagaagataacattgtcaggaaa
tatgccaagaagctcatcgattggccgccatttgagtacatgatcctggccaccatcatt
gccaactgcatcgtcctggccctggagcagcatcttcctgaggatgacaagacccccatg
tcccgaagactggagaagacagaaccttatttcattgggatcttttgctttgaagctggg
atcaaaattgtggccctggggttcatcttccataagggctcttacctccgcaatggctgg
aatgtcatggacttcatcgtggtcctcagtggcatcctggccactgcaggaacccacttc
aatactcacgtggacctgaggaccctccgggctgtgcgtgtcctgcggcctttgaagctc
gtgtcagggatacctagcctgcagattgtgttgaagtccatcatgaaggccatggtacct
cttctgcagattggccttctgctcttctttgccatcctgatgtttgctatcattggtttg
gagttctacagtggcaagttacatcgagcatgcttcatgaacaattcaggtattctagaa
ggatttgacccccctcacccatgtggtgtgcagggctgcccagctggttatgaatgcaag
gactggatcggccccaatgatgggatcacccagtttgataacatcctttttgctgtgctg
actgtcttccagtgcatcaccatggaagggtggaccactgtgctgtacaataccaatgat
gccttaggagccacctggaattggctgtacttcatccccctcatcatcattggatccttc
tttgttctcaacctagtcctgggagtgctttccggggaatttgccaaagagagagagaga
gtggagaaccgaagggctttcatgaagctgcggcgccagcagcagattgagcgtgagctg
aatggctaccgtgcctggatagacaaagcagaggaagtcatgctcgctgaagaaaataaa
aatgctggaacatccgccttagaagtgcttcgaagggcaaccatcaagaggagccggaca
gaggccatgactcgagactccagtgatgagcactgtgttgatatctcctctgtgggcaca
cctctggcccgagccagtatcaaaagtgcaaaggtagacggggtctcttatttccggcac
aaggaaaggcttctgcgcatctccattcgccacatggttaaatcccaggtgttttactgg
attgtgctgagccttgtggcactcaacactgcctgtgtggccattgtccatcacaaccag
ccccagtggctcacccacctcctctactatgcagaatttctgtttctgggactcttcctc
ttggagatgtccctgaagatgtatggcatggggcctcgcctttattttcactcttcattc
aactgctttgattttggggtcacagtgggcagtatctttgaagtggtctgggcaatcttc
agacctggtacgtcttttggaatcagtgtcttgcgagccctccggcttctaagaatattt
aaaataaccaagtattgggcttccctacggaatttggtggtctccttgatgagctcaatg
aagtctatcatcagtttgcttttcctcctcttcctcttcatcgttgtctttgctctccta
ggaatgcagttatttggaggcaggtttaactttaatgatgggactccttcggcaaatttt
gataccttccctgcagccatcatgactgtgttccagatcctgacgggtgaggactggaat
gaggtgatgtacaatgggatccgctcccagggtggggtcagctcaggcatgtggtctgcc
atctacttcattgtgctcaccttgtttggcaactacacgctactgaatgtgttcttggct
atcgctgtggataatctcgccaacgcccaggaactgaccaaggatgaacaggaggaagaa
gaggccttcaaccagaaacatgcactgcagaaggccaaggaggtcagcccgatgtctgca
cccaacatgccttcgatcgaaagagacagaaggagaagacaccacatgtcgatgtgggag
ccacgcagcagccacctgagggagcggaggcgccggcaccacatgtccgtgtgggagcag
cgtaccagccagctgaggaagcacatgcagatgtccagccaggaggccctcaacagagag
gaggcgccgaccatgaacccgctcaaccccctcaacccgctcagctccctcaacccgctc
aatgcccaccccagcctttatcggcgacccagggccattgagggcctggccctgggcctg
gccctggagaagttcgaggaggagcgcatcagccgtggggggtccctcaagggggatgga
ggggaccgatccagtgccctggacaaccagaggacccctttgtccctgggccagcgggag
ccaccatggctggccaggccctgtcatggaaactgtgacccgactcagcaggaggcaggg
ggaggagaggctgtggtgacctttgaggaccgggccaggcacaggcagagccaacggcgc
agccggcatcgccgcgtcaggacagaaggcaaggagtcctcttcagcctcccggagcagg
tctgccagccaggaacgcagtctggatgaagccatgcccactgaaggggagaaggaccat
gagctcaggggcaaccatggtgccaaggagccaacgatccaagaagagagagcccaggat
ttaaggaggaccaacagtctgatggtgtccagaggctccgggctggcaggaggccttgat
gaggctgacacccccctagtcctgccccatcctgagctggaagtggggaagcacgtggtg
ctgacggagcaggagccagaaggcagcagtgagcaggccctgctggggaatgtgcagcta
gacatgggccgggtcatcagccagagcgagcctgacctctcctgcatcacggccaacacg
gacaaggccaccaccgagagcaccagcgtcaccgtcgccatccccgacgtggaccccttg
gtggactcaaccgtggtgcacattagcaacaagacggatggggaagccagtcccttgaag
gaggcagagatcagagaggatgaggaggaggtggagaagaagaagcagaagaaggagaag
cgtgagacaggcaaagccatggtgccccacagctcaatgttcatcttcagcaccaccaac
ccgatccggagggcctgccactacatcgtgaacctgcgctactttgagatgtgcatcctc
ctggtgattgcagccagcagcatcgccctggcggcagaggaccccgtcctgaccaactcg
gagcgcaacaaagtcctgaggtattttgactatgtgttcacgggcgtgttcacctttgag
atggttataaagatgatagaccaaggcttgatcctgcaggatgggtcctacttccgagac
ttgtggaacatcctggactttgtggtggtcgttggcgcattggtggcctttgctctggcg
aacgctttgggaaccaacaaaggacgggacatcaagaccatcaagtctctgcgggtgctc
cgagttctaaggccactgaaaaccatcaagcgcttgcccaagctcaaggccgtcttcgac
tgcgtagtgacctccttgaagaatgtcttcaacatactcattgtgtacaagctcttcatg
ttcatctttgctgtcatcgcagttcagctcttcaagggaaagttcttttattgcacggac
agttccaaggacacagagaaggagtgcataggcaactatgtagatcatgagaaaaacaag
atggaggtgaagggccgggaatggaagcgccatgaattccactacgacaacattatctgg
gccctgctgaccctcttcaccgtctccacaggggaaggatggcctcaagttctgcagcac
tctgtagatgtgacagaggaagaccgaggcccaagccgcagcaaccgcatggagatgtct
atcttttatgtagtctactttgtggtcttccccttcttctttgtcaatatctttgtggct
ctcatcatcatcaccttccaggagcaaggggataagatgatggaggagtgcagcctggag
aagaatgagagggcgtgcatcgacttcgccatcagcgccaaacctctcacccgctacatg
ccgcagaacagacacaccttccagtaccgcgtgtggcactttgtggtgtctccgtccttt
gagtacaccattatggccatgatcgccttgaatactgttgtgctgatgatgaagtattat
tctgctccctgtacctatgagctggccctgaagtacctgaatatcgccttcaccatggtg
ttttccctggaatgtgtcctgaaggtcatcgcttttggctttttgaactatttccgagac
acctggaatatctttgacttcatcaccgtgattggcagtatcacagaaattatcctgaca
gacagcaagctggtgaacaccagtggcttcaatatgagctttctgaagctcttccgagct
gcccgcctcataaagctcctgcgtcagggctataccatacgcattttgctgtggaccttt
gtgcagtcctttaaggccctcccttatgtctgccttttaattgccatgcttttcttcatt
tatgccatcattgggatgcaggtatttggaaacataaaattagacgaggagagtcacatc
aaccggcacaacaacttccggagtttctttgggtccctaatgctactcttcaggagtgcc
acaggtgaggcctggcaggagattatgctgtcatgccttggggagaagggctgtgagcct
gacaccaccgcaccatcagggcagaacgagaacgaacgctgcggcaccgatctggcctac
gtgtactttgtctccttcatcttcttctgctccttcttgatgctcaacctgtttgtggcc
gtcatcatggacaactttgagtacctgactcgggactcctccatcctggggcctcaccac
ttggacgagtttgtccgcgtctgggcagaatatgaccgagcagcatgtggccgcatccat
tacactgagatgtatgaaatgctgactctcatgtcacctccgctaggcctcggcaagaga
tgtccctccaaagtggcatataagaggttggtcctgatgaacatgccagtagctgaggac
atgacggtccacttcacctccacacttatggctctgatccggacagctctggacattaaa
attgccaaaggtggtgcagacaggcagcagctagactcagagctacaaaaggagacccta
gccatctggcctcacctatcccagaagatgctggatctgcttgtgcccatgcccaaagcc
tctgacctgactgtgggcaaaatctatgcagcaatgatgatcatggactactataagcag
agtaaggtgaagaagcagaggcagcagctggaggaacagaaaaatgcccccatgttccag
cgcatggagccttcatctctgcctcaggagatcattgctaatgccaaagccctgccttac
ctccagcaggaccccgtttcaggcctgagtggccggagtggatacccttcgatgagtcca
ctctctccccaggatatattccagttggcttgtatggaccccgccgatgacggacagttc
caagaacggcagtctctggagccagaggttagtgaattaaaaagcgtgcagccctctaac
catggcatctaccttccttcggacacccaggagcatgcgggatctgggagggcatcttct
atgccacgtctgactgtggatccccaggtggtgacagaccctagctccatgagacgttca
ttttccactattcgggataagcgttcaaattcctcgtggttggaggaattctccatggag
cgaagcagtgaaaatacctacaagtcccgtcgccggagttaccactcctccttgcggctg
tcagcccaccgcctgaactctgattcaggccacaagtctgacactcaccgctcagggggc
agggagcggggacgatcaaaagagcgaaagcatcttctctctcctgatgtctcccgctgc
aattcagaagagcgagggacccaggctgactgggagtccccagagcgccgtcaatccagg
tcacccagtgagggcaggtcacagacgcccaacagacagggcacaggttccctaagtgag
agctccatcccctctgtctctgacaccagcaccccaagaagaagtcgtcggcagctccca
cccgtcccgccaaagccccggcccctcctttcctacagctccctgattcgacacgcgggc
agcatctctccacctgctgatggaagcgaggagggctccccgctgacctcccaagctctg
gagagcaacaatgcttgcctgaccgagtcttccaactctccgcacccccagcagagccaa
catgcctccccacagcgctacatctccgagccctacttggccctgcacgaagactcccac
gcctcagactgtggtgaggaggagacgctcactttcgaagcagccgtggctactagcctg
ggccgttccaacaccatcggctcagccccacccctgcggcatagctggcagatgcccaac
gggcactatcggcggcggaggcgcggggggcctgggccaggcatgatgtgtggggctgtc
aacaacctgctaagtgacacggaagaagatgacaaatgctag

KEGG   Homo sapiens (human): 778Help
Entry
778               CDS       T01001                                 

Gene name
CACNA1F, AIED, COD3, COD4, CORDX, CORDX3, CSNB2, CSNB2A, CSNBX2, Cav1.4, Cav1.4alpha1, JM8, JMC8, OA2
Definition
(RefSeq) calcium voltage-gated channel subunit alpha1 F
  KO
K04853  
voltage-dependent calcium channel L type alpha-1F
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
Calcium signaling pathway
cGMP-PKG signaling pathway
cAMP signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Vascular smooth muscle contraction
Retrograde endocannabinoid signaling
Cholinergic synapse
Serotonergic synapse
GABAergic synapse
Insulin secretion
GnRH signaling pathway
Oxytocin signaling pathway
Renin secretion
Aldosterone synthesis and secretion
Alzheimer's disease
Hypertrophic cardiomyopathy (HCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Dilated cardiomyopathy (DCM)
Disease
H00481  
Cone-rod dystrophy and cone dystrophy
H00690  
Aland Island eye disease
H00787  
Congenital stationary night blindness (CSNB)
Drug target
Amlodipine (DG00322): 
Aranidipine: 
Azelnidipine: 
Barnidipine (DG00325): 
Benidipine (DG00327): 
Bepridil (DG00333): 
Bevantolol: 
Cilnidipine: 
Clevidipine: 
Diltiazem: 
Dronedarone (DG00207): 
Efonidipine (DG01382): 
Felodipine: 
Fendiline (DG00332): 
Fostedil: 
Gallopamil (DG00330): 
Isradipine: 
Lacidipine: 
Lercanidipine (DG00326): 
Manidipine (DG00324): 
Nicardipine (DG00323): 
Nifedipine: 
Nilvadipine: 
Nimodipine: 
Nisoldipine: 
Nitrendipine: 
Perhexiline (DG00334): 
Topiramate: 
Verapamil (DG00329): 
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    778 (CACNA1F)
   04020 Calcium signaling pathway
    778 (CACNA1F)
   04024 cAMP signaling pathway
    778 (CACNA1F)
   04022 cGMP - PKG signaling pathway
    778 (CACNA1F)
 Organismal Systems
  Endocrine system
   04911 Insulin secretion
    778 (CACNA1F)
   04912 GnRH signaling pathway
    778 (CACNA1F)
   04921 Oxytocin signaling pathway
    778 (CACNA1F)
   04924 Renin secretion
    778 (CACNA1F)
   04925 Aldosterone synthesis and secretion
    778 (CACNA1F)
  Circulatory system
   04260 Cardiac muscle contraction
    778 (CACNA1F)
   04261 Adrenergic signaling in cardiomyocytes
    778 (CACNA1F)
   04270 Vascular smooth muscle contraction
    778 (CACNA1F)
  Nervous system
   04727 GABAergic synapse
    778 (CACNA1F)
   04725 Cholinergic synapse
    778 (CACNA1F)
   04726 Serotonergic synapse
    778 (CACNA1F)
   04723 Retrograde endocannabinoid signaling
    778 (CACNA1F)
 Human Diseases
  Neurodegenerative diseases
   05010 Alzheimer's disease
    778 (CACNA1F)
  Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    778 (CACNA1F)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    778 (CACNA1F)
   05414 Dilated cardiomyopathy (DCM)
    778 (CACNA1F)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN alpha-1, CaVx.x
   778 (CACNA1F)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
O60840(Tchem)
UniProt: 
Position
Xp11.23
AA seq 1977 aa AA seqDB search
MSESEGGKDTTPEPSPANGAGPGPEWGLCPGPPAVEGESSGASGLGTPKRRNQHSKHKTV
AVASAQRSPRALFCLTLANPLRRSCISIVEWKPFDILILLTIFANCVALGVYIPFPEDDS
NTANHNLEQVEYVFLVIFTVETVLKIVAYGLVLHPSAYIRNGWNLLDFIIVVVGLFSVLL
EQGPGRPGDAPHTGGKPGGFDVKALRAFRVLRPLRLVSGVPSLHIVLNSIMKALVPLLHI
ALLVLFVIIIYAIIGLELFLGRMHKTCYFLGSDMEAEEDPSPCASSGSGRACTLNQTECR
GRWPGPNGGITNFDNFFFAMLTVFQCVTMEGWTDVLYWMQDAMGYELPWVYFVSLVIFGS
FFVLNLVLGVLSGEFSKEREKAKARGDFQKQREKQQMEEDLRGYLDWITQAEELDMEDPS
ADDNLGSMAEEGRAGHRPQLAELTNRRRGRLRWFSHSTRSTHSTSSHASLPASDTGSMTE
TQGDEDEEEGALASCTRCLNKIMKTRVCRRLRRANRVLRARCRRAVKSNACYWAVLLLVF
LNTLTIASEHHGQPVWLTQIQEYANKVLLCLFTVEMLLKLYGLGPSAYVSSFFNRFDCFV
VCGGILETTLVEVGAMQPLGISVLRCVRLLRIFKVTRHWASLSNLVASLLNSMKSIASLL
LLLFLFIIIFSLLGMQLFGGKFNFDQTHTKRSTFDTFPQALLTVFQILTGEDWNVVMYDG
IMAYGGPFFPGMLVCIYFIILFICGNYILLNVFLAIAVDNLASGDAGTAKDKGGEKSNEK
DLPQENEGLVPGVEKEEEEGARREGADMEEEEEEEEEEEEEEEEEGAGGVELLQEVVPKE
KVVPIPEGSAFFCLSQTNPLRKGCHTLIHHHVFTNLILVFIILSSVSLAAEDPIRAHSFR
NHILGYFDYAFTSIFTVEILLKMTVFGAFLHRGSFCRSWFNMLDLLVVSVSLISFGIHSS
AISVVKILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIMIVTTLLQFMFACIGVQ
LFKGKFYTCTDEAKHTPQECKGSFLVYPDGDVSRPLVRERLWVNSDFNFDNVLSAMMALF
TVSTFEGWPALLYKAIDAYAEDHGPIYNYRVEISVFFIVYIIIIAFFMMNIFVGFVIITF
RAQGEQEYQNCELDKNQRQCVEYALKAQPLRRYIPKNPHQYRVWATVNSAAFEYLMFLLI
LLNTVALAMQHYEQTAPFNYAMDILNMVFTGLFTIEMVLKIIAFKPKHYFTDAWNTFDAL
IVVGSIVDIAVTEVNNGGHLGESSEDSSRISITFFRLFRVMRLVKLLSKGEGIRTLLWTF
IKSFQALPYVALLIAMIFFIYAVIGMQMFGKVALQDGTQINRNNNFQTFPQAVLLLFRCA
TGEAWQEIMLASLPGNRCDPESDFGPGEEFTCGSNFAIAYFISFFMLCAFLIINLFVAVI
MDNFDYLTRDWSILGPHHLDEFKRIWSEYDPGAKGRIKHLDVVALLRRIQPPLGFGKLCP
HRVACKRLVAMNMPLNSDGTVTFNATLFALVRTSLKIKTEGNLEQANQELRIVIKKIWKR
MKQKLLDEVIPPPDEEEVTVGKFYATFLIQDYFRKFRRRKEKGLLGNDAAPSTSSALQAG
LRSLQDLGPEMRQALTCDTEEEEEEGQEGVEEEDEKDLETNKATMVSQPSARRGSGISVS
LPVGDRLPDSLSFGPSDDDRGTPTSSQPSVPQAGSNTHRRGSGALIFTIPEEGNSQPKGT
KGQNKQDEDEEVPDRLSYLDEQAGTPPCSVLLPPHRAQRYMDGHLVPRRRLLPPTPAGRK
PSFTIQCLQRQGSCEDLPIPGTYHRGRNSGPNRAQGSWATPPQRGRLLYAPLLLVEEGAA
GEGYLGRSSGPLRTFTCLHVPGTHSDPSHGKRGSADSLVEAVLISEGLGLFARDPRFVAL
AKQEIADACRLTLDEMDNAASDLLAQGTSSLYSDEESILSRFDEEDLGDEMACVHAL
NT seq 5934 nt NT seq  +upstreamnt  +downstreamnt
atgtcggaatctgaaggcgggaaagacaccaccccagagcccagtccagccaatggggca
ggccctggtcccgaatgggggctgtgccccgggcccccagctgtggaaggtgaaagcagt
ggggcatcaggcctagggacccctaagcgaagaaaccagcacagcaagcacaagacagtg
gcagtggccagtgcccagcggtcacctcgggcactcttctgcctcaccctggccaatcct
ctgcgacggtcctgcatcagcatcgtggagtggaagcccttcgacatcctcatcctgctg
accatctttgccaactgcgtggccctgggagtttacatccccttccctgaggacgactcc
aacactgccaaccacaacctggagcaggtggagtacgtattcctggtgattttcactgtg
gagacggtgctcaagatcgtggcctacgggctggtgctccaccccagcgcctacatccgc
aatggctggaacctactcgacttcatcatcgtcgtggtcgggctgttcagcgttctgctg
gagcagggccccggacggccaggcgacgccccgcacaccgggggaaagccaggaggcttc
gatgtgaaggcattgagggcgtttcgggtgctgcggccactgaggctggtgtctggggtc
ccgagcctgcacatagtgctcaattccatcatgaaggctctggtgccgctgctgcacatt
gcactgctcgtgctcttcgtcatcatcatttatgccatcattgggctcgagctgttcctt
ggacgaatgcacaagacgtgctacttcctgggatccgacatggaagcggaggaggaccca
tcgccctgtgcgtcttcgggatcagggcgtgcgtgcacgctgaaccagactgagtgccgc
gggcgctggccagggcccaatggaggcatcaccaactttgacaacttcttcttcgccatg
ctgacagtcttccagtgtgtcaccatggaaggctggaccgatgtgctctactggatgcaa
gatgccatggggtatgaactgccctgggtgtactttgtgagccttgtcatctttgggtcc
ttcttcgtcctcaaccttgtgcttggcgtcctgagtggggagttctccaaggagagagag
aaagcgaaagctcgcggggacttccagaagcagcgggagaagcagcagatggaggaagac
ctgcggggctacctggactggatcactcaagccgaagagctggacatggaggacccctcc
gccgatgacaaccttggttctatggctgaagagggccgggcgggccatcggccacagctg
gccgagctgaccaataggaggcgtggacgtctgcgctggttcagtcattctactcgctcc
acacactccaccagcagccatgccagcctcccagccagtgacaccggttccatgacagag
acccaaggcgatgaggatgaggaggagggggctctggccagctgtacacgctgcctaaac
aagatcatgaaaaccagagtctgccgccgcctccgccgagccaaccgggtccttcgggca
cgctgccgtcgggcagtgaagtccaatgcctgctactgggctgtgctgttgctcgtcttc
ctcaacacgttgaccatcgcctctgagcaccacgggcagcctgtgtggctcacccagatc
caggagtatgccaacaaagtgttgctctgtctgttcacggtggagatgcttctcaaattg
tacggtctgggcccctctgcctatgtgtcttccttcttcaaccgctttgactgctttgtg
gtctgtgggggcatcctagagaccaccttggtggaggtgggtgccatgcagcccttgggc
atctcagtgctccgatgtgtgcgcctcctcaggatctttaaggtcaccagacactgggct
tctctgagcaatctggtggcatccctgctcaattcaatgaaatccatcgcatccttgctg
cttctcctcttcctcttcatcattatcttctccctgcttggcatgcagctgtttgggggc
aagttcaactttgaccagacccacaccaagcgaagcacctttgacacgttcccccaggcc
ctcctcactgtctttcagatcctgacaggtgaggactggaacgtggtcatgtatgatggt
atcatggcatatggtggccccttcttcccaggaatgttggtgtgcatctatttcatcatt
ctcttcatctgtggcaactacatcctgttgaacgtgtttcttgccattgctgtggacaac
ctggccagtggagatgcaggcactgccaaggacaagggcggggagaagagcaatgagaag
gatctcccacaggagaatgaaggcctggtgcctggtgtggagaaagaggaagaggagggt
gcaaggagggaaggagcagacatggaggaggaggaggaggaggaagaagaggaagaagag
gaagaagaggaagagggtgcagggggtgtggaactcctgcaggaagttgtacccaaggag
aaggtggtacccatccctgagggcagcgccttcttctgcctcagccaaaccaacccgctg
aggaagggctgccacaccctcatccaccatcatgtcttcaccaatcttatcctggtgttc
atcatcctcagcagtgtgtccctggccgctgaggaccccatccgagcccactccttccgc
aaccatattctgggttacttcgattatgccttcacctccattttcactgtggagattcta
ctaaagatgacagtgtttggggccttcctgcaccgcggctccttctgccgtagctggttt
aatatgttggatctgctggtggtcagtgtgtccctcatctcctttggcatccactccagc
gccatctcggtggtgaagattctgcgagtactccgagtactgcggcccctccgagccatc
aacagggccaagggactcaagcatgtggtgcagtgtgtatttgtggccatccggaccatc
ggaaacatcatgattgtcaccacacttctgcaatttatgttcgcctgcatcggggtgcag
ctcttcaaggggaaattctacacctgcacggacgaggccaaacacacccctcaagaatgc
aagggctccttcctggtatacccagatggagacgtgtcacggcccctggtccgggagcgg
ctctgggtcaacagtgatttcaactttgacaatgtcctttcagccatgatggccctgttc
actgtctccacctttgaaggctggcctgcactgctatacaaggccatcgatgcatatgca
gaggaccacggccccatctataattaccgtgtggagatctcagtgttcttcattgtctac
atcatcatcattgcgttcttcatgatgaacatcttcgtgggcttcgtcatcatcactttc
cgtgcccagggcgagcaggagtaccaaaactgtgagctggacaagaaccagcgtcaatgt
gtggaatatgccctcaaggcccagccactccgccgttacatccccaagaacccgcatcag
tatcgtgtgtgggccactgtgaactctgctgcctttgagtacctgatgttcctgctcatc
ctgctcaacacagttgccctagccatgcagcactatgagcagactgctcccttcaactat
gccatggacatcctcaacatggtcttcactggcctcttcactattgagatggtgctcaaa
atcatcgccttcaagcccaagcattacttcactgatgcctggaacacgtttgacgctctt
attgtggtgggcagcatagtggatattgccgtcactgaagtcaataatggtggccacctt
ggcgagagctctgaggacagctcccgcatttccattaccttctttcgcctcttccgagtt
atgcggctggtcaagcttctcagtaagggtgaagggatccgcacattgctctggacattc
atcaagtccttccaggccttgccctatgtggctcttctcatcgcaatgatattcttcatc
tatgccgtcattggcatgcagatgttcggcaaggtggctcttcaggatggcacacagata
aaccgaaacaacaacttccagacctttccacaggctgtgctgcttctgttcaggtgtgcc
actggtgaggcatggcaggagataatgcttgccagccttcccggaaatcggtgtgatcct
gagtctgacttcggccctggtgaagagtttacctgtggtagcaattttgccatcgcctat
ttcatcagcttcttcatgctctgtgccttcctgatcataaatctctttgtggctgtgatc
atggacaactttgattatctcaccagagattggtccatcctgggcccccatcaccttgat
gaattcaagaggatctggtctgaatatgaccctggggccaagggccgcatcaaacacttg
gatgtggttgccctgctgagacgtatccagccccctctgggatttgggaagctgtgccca
caccgagtggcctgcaagagacttgtggcaatgaacatgcccctcaactcagatgggacg
gtgacattcaacgccacactctttgccctggtccggacatccctgaagatcaaaacagaa
gggaacctggagcaagccaaccaggagctgcggattgtcatcaaaaagatctggaagcgg
atgaaacagaagctgctagatgaggtcatccccccaccagacgaggaggaggtcaccgtg
ggcaaattctacgccacatttctgatccaggactatttccgcaaattccggcggaggaaa
gaaaaagggctactaggcaacgacgccgcccctagcacctcttccgcccttcaggctggt
ctgcggagcctgcaggacttgggtcctgagatgcggcaggccctcacctgtgacacagag
gaggaggaagaagaggggcaggagggagtggaggaggaagatgaaaaggacttggaaact
aacaaagccacgatggtctcccagccctcagctcgccggggctccgggatttctgtgtct
ctgcctgtcggggacagacttccagattcactctcctttgggcccagtgatgatgacagg
gggactcccacctccagtcagcccagtgtgccccaggctggatccaacacccacaggaga
ggctctggggctctcattttcaccatcccagaagaaggaaattctcagcccaagggaacc
aaagggcaaaacaagcaagatgaggatgaggaagtccctgatcggctttcctacctagat
gagcaggcagggactcccccgtgctcagtccttttgccacctcacagagctcagagatac
atggatgggcacctggtaccacgccgccgtctgctgccccccacacctgcaggtcggaag
ccctccttcaccatccagtgtctgcagcgccagggcagttgtgaggatttacccatccca
ggcacctatcatcgtgggcgaaattcagggcccaatagggctcagggttcctgggcaaca
ccacctcagcggggtcggctcctgtatgccccgctgttgttggtggaagagggcgcagcg
ggggaggggtacctcggcagatccagtggcccactgcgcaccttcacctgtctgcacgtg
cctggaacccactcggaccccagccatgggaagaggggcagtgccgacagcttggtggag
gctgtgcttatctcagagggtctgggcctctttgctcgagacccacgtttcgtggccctg
gccaagcaggagattgcagatgcgtgtcgcctgacgctggatgagatggacaatgctgcc
agtgacctgctggcacagggaaccagctctctctatagcgacgaggagtccatcctctcc
cgcttcgatgaggaggacttgggagacgagatggcctgcgtccacgccctctga

KEGG   Homo sapiens (human): 779Help
Entry
779               CDS       T01001                                 

Gene name
CACNA1S, CACNL1A3, CCHL1A3, Cav1.1, HOKPP, HOKPP1, MHS5, TTPP1, hypoPP
Definition
(RefSeq) calcium voltage-gated channel subunit alpha1 S
  KO
K04857  
voltage-dependent calcium channel L type alpha-1S
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
Calcium signaling pathway
cGMP-PKG signaling pathway
cAMP signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Vascular smooth muscle contraction
Retrograde endocannabinoid signaling
Cholinergic synapse
Serotonergic synapse
GABAergic synapse
Insulin secretion
GnRH signaling pathway
Oxytocin signaling pathway
Renin secretion
Aldosterone synthesis and secretion
Alzheimer's disease
Hypertrophic cardiomyopathy (HCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Dilated cardiomyopathy (DCM)
Disease
H00215  
Periodic paralysis
H00746  
Hypokalemic periodic paralysis (HypoPP)
Drug target
Amlodipine (DG00322): 
Aranidipine: 
Azelnidipine: 
Barnidipine (DG00325): 
Benidipine (DG00327): 
Bepridil (DG00333): 
Bevantolol: 
Cilnidipine: 
Clevidipine: 
Diltiazem: 
Dronedarone (DG00207): 
Efonidipine (DG01382): 
Felodipine: 
Fendiline (DG00332): 
Fostedil: 
Gallopamil (DG00330): 
Isradipine: 
Lacidipine: 
Lercanidipine (DG00326): 
Manidipine (DG00324): 
Nicardipine (DG00323): 
Nifedipine: 
Nilvadipine: 
Nimodipine: 
Nisoldipine: 
Nitrendipine: 
Perhexiline (DG00334): 
Topiramate: 
Verapamil (DG00329): 
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    779 (CACNA1S)
   04020 Calcium signaling pathway
    779 (CACNA1S)
   04024 cAMP signaling pathway
    779 (CACNA1S)
   04022 cGMP - PKG signaling pathway
    779 (CACNA1S)
 Organismal Systems
  Endocrine system
   04911 Insulin secretion
    779 (CACNA1S)
   04912 GnRH signaling pathway
    779 (CACNA1S)
   04921 Oxytocin signaling pathway
    779 (CACNA1S)
   04924 Renin secretion
    779 (CACNA1S)
   04925 Aldosterone synthesis and secretion
    779 (CACNA1S)
  Circulatory system
   04260 Cardiac muscle contraction
    779 (CACNA1S)
   04261 Adrenergic signaling in cardiomyocytes
    779 (CACNA1S)
   04270 Vascular smooth muscle contraction
    779 (CACNA1S)
  Nervous system
   04727 GABAergic synapse
    779 (CACNA1S)
   04725 Cholinergic synapse
    779 (CACNA1S)
   04726 Serotonergic synapse
    779 (CACNA1S)
   04723 Retrograde endocannabinoid signaling
    779 (CACNA1S)
 Human Diseases
  Neurodegenerative diseases
   05010 Alzheimer's disease
    779 (CACNA1S)
  Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    779 (CACNA1S)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    779 (CACNA1S)
   05414 Dilated cardiomyopathy (DCM)
    779 (CACNA1S)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN alpha-1, CaVx.x
   779 (CACNA1S)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
Q13698(Tchem)
UniProt: 
Structure
PDB: 

Jmol
Position
1q32.1
AA seq 1873 aa AA seqDB search
MEPSSPQDEGLRKKQPKKPVPEILPRPPRALFCLTLENPLRKACISIVEWKPFETIILLT
IFANCVALAVYLPMPEDDNNSLNLGLEKLEYFFLIVFSIEAAMKIIAYGFLFHQDAYLRS
GWNVLDFTIVFLGVFTVILEQVNVIQSHTAPMSSKGAGLDVKALRAFRVLRPLRLVSGVP
SLQVVLNSIFKAMLPLFHIALLVLFMVIIYAIIGLELFKGKMHKTCYFIGTDIVATVENE
EPSPCARTGSGRRCTINGSECRGGWPGPNHGITHFDNFGFSMLTVYQCITMEGWTDVLYW
VNDAIGNEWPWIYFVTLILLGSFFILNLVLGVLSGEFTKEREKAKSRGTFQKLREKQQLD
EDLRGYMSWITQGEVMDVEDFREGKLSLDEGGSDTESLYEIAGLNKIIQFIRHWRQWNRI
FRWKCHDIVKSKVFYWLVILIVALNTLSIASEHHNQPLWLTRLQDIANRVLLSLFTTEML
MKMYGLGLRQYFMSIFNRFDCFVVCSGILEILLVESGAMTPLGISVLRCIRLLRIFKITK
YWTSLSNLVASLLNSIRSIASLLLLLFLFIVIFALLGMQLFGGRYDFEDTEVRRSNFDNF
PQALISVFQVLTGEDWTSMMYNGIMAYGGPSYPGMLVCIYFIILFVCGNYILLNVFLAIA
VDNLAEAESLTSAQKAKAEEKKRRKMSKGLPDKSEEEKSTMAKKLEQKPKGEGIPTTAKL
KIDEFESNVNEVKDPYPSADFPGDDEEDEPEIPLSPRPRPLAELQLKEKAVPIPEASSFF
IFSPTNKIRVLCHRIVNATWFTNFILLFILLSSAALAAEDPIRADSMRNQILKHFDIGFT
SVFTVEIVLKMTTYGAFLHKGSFCRNYFNMLDLLVVAVSLISMGLESSAISVVKILRVLR
VLRPLRAINRAKGLKHVVQCMFVAISTIGNIVLVTTLLQFMFACIGVQLFKGKFFRCTDL
SKMTEEECRGYYYVYKDGDPMQIELRHREWVHSDFHFDNVLSAMMSLFTVSTFEGWPQLL
YKAIDSNAEDVGPIYNNRVEMAIFFIIYIILIAFFMMNIFVGFVIVTFQEQGETEYKNCE
LDKNQRQCVQYALKARPLRCYIPKNPYQYQVWYIVTSSYFEYLMFALIMLNTICLGMQHY
NQSEQMNHISDILNVAFTIIFTLEMILKLMAFKARGYFGDPWNVFDFLIVIGSIIDVILS
EIDTFLASSGGLYCLGGGCGNVDPDESARISSAFFRLFRVMRLIKLLSRAEGVRTLLWTF
IKSFQALPYVALLIVMLFFIYAVIGMQMFGKIALVDGTQINRNNNFQTFPQAVLLLFRCA
TGEAWQEILLACSYGKLCDPESDYAPGEEYTCGTNFAYYYFISFYMLCAFLVINLFVAVI
MDNFDYLTRDWSILGPHHLDEFKAIWAEYDPEAKGRIKHLDVVTLLRRIQPPLGFGKFCP
HRVACKRLVGMNMPLNSDGTVTFNATLFALVRTALKIKTEGNFEQANEELRAIIKKIWKR
TSMKLLDQVIPPIGDDEVTVGKFYATFLIQEHFRKFMKRQEEYYGYRPKKDIVQIQAGLR
TIEEEAAPEICRTVSGDLAAEEELERAMVEAAMEEGIFRRTGGLFGQVDNFLERTNSLPP
VMANQRPLQFAEIEMEEMESPVFLEDFPQDPRTNPLARANTNNANANVAYGNSNHSNSHV
FSSVHYEREFPEETETPATRGRALGQPCRVLGPHSKPCVEMLKGLLTQRAMPRGQAPPAP
CQCPRVESSMPEDRKSSTPGSLHEETPHSRSTRENTSRCSAPATALLIQKALVRGGLGTL
AADANFIMATGQALADACQMEPEEVEIMATELLKGREAPEGMASSLGCLNLGSSLGSLDQ
HQGSQETLIPPRL
NT seq 5622 nt NT seq  +upstreamnt  +downstreamnt
atggagccatcctcaccccaggatgaaggcctgaggaagaaacagcccaagaagccagtt
cctgagattctgccaaggccaccccgggccttgttctgcctgaccctggagaaccccctg
aggaaggcctgcatcagcattgtagaatggaagcccttcgagacgatcatcttgctcacc
atctttgccaattgtgtggccctggccgtgtacctgcccatgccggaagatgacaacaac
tctctgaacctcggcctggagaagctggagtatttcttcctcattgtcttctcgattgaa
gccgccatgaagatcattgcctacggcttcttattccaccaggacgcttacctgcgcagt
ggctggaatgtgctggacttcaccattgtcttcctgggggtcttcaccgtgattctggaa
caggttaacgtcatccaaagccacacagccccaatgagcagcaaaggagccggcttggat
gtcaaggccctcagagccttccgagtgctcagacccctccggctggtgtcgggggtgcct
agcctgcaggtggtcctgaactccatcttcaaggccatgctccccctctttcacatcgcc
ctgctggtcctctttatggtcatcatctatgccatcatcgggctggagctcttcaagggc
aagatgcacaagacctgctacttcattggtacagatatcgtggccacggtggagaatgaa
gagccatcgccctgcgccaggacgggctcagggcgccggtgcaccatcaatggcagtgag
tgccggggcggctggccagggcccaaccatggcatcacccacttcgacaacttcggcttc
tccatgctcaccgtgtaccagtgcattaccatggagggatggactgacgtcctttactgg
gtcaatgatgccatcgggaatgagtggccctggatctattttgtcaccctcattttgctg
ggatccttcttcatcctcaacctggtgctgggtgtcctgagtggggaattcaccaaggag
cgggagaaggccaagtccaggggaaccttccagaagctccgggagaagcagcaactagat
gaggaccttcggggctacatgagctggatcacgcagggcgaggtcatggatgttgaggac
ttcagagaaggaaaactgtctttggatgaaggtggctctgacacagagagcctgtatgaa
attgcaggcttgaacaaaatcatccagttcatccgacattggaggcagtggaaccgcatc
tttcgctggaagtgccatgacatcgtgaagtccaaggtcttctattggctggtgattctc
atcgttgccctcaacaccctgtctatcgcctcagagcaccacaaccagcctctctggctg
acccgtttgcaagacattgccaaccgggtgctgctgtccctcttcaccactgagatgctg
atgaagatgtacgggctgggcctgcgccagtacttcatgtctatcttcaaccgcttcgac
tgcttcgtggtgtgtagcggtatcctggagatcctgctggtggagtcgggtgccatgaca
cccctgggcatctccgtgctccgctgcatccgcctcctgaggatcttcaagatcaccaaa
tattggacgtcgctgagcaacctggtggcatccctgctcaactccatccgctccatcgcc
tccctgctgctgctgctcttcctcttcatcgtcatcttcgccctcctgggcatgcagctc
tttggggggaggtatgactttgaagacacagaagtacggcgcagcaactttgacaacttt
ccccaagccctcatcagcgtcttccaggtactgacaggggaagactggacctcaatgatg
tacaatgggatcatggcctacggcgggccgtcctaccctggcatgcttgtgtgcatttac
ttcatcatccttttcgtctgtggcaactacatcctgctcaatgtcttcctggccattgcc
gtggacaacctggccgaggcggagagcctgacttctgcccagaaggccaaggctgaggag
aaaaaacgcaggaagatgtccaagggtctcccagacaagtcagaagaggagaagtcaacg
atggccaagaagctggagcagaaacccaagggtgagggcatccccaccactgccaagctg
aaaatcgatgagtttgaatctaatgtcaatgaggtgaaggatccctacccctcagccgac
ttcccaggggatgacgaggaagatgagcctgagatcccgctgagcccccgaccacgtccc
ctggctgagctgcagctgaaagagaaggccgtgcccattccagaagccagctccttcttc
atcttcagccccaccaataagatccgtgtcctgtgtcaccgcatcgtcaatgccacctgg
tttaccaacttcatcctgctcttcatcctgctcagcagcgctgcactggctgcggaagac
cccatccgggctgattccatgagaaatcagatccttaaacactttgacatcgggttcacc
tctgtcttcactgtggagattgtcctcaagatgacgacctacggagccttcctgcacaag
ggttccttctgccgcaattacttcaacatgctggacctgctggtggtggccgtgtccctc
atctccatgggacttgagtccagtgccatctccgtggtgaagatcctgagggtgctgagg
gtgctccgaccactcagagccatcaacagagccaaggggttgaagcacgtggtgcagtgc
atgttcgtggccatcagcaccatcgggaacatcgtgctggtcactaccctcctacagttc
atgtttgcctgcatcggcgtccagctcttcaaggggaagttcttcaggtgcaccgacttg
tccaagatgacagaggaggagtgcaggggctactactacgtgtacaaggacggggacccc
atgcagatagagctgcgtcaccgcgagtgggtacacagcgacttccacttcgacaatgtg
ctctcagccatgatgtccctcttcacggtctccaccttcgagggatggcctcagctgctg
tacaaggccatagactccaatgcggaggacgtgggtcccatctacaacaaccgtgtggag
atggccatcttcttcatcatctacatcatcctcattgccttcttcatgatgaacatcttt
gtgggcttcgtcattgtcaccttccaggagcagggagagactgagtacaagaactgtgag
ctggacaagaaccagcgccaatgtgtacagtatgccctgaaggcccgcccactgaggtgc
tacattcccaaaaacccataccagtaccaggtgtggtacattgtcacctcctcctacttt
gaatacctgatgtttgccctcatcatgctcaacaccatctgcctcggcatgcagcactac
aaccagtcggagcagatgaaccacatctcagacatcctcaatgtggccttcactatcatc
ttcaccctggagatgatcctcaagctcatggccttcaaggccaggggctactttggagac
ccctggaatgtgtttgacttcctgattgtcattggcagcatcattgatgtcatcctcagt
gagatcgacactttcctggcctccagcgggggactgtattgcctgggtggaggctgcggg
aacgttgacccagatgagagtgcccgcatctccagcgccttcttccgcctgttccgtgtc
atgaggctgatcaagctgctgagccgggcagaaggagtgcgaaccctcctgtggacgttc
atcaagtccttccaggccctaccctacgtggctctgctcatcgtcatgctcttcttcatc
tacgctgtcatcggcatgcagatgtttgggaagatcgccttggtggatgggacccaaata
aaccggaacaacaacttccagaccttcccacaagctgtgctactgctcttcaggtgtgca
acaggtgaggcctggcaggagatcctactggcctgcagctatgggaagctgtgtgaccca
gagtcggactatgccccaggggaggagtacacatgtggcaccaactttgcatactactac
ttcatcagcttctacatgctctgtgccttcctggtcatcaacctctttgtggctgtcatc
atggacaattttgactacctcacccgggactggtccatcctgggccctcatcacctggat
gagttcaaggccatctgggcagagtatgacccagaggctaaggggagaatcaaacacctg
gacgtggtgaccctgctgagaaggattcagccccctctgggctttgggaagttctgccca
catcgggtagcttgtaagcggctggtgggcatgaacatgcccctgaacagcgacggcaca
gtcaccttcaatgccacactctttgccctggtccgcacggcactcaagatcaagacggaa
ggtaactttgagcaggccaacgaggagctgagggccatcatcaagaagatctggaagaga
accagcatgaagctcttggaccaggtcatccctccaataggagatgatgaggtgacagtg
gggaagttctacgccacattcctcatccaggagcacttccggaagttcatgaaacgccaa
gaggagtattatggctatcggcccaagaaggacattgtacagatccaggcagggctgcgg
accattgaggaagaggcagcccccgagatctgtcgcacggtctcaggagacctggctgct
gaggaggagctggagagagccatggtggaggctgcgatggaggagggaatattccggagg
actggaggcctgtttggccaggtggacaacttcctggaaaggaccaactccctgcccccc
gtcatggccaatcagagacccctccagtttgctgagatagagatggaagagatggagtca
cctgtcttcttggaggacttcccacaagatccacgcaccaaccccctggctcgtgccaat
accaacaatgccaacgccaatgtcgcctatggcaacagcaaccatagcaacagccatgtg
ttttccagtgtccactatgaaagggagttcccagaagagacagagacgcctgctaccaga
ggacgagcccttggccaaccctgcagggtcctgggaccccacagcaaaccctgtgtggag
atgctgaagggactgctgacccagagggcaatgcccagaggccaggcacctcctgccccc
tgccagtgccccagggtggagtcctccatgcctgaggacagaaagagctccacaccaggg
tctcttcatgaggagacaccccacagcaggagcaccagggagaatacttccaggtgctca
gcaccagctacagccctgctgatccaaaaggctctggttcgagggggcctgggcaccttg
gcagctgatgcaaacttcatcatggcaacaggccaggccctggcagatgcctgccaaatg
gaaccagaggaagtggagatcatggcaacagagctactgaaaggacgagaggccccagag
ggcatggccagctccctgggatgcctgaacctcgggtcctccctgggcagcctcgaccaa
caccagggctcccaggagacccttattcctccaaggctgtga

KEGG   Homo sapiens (human): 781Help
Entry
781               CDS       T01001                                 

Gene name
CACNA2D1, CACNA2, CACNL2A, CCHL2A, LINC01112, lncRNA-N3, MHS3
Definition
(RefSeq) calcium voltage-gated channel auxiliary subunit alpha2delta 1
  KO
K04858  
voltage-dependent calcium channel alpha-2/delta-1
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Oxytocin signaling pathway
Hypertrophic cardiomyopathy (HCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Dilated cardiomyopathy (DCM)
Drug target
Gabapentin: 
Gabapentin (DG01245): 
Pregabalin: 
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    781 (CACNA2D1)
 Organismal Systems
  Endocrine system
   04921 Oxytocin signaling pathway
    781 (CACNA2D1)
  Circulatory system
   04260 Cardiac muscle contraction
    781 (CACNA2D1)
   04261 Adrenergic signaling in cardiomyocytes
    781 (CACNA2D1)
 Human Diseases
  Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    781 (CACNA2D1)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    781 (CACNA2D1)
   05414 Dilated cardiomyopathy (DCM)
    781 (CACNA2D1)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN alpha-2 delta
   781 (CACNA2D1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
P54289(Tclin)
UniProt: 
Position
7q21.11
AA seq 1091 aa AA seqDB search
MAAGCLLALTLTLFQSLLIGPSSEEPFPSAVTIKSWVDKMQEDLVTLAKTASGVNQLVDI
YEKYQDLYTVEPNNARQLVEIAARDIEKLLSNRSKALVRLALEAEKVQAAHQWREDFASN
EVVYYNAKDDLDPEKNDSEPGSQRIKPVFIEDANFGRQISYQHAAVHIPTDIYEGSTIVL
NELNWTSALDEVFKKNREEDPSLLWQVFGSATGLARYYPASPWVDNSRTPNKIDLYDVRR
RPWYIQGAASPKDMLILVDVSGSVSGLTLKLIRTSVSEMLETLSDDDFVNVASFNSNAQD
VSCFQHLVQANVRNKKVLKDAVNNITAKGITDYKKGFSFAFEQLLNYNVSRANCNKIIML
FTDGGEERAQEIFNKYNKDKKVRVFTFSVGQHNYDRGPIQWMACENKGYYYEIPSIGAIR
INTQEYLDVLGRPMVLAGDKAKQVQWTNVYLDALELGLVITGTLPVFNITGQFENKTNLK
NQLILGVMGVDVSLEDIKRLTPRFTLCPNGYYFAIDPNGYVLLHPNLQPKNPKSQEPVTL
DFLDAELENDIKVEIRNKMIDGESGEKTFRTLVKSQDERYIDKGNRTYTWTPVNGTDYSL
ALVLPTYSFYYIKAKLEETITQARSKKGKMKDSETLKPDNFEESGYTFIAPRDYCNDLKI
SDNNTEFLLNFNEFIDRKTPNNPSCNADLINRVLLDAGFTNELVQNYWSKQKNIKGVKAR
FVVTDGGITRVYPKEAGENWQENPETYEDSFYKRSLDNDNYVFTAPYFNKSGPGAYESGI
MVSKAVEIYIQGKLLKPAVVGIKIDVNSWIENFTKTSIRDPCAGPVCDCKRNSDVMDCVI
LDDGGFLLMANHDDYTNQIGRFFGEIDPSLMRHLVNISVYAFNKSYDYQSVCEPGAAPKQ
GAGHRSAYVPSVADILQIGWWATAAAWSILQQFLLSLTFPRLLEAVEMEDDDFTASLSKQ
SCITEQTQYFFDNDSKSFSGVLDCGNCSRIFHGEKLMNTNLIFIMVESKGTCPCDTRLLI
QAEQTSDGPNPCDMVKQPRYRKGPDVCFDNNVLEDYTDCGGVSGLNPSLWYIIGIQFLLL
WLVSGSTHRLL
NT seq 3276 nt NT seq  +upstreamnt  +downstreamnt
atggctgctggctgcctgctggccttgactctgacacttttccaatctttgctcatcggc
ccctcgtcggaggagccgttcccttcggccgtcactatcaaatcatgggtggataagatg
caagaagaccttgtcacactggcaaaaacagcaagtggagtcaatcagcttgttgatatt
tatgagaaatatcaagatttgtatactgtggaaccaaataatgcacgccagctggtagaa
attgcagccagggatattgagaaacttctgagcaacagatctaaagccctggtgcgcctg
gcattggaagcggagaaagttcaagcagctcaccagtggagagaagattttgcaagcaat
gaagttgtctactacaatgcaaaggatgatctcgatcctgagaaaaatgacagtgagcca
ggcagccagaggataaaacctgttttcattgaagatgctaattttggacgacaaatatct
tatcagcacgcagcagtccatattcctactgacatctatgagggctcaacaattgtgtta
aatgaactcaactggacaagtgccttagatgaagttttcaaaaagaatcgcgaggaagac
ccttcattattgtggcaggtttttggcagtgccactggcctagctcgatattatccagct
tcaccatgggttgataatagtagaactccaaataagattgacctttatgatgtacgcaga
agaccatggtacatccaaggagctgcatctcctaaagacatgcttattctggtggatgtg
agtggaagtgttagtggattgacacttaaactgatccgaacatctgtctccgaaatgtta
gaaaccctctcagatgatgatttcgtgaatgtagcttcatttaacagcaatgctcaggat
gtaagctgttttcagcaccttgtccaagcaaatgtaagaaataaaaaagtgttgaaagac
gcggtgaataatatcacagccaaaggaattacagattataagaagggctttagttttgct
tttgaacagctgcttaattataatgtttccagagcaaactgcaataagattattatgcta
ttcacggatggaggagaagagagagcccaggagatatttaacaaatacaataaagataaa
aaagtacgtgtattcacgttttcagttggtcaacacaattatgacagaggacctattcag
tggatggcctgtgaaaacaaaggttattattatgaaattccttccattggtgcaataaga
atcaatactcaggaatatttggatgttttgggaagaccaatggttttagcaggagacaaa
gctaagcaagtccaatggacaaatgtgtacctggatgcattggaactgggacttgtcatt
actggaactcttccggtcttcaacataaccggccaatttgaaaataagacaaacttaaag
aaccagctgattcttggtgtgatgggagtagatgtgtctttggaagatattaaaagactg
acaccacgttttacactgtgccccaatgggtattactttgcaatcgatcctaatggttat
gttttattacatccaaatcttcagccaaagaaccccaaatctcaggagccagtaacattg
gatttccttgatgcagagttagagaatgatattaaagtggagattcgaaataagatgatt
gatggggaaagtggagaaaaaacattcagaactctggttaaatctcaagatgagagatat
attgacaaaggaaacaggacatacacatggacacctgtcaatggcacagattacagtttg
gccttggtattaccaacctacagtttttactatataaaagccaaactagaagagacaata
actcaggccagatcaaaaaagggcaaaatgaaggattcggaaaccctgaagccagataat
tttgaagaatctggctatacattcatagcaccaagagattactgcaatgacctgaaaata
tcggataataacactgaatttcttttaaatttcaacgagtttattgatagaaaaactcca
aacaacccatcatgtaacgcggatttgattaatagagtcttgcttgatgcaggctttaca
aatgaacttgtccaaaattactggagtaagcagaaaaatatcaagggagtgaaagcacga
tttgttgtgactgatggtgggattaccagagtttatcccaaagaggctggagaaaattgg
caagaaaacccagagacatatgaggacagcttctataaaaggagcctagataatgataac
tatgttttcactgctccctactttaacaaaagtggacctggtgcctatgaatcgggcatt
atggtaagcaaagctgtagaaatatatattcaagggaaacttcttaaacctgcagttgtt
ggaattaaaattgatgtaaattcctggatagagaatttcaccaaaacctcaatcagagat
ccgtgtgctggtccagtttgtgactgcaaaagaaacagtgacgtaatggattgtgtgatt
ctggatgatggtgggtttcttctgatggcaaatcatgatgattatactaatcagattgga
agattttttggagagattgatcccagcttgatgagacacctggttaatatatcagtttat
gcttttaacaaatcttatgattatcagtcagtatgtgagcccggtgctgcaccaaaacaa
ggagcaggacatcgctcagcatatgtgccatcagtagcagacatattacaaattggctgg
tgggccactgctgctgcctggtctattctacagcagtttctcttgagtttgacctttcca
cgactccttgaggcagttgagatggaggatgatgacttcacggcctccctgtccaagcag
agctgcattactgaacaaacccagtatttcttcgataacgacagtaaatcattcagtggt
gtattagactgtggaaactgttccagaatctttcatggagaaaagcttatgaacaccaac
ttaatattcataatggttgagagcaaagggacatgtccatgtgacacacgactgctcata
caagcggagcagacttctgacggtccaaatccttgtgacatggttaagcaacccagatac
cgaaaagggcctgatgtctgctttgataacaatgtcttggaggattatactgactgtggt
ggtgtttctggattaaatccctccctgtggtatatcattggaatccagtttctactactt
tggctggtatctggcagcacacaccgcctgttatga

KEGG   Homo sapiens (human): 782Help
Entry
782               CDS       T01001                                 

Gene name
CACNB1, CAB1, CACNLB1, CCHLB1
Definition
(RefSeq) calcium voltage-gated channel auxiliary subunit beta 1
  KO
K04862  
voltage-dependent calcium channel beta-1
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Oxytocin signaling pathway
Hypertrophic cardiomyopathy (HCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Dilated cardiomyopathy (DCM)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    782 (CACNB1)
 Organismal Systems
  Endocrine system
   04921 Oxytocin signaling pathway
    782 (CACNB1)
  Circulatory system
   04260 Cardiac muscle contraction
    782 (CACNB1)
   04261 Adrenergic signaling in cardiomyocytes
    782 (CACNB1)
 Human Diseases
  Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    782 (CACNB1)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    782 (CACNB1)
   05414 Dilated cardiomyopathy (DCM)
    782 (CACNB1)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN beta
   782 (CACNB1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
Q02641(Tdark)
UniProt: 
Position
17q12
AA seq 598 aa AA seqDB search
MVQKTSMSRGPYPPSQEIPMEVFDPSPQGKYSKRKGRFKRSDGSTSSDTTSNSFVRQGSA
ESYTSRPSDSDVSLEEDREALRKEAERQALAQLEKAKTKPVAFAVRTNVGYNPSPGDEVP
VQGVAITFEPKDFLHIKEKYNNDWWIGRLVKEGCEVGFIPSPVKLDSLRLLQEQKLRQNR
LGSSKSGDNSSSSLGDVVTGTRRPTPPASAKQKQKSTEHVPPYDVVPSMRPIILVGPSLK
GYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKHIIIERSNTRSSLA
EVQSEIERIFELARTLQLVALDADTINHPAQLSKTSLAPIIVYIKITSPKVLQRLIKSRG
KSQSKHLNVQIAASEKLAQCPPEMFDIILDENQLEDACEHLAEYLEAYWKATHPPSSTPP
NPLLNRTMATAALAASPAPVSNLQGPYLASGDQPLERATGEHASMHEYPGELGQPPGLYP
SSHPPGRAGTLRALSRQDTFDADTPGSRNSAYTELGDSCVDMETDPSEGPGLGDPAGGGT
PPARQGSWEDEEEDYEEELTDNRNRGRNKARYCAEGGGPVLGRNKNELEGWGRGVYIR
NT seq 1797 nt NT seq  +upstreamnt  +downstreamnt
atggtccagaagaccagcatgtcccggggcccttacccaccctcccaggagatccccatg
gaggtcttcgaccccagcccgcagggcaaatacagcaagaggaaagggcgattcaaacgg
tcagatgggagcacgtcctcggataccacatccaacagctttgtccgccagggctcagcg
gagtcctacaccagccgtccatcagactctgatgtatctctggaggaggaccgggaagcc
ttaaggaaggaagcagagcgccaggcattagcgcagctcgagaaggccaagaccaagcca
gtggcatttgctgtgcggacaaatgttggctacaatccgtctccaggggatgaggtgcct
gtgcagggagtggccatcaccttcgagcccaaagacttcctgcacatcaaggagaaatac
aataatgactggtggatcgggcggctggtgaaggagggctgtgaggttggcttcattccc
agccccgtcaaactggacagccttcgcctgctgcaggaacagaagctgcgccagaaccgc
ctcggctccagcaaatcaggcgataactccagttccagtctgggagatgtggtgactggc
acccgccgccccacaccccctgccagtgccaaacagaagcagaagtcgacagagcatgtg
cccccctatgacgtggtgccttccatgaggcccatcatcctggtgggaccgtcgctcaag
ggctacgaggttacagacatgatgcagaaagctttatttgacttcttgaagcatcggttt
gatggcaggatctccatcactcgtgtgacggcagatatttccctggctaagcgctcagtt
ctcaacaaccccagcaaacacatcatcattgagcgctccaacacacgctccagcctggct
gaggtgcagagtgaaatcgagcgaatcttcgagctggcccggacccttcagttggtcgct
ctggatgctgacaccatcaatcacccagcccagctgtccaagacctcgctggcccccatc
attgtttacatcaagatcacctctcccaaggtacttcaaaggctcatcaagtcccgagga
aagtctcagtccaaacacctcaatgtccaaatagcggcctcggaaaagctggcacagtgc
ccccctgaaatgtttgacatcatcctggatgagaaccaattggaggatgcctgcgagcat
ctggcggagtacttggaagcctattggaaggccacacacccgcccagcagcacgccaccc
aatccgctgctgaaccgcaccatggctaccgcagccctggctgccagccctgcccctgtc
tccaacctccagggaccctaccttgcttccggggaccagccactggaacgggccaccggg
gagcacgccagcatgcacgagtacccaggggagctgggccagcccccaggcctttacccc
agcagccacccaccaggccgggcaggcacgctacgggcactgtcccgccaagacactttt
gatgccgacacccccggcagccgaaactctgcctacacggagctgggagactcatgtgtg
gacatggagactgacccctcagaggggccagggcttggagaccctgcagggggcggcacg
cccccagcccgacagggatcctgggaggacgaggaagaagactatgaggaagagctgacc
gacaaccggaaccggggccggaataaggcccgctactgcgctgagggtgggggtccagtt
ttggggcgcaacaagaatgagctggagggctggggacgaggcgtctacattcgctga

KEGG   Homo sapiens (human): 783Help
Entry
783               CDS       T01001                                 

Gene name
CACNB2, CACNLB2, CAVB2, MYSB
Definition
(RefSeq) calcium voltage-gated channel auxiliary subunit beta 2
  KO
K04863  
voltage-dependent calcium channel beta-2
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Oxytocin signaling pathway
Hypertrophic cardiomyopathy (HCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Dilated cardiomyopathy (DCM)
Disease
H00728  
Brugada syndrome (BRS)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    783 (CACNB2)
 Organismal Systems
  Endocrine system
   04921 Oxytocin signaling pathway
    783 (CACNB2)
  Circulatory system
   04260 Cardiac muscle contraction
    783 (CACNB2)
   04261 Adrenergic signaling in cardiomyocytes
    783 (CACNB2)
 Human Diseases
  Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    783 (CACNB2)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    783 (CACNB2)
   05414 Dilated cardiomyopathy (DCM)
    783 (CACNB2)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN beta
   783 (CACNB2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
Q08289(Tbio)
UniProt: 
Position
10p12.33-p12.31
AA seq 660 aa AA seqDB search
MVQRDMSKSPPTAAAAVAQEIQMELLENVAPAGALGAAAQSYGKGARRKNRFKGSDGSTS
SDTTSNSFVRQGSADSYTSRPSDSDVSLEEDREAVRREAERQAQAQLEKAKTKPVAFAVR
TNVSYSAAHEDDVPVPGMAISFEAKDFLHVKEKFNNDWWIGRLVKEGCEIGFIPSPVKLE
NMRLQHEQRAKQGKFYSSKSGGNSSSSLGDIVPSSRKSTPPSSAIDIDATGLDAEENDIP
ANHRSPKPSANSVTSPHSKEKRMPFFKKTEHTPPYDVVPSMRPVVLVGPSLKGYEVTDMM
QKALFDFLKHRFEGRISITRVTADISLAKRSVLNNPSKHAIIERSNTRSSLAEVQSEIER
IFELARTLQLVVLDADTINHPAQLSKTSLAPIIVYVKISSPKVLQRLIKSRGKSQAKHLN
VQMVAADKLAQCPPELFDVILDENQLEDACEHLADYLEAYWKATHPPSSSLPNPLLSRTL
ATSSLPLSPTLASNSQGSQGDQRTDRSAPIRSASQAEEEPSVEPVKKSQHRSSSSAPHHN
HRSGTSRGLSRQETFDSETQESRDSAYVEPKEDYSHDHVDHYASHRDHNHRDETHGSSDH
RHRESRHRSRDVDREQDHNECNKQRSRHKSKDRYCEKDGEVISKKRNEAGEWNRDVYIRQ
NT seq 1983 nt NT seq  +upstreamnt  +downstreamnt
atggtccaaagggacatgtccaagtcgcctcccacagcggcggcggcggtggcgcaggag
atccagatggaactgctagagaacgtggctcccgcgggggcgctcggagccgccgcacag
tcatatggaaaaggagccagaaggaaaaacagatttaaaggatctgatggaagcacgtca
tctgatactacctcaaatagttttgttcgccagggttcggcagactcctacactagccgt
ccatccgattccgatgtatctctggaggaggaccgggaggcagtgcgcagagaagcggag
cggcaggcccaggcacagttggaaaaagcaaagacaaagcccgttgcatttgcggttcgg
acaaatgtcagctacagtgcggcccatgaagatgatgttccagtgcctggcatggccatc
tcattcgaagcaaaagattttctgcatgttaaggaaaaatttaacaatgactggtggata
gggcgattggtaaaagaaggctgtgaaatcggattcattccaagcccagtcaaactagaa
aacatgaggctgcagcatgaacagagagccaagcaagggaaattctactccagtaaatca
ggaggaaattcatcatccagtttgggtgacatagtacctagttccagaaaatcaacacct
ccatcatctgctatagacatagatgctactggcttagatgcagaagaaaatgatattcca
gcaaaccaccgctcccctaaacccagtgcaaacagtgtaacgtcaccccactccaaagag
aaaagaatgcccttctttaagaagacagagcacactcctccgtatgatgtggtaccttcc
atgcgaccagtggtcctagtgggcccttctctgaagggctacgaggtcacagatatgatg
caaaaagcgctgtttgattttttaaaacacagatttgaagggcggatatccatcacaagg
gtcaccgctgacatctcgcttgccaaacgctcggtattaaacaatcccagtaagcacgca
ataatagaaagatccaacacaaggtcaagcttagcggaagttcagagtgaaatcgaaagg
atttttgaacttgcaagaacattgcagttggtggtccttgacgcggatacaattaatcat
ccagctcaactcagtaaaacctccttggcccctattatagtatatgtaaagatttcttct
cctaaggttttacaaaggttaataaaatctcgagggaaatctcaagctaaacacctcaac
gtccagatggtagcagctgataaactggctcagtgtcctccagagctgttcgatgtgatc
ttggatgagaaccagcttgaggatgcctgtgagcaccttgccgactatctggaggcctac
tggaaggccacccatcctcccagcagtagcctccccaaccctctccttagccgtacatta
gccacttcaagtctgcctcttagccccaccctagcctctaattcacagggttctcaaggt
gatcagaggactgatcgctccgctcctatccgttctgcttcccaagctgaagaagaacct
agtgtggaaccagtcaagaaatcccagcaccgctcttcctcctcagccccacaccacaac
catcgcagtgggacaagtcgcggcctctccaggcaagagacatttgactcggaaacccag
gagagtcgagactctgcctacgtagagccaaaggaagattattcccatgaccacgtggac
cactatgcctcacaccgtgaccacaaccacagagacgagacccacgggagcagtgaccac
agacacagggagtcccggcaccgttcccgggacgtggatcgagagcaggaccacaacgag
tgcaacaagcagcgcagccgtcataaatccaaggatcgctactgtgaaaaggatggagaa
gtgatatcaaaaaaacggaatgaggctggggagtggaacagggatgtttacatccgccaa
tga

KEGG   Homo sapiens (human): 784Help
Entry
784               CDS       T01001                                 

Gene name
CACNB3, CAB3, CACNLB3
Definition
(RefSeq) calcium voltage-gated channel auxiliary subunit beta 3
  KO
K04864  
voltage-dependent calcium channel beta-3
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Oxytocin signaling pathway
Hypertrophic cardiomyopathy (HCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Dilated cardiomyopathy (DCM)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    784 (CACNB3)
 Organismal Systems
  Endocrine system
   04921 Oxytocin signaling pathway
    784 (CACNB3)
  Circulatory system
   04260 Cardiac muscle contraction
    784 (CACNB3)
   04261 Adrenergic signaling in cardiomyocytes
    784 (CACNB3)
 Human Diseases
  Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    784 (CACNB3)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    784 (CACNB3)
   05414 Dilated cardiomyopathy (DCM)
    784 (CACNB3)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN beta
   784 (CACNB3)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
P54284(Tbio)
UniProt: 
Position
12q13.12
AA seq 484 aa AA seqDB search
MYDDSYVPGFEDSEAGSADSYTSRPSLDSDVSLEEDRESARREVESQAQQQLERAKHKPV
AFAVRTNVSYCGVLDEECPVQGSGVNFEAKDFLHIKEKYSNDWWIGRLVKEGGDIAFIPS
PQRLESIRLKQEQKARRSGNPSSLSDIGNRRSPPPSLAKQKQKQAEHVPPYDVVPSMRPV
VLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADLSLAKRSVLNNPGKRTIIER
SSARSSIAEVQSEIERIFELAKSLQLVVLDADTINHPAQLAKTSLAPIIVFVKVSSPKVL
QRLIRSRGKSQMKHLTVQMMAYDKLVQCPPESFDVILDENQLEDACEHLAEYLEVYWRAT
HHPAPGPGLLGPPSAIPGLQNQQLLGERGEEHSPLERDSLMPSDEASESSRQAWTGSSQR
SSRHLEEDYADAYQDLYQPHRQHTSGLPSANGHDPQDRLLAQDSEHNHSDRNWQRNRPWP
KDSY
NT seq 1455 nt NT seq  +upstreamnt  +downstreamnt
atgtatgacgactcctacgtgcccgggtttgaggactcggaggcgggttcagccgactcc
tacaccagccgcccatctctggactcagacgtctccctggaggaggaccgggagagtgcc
cggcgtgaagtagagagccaggctcagcagcagctcgaaagggccaagcacaaacctgtg
gcatttgcggtgaggaccaatgtcagctactgtggcgtactggatgaggagtgcccagtc
cagggctctggagtcaactttgaggccaaagattttctgcacattaaagagaagtacagc
aatgactggtggatcgggcggctagtgaaagagggcggggacatcgccttcatccccagc
ccccagcgcctggagagcatccggctcaaacaggagcagaaggccaggagatctgggaac
ccttccagcctgagtgacattggcaaccgacgctcccctccgccatctctagccaagcag
aagcaaaagcaggcggaacatgttcccccatatgacgtggtgccctccatgcggcctgtg
gtgctggtgggaccctctctgaaaggttatgaggtcacagacatgatgcagaaggctctc
ttcgacttcctcaaacacagatttgatggcaggatctccatcacccgagtcacagccgac
ctctccctggcaaagcgatctgtgctcaacaatccgggcaagaggaccatcattgagcgc
tcctctgcccgctccagcattgcggaagtgcagagtgagatcgagcgcatatttgagctg
gccaaatccctgcagctagtagtgttggacgctgacaccatcaaccacccagcacagctg
gccaagacctcgctggcccccatcatcgtctttgtcaaagtgtcctcaccaaaggtactc
cagcgtctcattcgctcccgggggaagtcacagatgaagcacctgaccgtacagatgatg
gcatatgataagctggttcagtgcccaccggagtcatttgatgtgattctggatgagaac
cagctggaggatgcctgtgagcacctggctgagtacctggaggtttactggcgggccacg
caccacccagcccctggccccggacttctgggtcctcccagtgccatccccggacttcag
aaccagcagctgctgggggagcgtggcgaggagcactccccccttgagcgggacagcttg
atgccctctgatgaggccagcgagagctcccgccaagcctggacaggatcttcacagcgt
agctcccgccacctggaggaggactatgcagatgcctaccaggacctgtaccagcctcac
cgccaacacacctcggggctgcctagtgctaacgggcatgacccccaagaccggcttcta
gcccaggactcagagcacaaccacagtgaccggaactggcagcgcaaccggccttggccc
aaggatagctactga

KEGG   Homo sapiens (human): 785Help
Entry
785               CDS       T01001                                 

Gene name
CACNB4, CAB4, CACNLB4, EA5, EIG9, EJM, EJM4, EJM6
Definition
(RefSeq) calcium voltage-gated channel auxiliary subunit beta 4
  KO
K04865  
voltage-dependent calcium channel beta-4
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Oxytocin signaling pathway
Hypertrophic cardiomyopathy (HCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Dilated cardiomyopathy (DCM)
Disease
H00749  
Episodic ataxias
H00808  
Idiopathic generalized epilepsies (IGEs)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    785 (CACNB4)
 Organismal Systems
  Endocrine system
   04921 Oxytocin signaling pathway
    785 (CACNB4)
  Circulatory system
   04260 Cardiac muscle contraction
    785 (CACNB4)
   04261 Adrenergic signaling in cardiomyocytes
    785 (CACNB4)
 Human Diseases
  Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    785 (CACNB4)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    785 (CACNB4)
   05414 Dilated cardiomyopathy (DCM)
    785 (CACNB4)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN beta
   785 (CACNB4)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
O00305(Tbio)
UniProt: 
Structure
PDB: 

Jmol
Position
2q23.3
AA seq 520 aa AA seqDB search
MSSSSYAKNGTADGPHSPTSQVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPS
DSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISF
DAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNS
SSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQK
ALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIF
ELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQ
LVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGS
TALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQH
SRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL
NT seq 1563 nt NT seq  +upstreamnt  +downstreamnt
atgtcctcctcctcctacgccaagaacgggaccgcggacgggccgcactcccccacctcg
caggtggcccgaggcaccacaacccggaggagcaggttgaaaagatccgatggcagcacc
acttcgaccagcttcatcctcagacagggttcagcggattcctacacaagcaggccgtct
gactccgatgtctctttggaagaggaccgggaagcaattcgacaggagagagaacagcaa
gcagctatccagcttgagagagcaaagtccaaacctgtagcatttgccgtgaagacaaat
gtgagctactgcggcgccctggacgaggatgtgcctgttccaagcacagctatctccttt
gatgctaaagactttctacatattaaagagaaatataacaatgattggtggataggaagg
ctggtgaaagagggctgtgaaattggcttcattccaagtccactcagattggagaacata
cggatccagcaagaacaaaaaagaggacgttttcacggagggaaatcaagtggaaattct
tcttcaagtcttggagaaatggtatctgggacattccgagcaactcccacatcaacagca
aaacagaagcaaaaagtgacggagcacattcctccttacgatgttgtaccgtcaatgcgt
ccggtggtgttagtggggccgtcactgaaaggttacgaggtaacagacatgatgcagaaa
gccctctttgatttcctgaagcacaggtttgatgggaggatttcaataacgagagtgaca
gctgacatttctcttgctaagaggtctgtcctaaataatcccagcaagagagcaataatt
gaacgttcgaacacccggtccagcttagcggaagtacaaagtgaaattgaaagaatcttt
gagttggcaagatctttgcaactggttgttcttgatgcagacaccatcaatcacccagca
caacttataaagacttccttagcaccaattattgttcatgtaaaagtctcatctccaaag
gttttacagcggttgattaaatctagaggaaagtcacaaagtaaacacttgaatgttcaa
ctggtggcagctgataaacttgcacaatgccccccagaaatgtttgatgttatattggat
gaaaatcagcttgaggatgcatgtgaacatctaggggagtacctggaggcgtactggcgt
gccacccacacaaccagtagcacacccatgaccccgctgctgggaaggaatttgggctcc
acggcactctcaccatatcccacagcaatttctgggttacagagtcagcgaatgaggcac
agcaaccactccacagagaactctccaattgaaagacgaagtctaatgacctctgatgaa
aattatcacaatgaaagggctcggaagagtaggaaccgcttgtcttccagttctcagcat
agccgagatcattaccctcttgtggaagaagattaccctgactcataccaggacacttac
aaaccccataggaaccgaggatcacctgggggatatagccatgactcccgacataggctt
tga

KEGG   Homo sapiens (human): 786Help
Entry
786               CDS       T01001                                 

Gene name
CACNG1, CACNLG
Definition
(RefSeq) calcium voltage-gated channel auxiliary subunit gamma 1
  KO
K04866  
voltage-dependent calcium channel gamma-1
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Oxytocin signaling pathway
Hypertrophic cardiomyopathy (HCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Dilated cardiomyopathy (DCM)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    786 (CACNG1)
 Organismal Systems
  Endocrine system
   04921 Oxytocin signaling pathway
    786 (CACNG1)
  Circulatory system
   04260 Cardiac muscle contraction
    786 (CACNG1)
   04261 Adrenergic signaling in cardiomyocytes
    786 (CACNG1)
 Human Diseases
  Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    786 (CACNG1)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    786 (CACNG1)
   05414 Dilated cardiomyopathy (DCM)
    786 (CACNG1)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN gamma
   786 (CACNG1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
Q06432(Tbio)
UniProt: 
Position
17q24.2
AA seq 222 aa AA seqDB search
MSQTKMLKVRVTLFCILAGIVLAMTAVVTDHWAVLSPHMEHHNTTCEAAHFGLWRICTKR
IPMDDSKTCGPITLPGEKNCSYFRHFNPGESSEIFEFTTQKEYSISAAAIAIFSLGFIIL
GSLCVLLSLGKKRDYLLRPASMFYAFAGLCILVSVEVMRQSVKRMIDSEDTVWIEYYYSW
SFACACAAFILLFLGGLALLLFSLPRMPRNPWESCMDAEPEH
NT seq 669 nt NT seq  +upstreamnt  +downstreamnt
atgtcccagaccaaaatgctgaaggtccgcgtgaccctcttctgcatcctggcaggcatc
gtgctggccatgacagccgtggtaaccgaccactgggctgtgctgagcccccacatggag
caccacaacactacctgcgaggcggcccacttcggcctctggcggatttgtaccaagcgc
atccccatggacgacagcaagacctgcgggcccatcaccctgcccggggagaagaactgt
tcctacttcaggcattttaaccccggcgagagctcggagatcttcgaattcaccactcag
aaggagtacagcatctcggcagccgccatcgccatcttcagccttggcttcatcatcctg
ggcagcctctgtgtcctcctgtccctcgggaagaagagggactatctgctgcgacccgcg
tccatgttctatgcctttgcaggtctctgcatcctcgtctcggtggaggtcatgcggcag
tcggtgaagcgcatgattgacagtgaggacaccgtctggatcgagtactattactcctgg
tcctttgcctgcgcctgtgccgccttcatcctcctctttctcggcggtctcgccctcctg
ctgttctccctgcctcgaatgccccggaacccatgggagtcctgcatggatgctgagccc
gagcactaa

KEGG   Homo sapiens (human): 8911Help
Entry
8911              CDS       T01001                                 

Gene name
CACNA1I, Cav3.3, ca(v)3.3
Definition
(RefSeq) calcium voltage-gated channel subunit alpha1 I
  KO
K04856  
voltage-dependent calcium channel T type alpha-1I
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
Calcium signaling pathway
Circadian entrainment
Aldosterone synthesis and secretion
Drug target
Bepridil (DG00333): 
Ethosuximide: 
Flunarizine (DG01006): 
Mibefradil (DG00328): 
Penfluridol: 
Valproic acid (DG00849): 
Zonisamide: 
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    8911 (CACNA1I)
   04020 Calcium signaling pathway
    8911 (CACNA1I)
 Organismal Systems
  Endocrine system
   04925 Aldosterone synthesis and secretion
    8911 (CACNA1I)
  Environmental adaptation
   04713 Circadian entrainment
    8911 (CACNA1I)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN alpha-1, CaVx.x
   8911 (CACNA1I)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
Q9P0X4(Tclin)
UniProt: 
Position
22q13.1
AA seq 2223 aa AA seqDB search
MAESASPPSSSAAAPAAEPGVTTEQPGPRSPPSSPPGLEEPLDGADPHVPHPDLAPIAFF
CLRQTTSPRNWCIKMVCNPWFECVSMLVILLNCVTLGMYQPCDDMDCLSDRCKILQVFDD
FIFIFFAMEMVLKMVALGIFGKKCYLGDTWNRLDFFIVMAGMVEYSLDLQNINLSAIRTV
RVLRPLKAINRVPSMRILVNLLLDTLPMLGNVLLLCFFVFFIFGIIGVQLWAGLLRNRCF
LEENFTIQGDVALPPYYQPEEDDEMPFICSLSGDNGIMGCHEIPPLKEQGRECCLSKDDV
YDFGAGRQDLNASGLCVNWNRYYNVCRTGSANPHKGAINFDNIGYAWIVIFQVITLEGWV
EIMYYVMDAHSFYNFIYFILLIIVGSFFMINLCLVVIATQFSETKQREHRLMLEQRQRYL
SSSTVASYAEPGDCYEEIFQYVCHILRKAKRRALGLYQALQSRRQALGPEAPAPAKPGPH
AKEPRHYHGKTKGQGDEGRHLGSRHCQTLHGPASPGNDHSGRELCPQHSPLDATPHTLVQ
PIPATLASDPASCPCCQHEDGRRPSGLGSTDSGQEGSGSGSSAGGEDEADGDGARSSEDG
ASSELGKEEEEEEQADGAVWLCGDVWRETRAKLRGIVDSKYFNRGIMMAILVNTVSMGIE
HHEQPEELTNILEICNVVFTSMFALEMILKLAAFGLFDYLRNPYNIFDSIIVIISIWEIV
GQADGGLSVLRTFRLLRVLKLVRFMPALRRQLVVLMKTMDNVATFCMLLMLFIFIFSILG
MHIFGCKFSLRTDTGDTVPDRKNFDSLLWAIVTVFQILTQEDWNVVLYNGMASTSPWASL
YFVALMTFGNYVLFNLLVAILVEGFQAEGDANRSYSDEDQSSSNIEEFDKLQEGLDSSGD
PKLCPIPMTPNGHLDPSLPLGGHLGPAGAAGPAPRLSLQPDPMLVALGSRKSSVMSLGRM
SYDQRSLSSSRSSYYGPWGRSAAWASRRSSWNSLKHKPPSAEHESLLSAERGGGARVCEV
AADEGPPRAAPLHTPHAHHIHHGPHLAHRHRHHRRTLSLDNRDSVDLAELVPAVGAHPRA
AWRAAGPAPGHEDCNGRMPSIAKDVFTKMGDRGDRGEDEEEIDYTLCFRVRKMIDVYKPD
WCEVREDWSVYLFSPENRFRVLCQTIIAHKLFDYVVLAFIFLNCITIALERPQIEAGSTE
RIFLTVSNYIFTAIFVGEMTLKVVSLGLYFGEQAYLRSSWNVLDGFLVFVSIIDIVVSLA
SAGGAKILGVLRVLRLLRTLRPLRVISRAPGLKLVVETLISSLKPIGNIVLICCAFFIIF
GILGVQLFKGKFYHCLGVDTRNITNRSDCMAANYRWVHHKYNFDNLGQALMSLFVLASKD
GWVNIMYNGLDAVAVDQQPVTNHNPWMLLYFISFLLIVSFFVLNMFVGVVVENFHKCRQH
QEAEEARRREEKRLRRLEKKRRKAQRLPYYATYCHTRLLIHSMCTSHYLDIFITFIICLN
VVTMSLEHYNQPTSLETALKYCNYMFTTVFVLEAVLKLVAFGLRRFFKDRWNQLDLAIVL
LSVMGITLEEIEINAALPINPTIIRIMRVLRIARVLKLLKMATGMRALLDTVVQALPQVG
NLGLLFMLLFFIYAALGVELFGKLVCNDENPCEGMSRHATFENFGMAFLTLFQVSTGDNW
NGIMKDTLRDCTHDERSCLSSLQFVSPLYFVSFVLTAQFVLINVVVAVLMKHLDDSNKEA
QEDAEMDAELELEMAHGLGPGPRLPTGSPGAPGRGPGGAGGGGDTEGGLCRRCYSPAQEN
LWLDSVSLIIKDSLEGELTIIDNLSGSIFHHYSSPAGCKKCHHDKQEVQLAETEAFSLNS
DRSSSILLGDDLSLEDPTACPPGRKDSKGELDPPEPMRVGDLGECFFPLSSTAVSPDPEN
FLCEMEEIPFNPVRSWLKHDSSQAPPSPFSPDASSPLLPMPAEFFHPAVSASQKGPEKGT
GTGTLPKIALQGSWASLRSPRVNCTLLRQATGSDTSLDASPSSSAGSLQTTLEDSLTLSD
SPRRALGPPAPAPGPRAGLSPAARRRLSLRGRGLFSLRGLRAHQRSHSSGGSTSPGCTHH
DSMDPSDEEGRGGAGGGGAGSEHSETLSSLSLTSLFCPPPPPPAPGLTPARKFSSTSSLA
APGRPHAAALAHGLARSPSWAADRSKDPPGRAPLPMGLGPLAPPPQPLPGELEPGDAASK
RKR
NT seq 6672 nt NT seq  +upstreamnt  +downstreamnt
atggctgagagcgcctccccgccctcctcatctgcagcagccccagccgctgagccagga
gtcaccacggagcagcccggaccccggagccccccatcctccccgccaggcctggaggag
cctctggatggagctgatcctcatgtcccacacccagacctggcgcctattgccttcttc
tgcctgcgacagaccaccagcccccggaactggtgcatcaagatggtgtgcaacccgtgg
tttgaatgtgtcagcatgctggtgatcctgctgaactgcgtgacacttggcatgtaccag
ccgtgcgacgacatggactgcctgtccgaccgctgcaagatcctgcaggtctttgatgac
ttcatctttatcttctttgccatggagatggtgctcaagatggtggccctggggattttt
ggcaagaagtgctacctcggggacacatggaaccgcctggatttcttcatcgtcatggca
gggatggtcgagtactccctggaccttcagaacatcaacctgtcagccatccgcaccgtg
cgcgtcctgaggcccctcaaagccatcaaccgcgtgcccagtatgcggatcctggtgaac
ctgctcctggacacactgcccatgctggggaatgtcctgctgctctgcttctttgtcttc
ttcatctttggcatcataggtgtgcagctctgggcgggcctgctgcgtaaccgctgcttc
ctggaggagaacttcaccatacaaggggatgtggccttgcccccatactaccagccggag
gaggatgatgagatgcccttcatctgctccctgtcgggcgacaatgggataatgggctgc
catgagatccccccgctcaaggagcagggccgtgagtgctgcctgtccaaggacgacgtc
tacgactttggggcggggcgccaggacctcaatgccagcggcctctgtgtcaactggaac
cgttactacaatgtgtgccgcacgggcagcgccaacccccacaagggtgccatcaacttt
gacaacatcggttatgcttggattgtcatcttccaggtgatcactctggaaggctgggtg
gagatcatgtactacgtgatggatgctcactccttctacaacttcatctacttcatcctg
cttatcatagtgggctccttcttcatgatcaacctgtgcctcgttgtcatagcgacccag
ttctcggagaccaagcaacgggagcaccggctgatgctggagcagcggcagcgctacctg
tcctccagcacggtggccagctacgccgagcctggcgactgctacgaggagatcttccag
tatgtctgccacatcctgcgcaaggccaagcgccgcgccctgggcctctaccaggccctg
cagagccggcgccaggccctgggcccggaggccccggcccccgccaaacctgggccccac
gccaaggagccccggcactaccatgggaagactaagggtcagggagatgaagggagacat
ctcggaagccggcattgccagactttgcatgggcctgcctcccctggaaatgatcactcg
ggaagagagctgtgcccgcaacatagccccctggatgcgacgccccacaccctggtgcag
cccatccccgccacgctggcttccgatcccgccagctgcccttgctgccagcatgaggac
ggccggcggccctcgggcctgggcagcaccgactcgggccaggagggctcgggctccggg
agctccgctggtggcgaggacgaggcggatggggacggggcccggagcagcgaggacgga
gcctcctcagaactggggaaggaggaggaggaggaggagcaggcggatggggcggtctgg
ctgtgcggggatgtgtggcgggagacgcgagccaagctgcgcggcatcgtggacagcaag
tacttcaaccggggcatcatgatggccatcctggtcaacaccgtcagcatgggcatcgag
caccacgagcagccggaggagctgaccaacatcctggagatctgcaatgtggtcttcacc
agcatgtttgccctggagatgatcctgaagctggctgcatttgggctcttcgactacctg
cgtaacccctacaacatcttcgacagcatcattgtcatcatcagcatctgggagattgtg
gggcaggcggacggtgggctgtcggtgctgcggaccttccggctgctgcgcgtgctgaaa
ctggtgcgcttcatgcctgccctgcggcgccagctcgtggtgctcatgaagaccatggac
aacgtggccaccttctgcatgctgctcatgctcttcatcttcatcttcagcatccttggg
atgcatatttttggctgcaagttcagcctccgcacggacactggagacacggtgcccgac
aggaagaacttcgactccctgctgtgggccatcgtcactgtgttccagatcctcacccag
gaggactggaacgtcgttctctacaatggcatggcctccacttctccctgggcctccctc
tactttgtcgccctcatgaccttcggcaactatgtgctcttcaacctgctggtggccatc
ctggtggagggcttccaggcggagggtgacgccaatcgctcctactcggacgaggaccag
agctcatccaacatagaagagtttgataagctccaggaaggcctggacagcagcggagat
cccaagctctgcccaatccccatgacccccaatgggcacctggaccccagtctcccactg
ggtgggcacctaggtcctgctggggctgcgggacctgccccccgactctcactgcagccg
gaccccatgctggtggccctgggctcccgaaagagcagtgtcatgtctctagggaggatg
agctatgaccagcgctccctgtccagctcccggagctcctactacgggccatggggccgc
agcgcggcctgggccagccgtcgctccagctggaacagcctcaagcacaagccgccgtcg
gcggagcatgagtccctgctctctgcggagcgcggcggcggcgcccgggtctgcgaggtt
gccgcggacgaggggccgccgcgggccgcacccctgcacaccccacacgcccaccacatt
catcacgggccccatctggcgcaccgccaccgccaccaccgccggacgctgtccctcgac
aacagggactcggtggacctggccgagctggtgcccgcggtgggcgcccacccccgggcc
gcctggagggcggcaggcccggcccccgggcatgaggactgcaatggcaggatgcccagc
atcgccaaagacgtcttcaccaagatgggcgaccgcggggatcgcggggaggatgaggag
gaaatcgactacaccctgtgcttccgcgtccgcaagatgatcgacgtctataagcccgac
tggtgcgaggtccgcgaagactggtctgtctacctcttctctcccgagaacaggttccgg
gtcctgtgtcagaccattattgcccacaaactcttcgactacgtcgtcctggccttcatc
tttctcaactgcatcaccatcgccctggagcggcctcagatcgaggccggcagcaccgaa
cgcatctttctcaccgtgtccaactacatcttcacggccatcttcgtgggcgagatgaca
ttgaaggtagtctcgctgggcctgtacttcggcgagcaggcgtacctacgcagcagctgg
aacgtgctggatggctttcttgtcttcgtgtccatcatcgacatcgtggtgtccctggcc
tcagccgggggagccaagatcttgggggtcctccgagtcttgcggctcctgcgcacccta
cgccccctgcgtgtcatcagccgggcgccgggcctgaagctggtggtggagacactcatc
tcctccctcaagcccatcggcaacatcgtgctcatctgctgtgccttcttcatcatcttt
ggcatcctgggagtgcagctcttcaagggcaagttctaccactgtctgggcgtggacacc
cgcaacatcaccaaccgctcggactgcatggccgccaactaccgctgggtccatcacaaa
tacaacttcgacaacctgggccaggctctgatgtccctctttgtcctggcatccaaggat
ggttgggtgaacatcatgtacaatggactggatgctgttgctgtggaccagcagcctgtg
accaaccacaacccctggatgctgctgtacttcatctccttcctgctcatcgtcagcttc
tttgtgctcaacatgtttgtgggtgtcgtggtggagaacttccacaagtgccggcagcac
caggaggctgaagaggcacggcggcgtgaggagaagcggctgcggcgcctggagaagaag
cgccggaaggcccagcggctgccctactatgccacctattgtcacacccggctgctcatc
cactccatgtgcaccagccactacctggacatcttcatcaccttcatcatctgcctcaac
gtggtcaccatgtccctggagcactacaatcagcccacgtccctggagacagccctcaag
tactgcaactatatgttcaccactgtctttgtgctggaggctgtgctgaagctggtggca
tttggtctgaggcgcttcttcaaggaccgatggaaccagctggacctggccattgtgcta
ctgtcagtcatgggcatcaccctggaggagatcgagatcaatgcggccctgcccatcaat
cccaccatcatccgcatcatgagggttctgcgcattgcccgagtgctgaagctgttgaag
atggccacaggaatgcgggccctgctggacacggtggtgcaagctttgccccaggtgggc
aacctgggcctcctcttcatgctgctcttcttcatctatgctgctctcggggtggagctc
tttgggaagctggtctgcaacgacgagaacccgtgcgagggcatgagccggcatgccacc
ttcgagaacttcggcatggccttcctcacactcttccaggtctccacgggtgacaactgg
aacgggatcatgaaggacacgctgcgggactgcacccacgacgagcgcagctgcctgagc
agcctgcagtttgtgtcgccgctgtacttcgtgagcttcgtgctcaccgcgcagttcgtg
ctcatcaacgtggtggtggctgtgctcatgaagcacctggacgacagcaacaaggaggcg
caggaggacgccgagatggatgccgagctcgagctggagatggcccatggcctgggccct
ggcccgaggctgcctaccggctccccgggcgcccctggccgagggccgggaggggcgggc
ggcgggggcgacaccgagggcggcttgtgccggcgctgctactcgcctgcccaggagaac
ctgtggctggacagcgtctctttaatcatcaaggactccttggagggggagctgaccatc
atcgacaacctgtcgggctccatcttccaccactactcctcgcctgccggctgcaagaag
tgtcaccacgacaagcaagaggtgcagctggctgagacggaggccttctccctgaactca
gacaggtcctcgtccatcctgctgggtgacgacctgagtctcgaggaccccacagcctgc
ccacctggccgcaaagacagcaagggtgagctggacccacctgagcccatgcgtgtggga
gacctgggcgaatgcttcttccccttgtcctctacggccgtctcgccggatccagagaac
ttcctgtgtgagatggaggagatcccattcaaccctgtccggtcctggctgaaacatgac
agcagtcaagcacccccaagtcccttctccccggatgcctccagccctctcctgcccatg
ccagccgagttcttccaccctgcagtgtctgccagccagaaaggcccagaaaagggcact
ggcactggaaccctccccaagattgcgctgcagggctcctgggcatctctgcggtcacca
agggtcaactgtaccctcctccggcaggccaccgggagcgacacgtcgctggacgccagc
cccagcagctccgcgggcagcctgcagaccacgctcgaggacagcctgaccctgagcgac
agcccccggcgtgccctggggccgcccgcgcctgctccaggaccccgggccggcctgtcc
cccgccgctcgccgccgcctgagcctgcgcggccggggcctcttcagcctgcgggggctg
cgggcgcatcagcgcagccacagcagcgggggctccaccagcccgggctgcacccaccac
gactccatggacccctcggacgaggagggccgcggtggcgcgggcggcgggggcgcgggc
agcgagcactcggagaccctcagcagcctctcgctcacctccctcttctgcccgccgccc
ccgccgccagcccccggcctcacgcccgccaggaagttcagcagcaccagcagcctggcc
gcccccggccgcccccacgccgccgccctggcccacggcctggcccggagcccctcgtgg
gccgcggaccgcagcaaggacccccccggccgggcaccgctgcccatgggcctgggcccc
ttggcgcccccgccgcaaccgctccccggagagctggagccgggagacgccgccagcaag
aggaagagatga

KEGG   Homo sapiens (human): 8912Help
Entry
8912              CDS       T01001                                 

Gene name
CACNA1H, CACNA1HB, Cav3.2, ECA6, EIG6, HALD4
Definition
(RefSeq) calcium voltage-gated channel subunit alpha1 H
  KO
K04855  
voltage-dependent calcium channel T type alpha-1H
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
Calcium signaling pathway
Circadian entrainment
Aldosterone synthesis and secretion
Disease
H00808  
Idiopathic generalized epilepsies (IGEs)
Drug target
Bepridil (DG00333): 
Ethosuximide: 
Flunarizine (DG01006): 
Mibefradil (DG00328): 
Penfluridol: 
Valproic acid (DG00849): 
Zonisamide: 
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    8912 (CACNA1H)
   04020 Calcium signaling pathway
    8912 (CACNA1H)
 Organismal Systems
  Endocrine system
   04925 Aldosterone synthesis and secretion
    8912 (CACNA1H)
  Environmental adaptation
   04713 Circadian entrainment
    8912 (CACNA1H)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN alpha-1, CaVx.x
   8912 (CACNA1H)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
O95180(Tclin)
UniProt: 
Position
16p13.3
AA seq 2353 aa AA seqDB search
MTEGARAADEVRVPLGAPPPGPAALVGASPESPGAPGREAERGSELGVSPSESPAAERGA
ELGADEEQRVPYPALAATVFFCLGQTTRPRSWCLRLVCNPWFEHVSMLVIMLNCVTLGMF
RPCEDVECGSERCNILEAFDAFIFAFFAVEMVIKMVALGLFGQKCYLGDTWNRLDFFIVV
AGMMEYSLDGHNVSLSAIRTVRVLRPLRAINRVPSMRILVTLLLDTLPMLGNVLLLCFFV
FFIFGIVGVQLWAGLLRNRCFLDSAFVRNNNLTFLRPYYQTEEGEENPFICSSRRDNGMQ
KCSHIPGRRELRMPCTLGWEAYTQPQAEGVGAARNACINWNQYYNVCRSGDSNPHNGAIN
FDNIGYAWIAIFQVITLEGWVDIMYYVMDAHSFYNFIYFILLIIVGSFFMINLCLVVIAT
QFSETKQRESQLMREQRARHLSNDSTLASFSEPGSCYEELLKYVGHIFRKVKRRSLRLYA
RWQSRWRKKVDPSAVQGQGPGHRQRRAGRHTASVHHLVYHHHHHHHHHYHFSHGSPRRPG
PEPGACDTRLVRAGAPPSPPSPGRGPPDAESVHSIYHADCHIEGPQERARVAHAAATAAA
SLRLATGLGTMNYPTILPSGVGSGKGSTSPGPKGKWAGGPPGTGGHGPLSLNSPDPYEKI
PHVVGEHGLGQAPGHLSGLSVPCPLPSPPAGTLTCELKSCPYCTRALEDPEGELSGSESG
DSDGRGVYEFTQDVRHGDRWDPTRPPRATDTPGPGPGSPQRRAQQRAAPGEPGWMGRLWV
TFSGKLRRIVDSKYFSRGIMMAILVNTLSMGVEYHEQPEELTNALEISNIVFTSMFALEM
LLKLLACGPLGYIRNPYNIFDGIIVVISVWEIVGQADGGLSVLRTFRLLRVLKLVRFLPA
LRRQLVVLVKTMDNVATFCTLLMLFIFIFSILGMHLFGCKFSLKTDTGDTVPDRKNFDSL
LWAIVTVFQILTQEDWNVVLYNGMASTSSWAALYFVALMTFGNYVLFNLLVAILVEGFQA
EGDANRSDTDEDKTSVHFEEDFHKLRELQTTELKMCSLAVTPNGHLEGRGSLSPPLIMCT
AATPMPTPKSSPFLDAAPSLPDSRRGSSSSGDPPLGDQKPPASLRSSPCAPWGPSGAWSS
RRSSWSSLGRAPSLKRRGQCGERESLLSGEGKGSTDDEAEDGRAAPGPRATPLRRAESLD
PRPLRPAALPPTKCRDRDGQVVALPSDFFLRIDSHREDAAELDDDSEDSCCLRLHKVLEP
YKPQWCRSREAWALYLFSPQNRFRVSCQKVITHKMFDHVVLVFIFLNCVTIALERPDIDP
GSTERVFLSVSNYIFTAIFVAEMMVKVVALGLLSGEHAYLQSSWNLLDGLLVLVSLVDIV
VAMASAGGAKILGVLRVLRLLRTLRPLRVISRAPGLKLVVETLISSLRPIGNIVLICCAF
FIIFGILGVQLFKGKFYYCEGPDTRNISTKAQCRAAHYRWVRRKYNFDNLGQALMSLFVL
SSKDGWVNIMYDGLDAVGVDQQPVQNHNPWMLLYFISFLLIVSFFVLNMFVGVVVENFHK
CRQHQEAEEARRREEKRLRRLERRRRSTFPSPEAQRRPYYADYSPTRRSIHSLCTSHYLD
LFITFIICVNVITMSMEHYNQPKSLDEALKYCNYVFTIVFVFEAALKLVAFGFRRFFKDR
WNQLDLAIVLLSLMGITLEEIEMSAALPINPTIIRIMRVLRIARVLKLLKMATGMRALLD
TVVQALPQVGNLGLLFMLLFFIYAALGVELFGRLECSEDNPCEGLSRHATFSNFGMAFLT
LFRVSTGDNWNGIMKDTLRECSREDKHCLSYLPALSPVYFVTFVLVAQFVLVNVVVAVLM
KHLEESNKEAREDAELDAEIELEMAQGPGSARRVDADRPPLPQESPGARDAPNLVARKVS
VSRMLSLPNDSYMFRPVVPASAPHPRPLQEVEMETYGAGTPLGSVASVHSPPAESCASLQ
IPLAVSSPARSGEPLHALSPRGTARSPSLSRLLCRQEAVHTDSLEGKIDSPRDTLDPAEP
GEKTPVRPVTQGGSLQSPPRSPRPASVRTRKHTFGQRCVSSRPAAPGGEEAEASDPADEE
VSHITSSACPWQPTAEPHGPEASPVAGGERDLRRLYSVDAQGFLDKPGRADEQWRPSAEL
GSGEPGEAKAWGPEAEPALGARRKKKMSPPCISVEPPAEDEGSARPSAAEGGSTTLRRRT
PSCEATPHRDSLEPTEGSGAGGDPAAKGERWGQASCRAEHLTVPSFAFEPLDLGVPSGDP
FLDGSHSVTPESRASSSGAIVPLEPPESEPPMPVGDPPEKRRGLYLTVPQCPLEKPGSPS
ATPAPGGGADDPV
NT seq 7062 nt NT seq  +upstreamnt  +downstreamnt
atgaccgagggcgcacgggccgccgacgaggtccgggtgcccctgggcgcgccgccccct
ggccctgcggcgttggtgggggcgtccccggagagccccggggcgccgggacgcgaggcg
gagcgggggtccgagctcggcgtgtcaccctccgagagcccggcggccgagcgcggcgcg
gagctgggtgccgacgaggagcagcgcgtcccgtacccggccttggcggccacggtcttc
ttctgcctcggtcagaccacgcggccgcgcagctggtgcctccggctggtctgcaaccca
tggttcgagcacgtgagcatgctggtaatcatgctcaactgcgtgaccctgggcatgttc
cggccctgtgaggacgttgagtgcggctccgagcgctgcaacatcctggaggcctttgac
gccttcattttcgccttttttgcggtggagatggtcatcaagatggtggccttggggctg
ttcgggcagaagtgttacctgggtgacacgtggaacaggctggatttcttcatcgtcgtg
gcgggcatgatggagtactcgttggacggacacaacgtgagcctctcggctatcaggacc
gtgcgggtgctgcggcccctccgcgccatcaaccgcgtgcctagcatgcggatcctggtc
actctgctgctggatacgctgcccatgctcgggaacgtccttctgctgtgcttcttcgtc
ttcttcattttcggcatcgttggcgtccagctctgggctggcctcctgcggaaccgctgc
ttcctggacagtgcctttgtcaggaacaacaacctgaccttcctgcggccgtactaccag
acggaggagggcgaggagaacccgttcatctgctcctcacgccgagacaacggcatgcag
aagtgctcgcacatccccggccgccgcgagctgcgcatgccctgcaccctgggctgggag
gcctacacgcagccgcaggccgagggggtgggcgctgcacgcaacgcctgcatcaactgg
aaccagtactacaacgtgtgccgctcgggtgactccaacccccacaacggtgccatcaac
ttcgacaacatcggctacgcctggattgccatcttccaggtgatcacgctggaaggctgg
gtggacatcatgtactacgtcatggacgcccactcattctacaacttcatctatttcatc
ctgctcatcatcgtgggctccttcttcatgatcaacctgtgcctggtggtgattgccacg
cagttctcggagacgaagcagcgggagagtcagctgatgcgggagcagcgggcacgccac
ctgtccaacgacagcacgctggccagcttctccgagcctggcagctgctacgaagagctg
ctgaagtacgtgggccacatattccgcaaggtcaagcggcgcagcttgcgcctctacgcc
cgctggcagagccgctggcgcaagaaggtggaccccagtgctgtgcaaggccagggtccc
gggcaccgccagcgccgggcaggcaggcacacagcctcggtgcaccacctggtctaccac
caccatcaccaccaccaccaccactaccatttcagccatggcagcccccgcaggcccggc
cccgagccaggcgcctgcgacaccaggctggtccgagctggcgcgcccccctcgccacct
tccccaggccgcggaccccccgacgcagagtctgtgcacagcatctaccatgccgactgc
cacatagaggggccgcaggagagggcccgggtggcacatgccgcagccactgccgctgcc
agcctcagactggccacagggctgggcaccatgaactaccccacgatcctgccctcaggg
gtgggcagcggcaaaggcagcaccagccccggacccaaggggaagtgggccggtggaccg
ccaggcaccggggggcacggcccgttgagcttgaacagccctgatccctacgagaagatc
ccgcatgtggtcggggagcatggactgggccaggcccctggccatctgtcgggcctcagt
gtgccctgccccctgcccagccccccagcgggcacactgacctgtgagctgaagagctgc
ccgtactgcacccgtgccctggaggacccggagggtgagctcagcggctcggaaagtgga
gactcagatggccgtggcgtctatgaattcacgcaggacgtccggcacggtgaccgctgg
gaccccacgcgaccaccccgtgcgacggacacaccaggcccaggcccaggcagcccccag
cggcgggcacagcagagggcagccccgggcgagccaggctggatgggccgcctctgggtt
accttcagcggcaagctgcgccgcatcgtggacagcaagtacttcagccgtggcatcatg
atggccatccttgtcaacacgctgagcatgggcgtggagtaccatgagcagcccgaggag
ctgactaatgctctggagatcagcaacatcgtgttcaccagcatgtttgccctggagatg
ctgctgaagctgctggcctgcggccctctgggctacatccggaacccgtacaacatcttc
gacggcatcatcgtggtcatcagcgtctgggagatcgtggggcaggcggacggtggcttg
tctgtgctgcgcaccttccggctgctgcgtgtgctgaagctggtgcgctttctgccagcc
ctgcggcgccagctcgtggtgctggtgaagaccatggacaacgtggctaccttctgcacg
ctgctcatgctcttcattttcatcttcagcatcctgggcatgcaccttttcggctgcaag
ttcagcctgaagacagacaccggagacaccgtgcctgacaggaagaacttcgactccctg
ctgtgggccatcgtcaccgtgttccagatcctgacccaggaggactggaacgtggtcctg
tacaacggcatggcctccacctcctcctgggccgccctctacttcgtggccctcatgacc
ttcggcaactatgtgctcttcaacctgctggtggccatcctcgtggagggcttccaggcg
gagggcgatgccaacagatccgacacggacgaggacaagacgtcggtccacttcgaggag
gacttccacaagctcagagaactccagaccacagagctgaagatgtgttccctggccgtg
acccccaacgggcacctggagggacgaggcagcctgtcccctcccctcatcatgtgcaca
gctgccacgcccatgcctacccccaagagctcaccattcctggatgcagcccccagcctc
ccagactctcggcgtggcagcagcagctccggggacccgccactgggagaccagaagcct
ccggccagcctccgaagttctccctgtgccccctggggccccagtggcgcctggagcagc
cggcgctccagctggagcagcctgggccgtgcccccagcctcaagcgccgcggccagtgt
ggggaacgtgagtccctgctgtctggcgagggcaagggcagcaccgacgacgaagctgag
gacggcagggccgcgcccgggccccgtgccaccccactgcggcgggccgagtccctggac
ccacggcccctgcggccggccgccctcccgcctaccaagtgccgcgatcgcgacgggcag
gtggtggccctgcccagcgacttcttcctgcgcatcgacagccaccgtgaggatgcagcc
gagcttgacgacgactcggaggacagctgctgcctccgcctgcataaagtgctggagccc
tacaagccccagtggtgccggagccgcgaggcctgggccctctacctcttctccccacag
aaccggttccgcgtctcctgccagaaggtcatcacacacaagatgtttgatcacgtggtc
ctcgtcttcatcttcctcaactgcgtcaccatcgccctggagaggcctgacattgatccc
ggcagcaccgagcgggtcttcctcagcgtctccaattacatcttcacggccatcttcgtg
gcggagatgatggtgaaggtggtggccctggggctgctgtccggcgagcacgcctacctg
cagagcagctggaacctgctggatgggctgctggtgctggtgtccctggtggacattgtc
gtggccatggcctcggctggtggcgccaagatcctgggtgttctgcgcgtgctgcgtctg
ctgcggaccctgcggcctctgagggtcatcagccgggccccgggcctcaagctggtggtg
gagacgctgatatcatcactcaggcccattgggaacatcgtcctcatctgctgcgccttc
ttcatcatttttggcattttgggtgtgcagctcttcaaagggaagttctactactgcgag
ggccccgacaccaggaacatctccaccaaggcacagtgccgggccgcccactaccgctgg
gtgcgacgcaagtacaacttcgacaacctgggccaggccctgatgtcgctgttcgtgctg
tcatccaaggatggatgggtgaacatcatgtacgacgggctggatgccgtgggtgtcgac
cagcagcctgtgcagaaccacaacccctggatgctgctgtacttcatctccttcctgctc
atcgtcagcttcttcgtgctcaacatgttcgtgggcgtcgtggtcgagaacttccacaag
tgccggcagcaccaggaggcggaggaggcgcggcggcgagaggagaagcggctgcggcgc
ctagagaggaggcgcaggagcactttccccagcccagaggcccagcgccggccctactat
gccgactactcgcccacgcgccgctccattcactcgctgtgcaccagccactatctcgac
ctcttcatcaccttcatcatctgtgtcaacgtcatcaccatgtccatggagcactataac
caacccaagtcgctggacgaggccctcaagtactgcaactacgtcttcaccatcgtgttt
gtcttcgaggctgcactgaagctggtagcatttgggttccgtcggttcttcaaggacagg
tggaaccagctggacctggccatcgtgctgctgtcactcatgggcatcacgctggaggag
atagagatgagcgccgcgctgcccatcaaccccaccatcatccgcatcatgcgcgtgctt
cgcattgcccgtgtgctgaagctgctgaagatggctacgggcatgcgcgccctgctggac
actgtggtgcaagctctcccccaggtggggaacctgggccttcttttcatgctcctgttt
tttatctatgctgcgctgggagtggagctgttcgggaggctggagtgcagtgaagacaac
ccctgcgagggcctgagcaggcacgccaccttcagcaacttcggcatggccttcctcacg
ctgttccgcgtgtccacgggggacaactggaacgggatcatgaaggacacgctgcgcgag
tgctcccgtgaggacaagcactgcctgagctacctgccggccctgtcgcccgtctacttc
gtgaccttcgtgctggtggcccagttcgtgctggtgaacgtggtggtggccgtgctcatg
aagcacctggaggagagcaacaaggaggcacgggaggatgcggagctggacgccgagatc
gagctggagatggcgcagggccccgggagtgcacgccgggtggacgcggacaggcctccc
ttgccccaggagagtccgggcgccagggacgccccaaacctggttgcacgcaaggtgtcc
gtgtccaggatgctctcgctgcccaacgacagctacatgttcaggcccgtggtgcctgcc
tcggcgccccacccccgcccgctgcaggaggtggagatggagacctatggggccggcacc
cccttgggctccgttgcctctgtgcactctccgcccgcagagtcctgtgcctccctccag
atcccattggctgtgtcgtccccagccaggagcggcgagcccctccacgccctgtcccct
cggggcacagcccgctcccccagtctcagccggctgctctgcagacaggaggctgtgcac
accgattccttggaagggaagattgacagccctagggacaccctggatcctgcagagcct
ggtgagaaaaccccggtgaggccggtgacccaggggggctccctgcagtccccaccacgc
tccccacggcccgccagcgtccgcactcgtaagcataccttcggacagcgctgcgtctcc
agccggccggcggccccaggcggagaggaggccgaggcctcggacccagccgacgaggag
gtcagccacatcaccagctccgcctgcccctggcagcccacagccgagccccatggcccc
gaagcctctccggtggccggcggcgagcgggacctgcgcaggctctacagcgtggatgct
cagggcttcctggacaagccgggccgggcagacgagcagtggcggccctcggcggagctg
ggcagcggggagcctggggaggcgaaggcctggggccctgaggccgagcccgctctgggt
gcgcgcagaaagaagaagatgagccccccctgcatctcggtggaaccccctgcggaggac
gagggctctgcgcggccctccgcggcagagggcggcagcaccacactgaggcgcaggacc
ccgtcctgtgaggccacgcctcacagggactccctggagcccacagagggctcaggcgcc
gggggggaccctgcagccaagggggagcgctggggccaggcctcctgccgggctgagcac
ctgaccgtccccagctttgcctttgagccgctggacctcggggtccccagtggagaccct
ttcttggacggtagccacagtgtgaccccagaatccagagcttcctcttcaggggccata
gtgcccctggaacccccagaatcagagcctcccatgcccgtcggtgaccccccagagaag
aggcgggggctgtacctcacagtcccccagtgtcctctggagaaaccagggtccccctca
gccacccctgccccagggggtggtgcagatgaccccgtgtag

KEGG   Homo sapiens (human): 8913Help
Entry
8913              CDS       T01001                                 

Gene name
CACNA1G, Ca(V)T.1, Cav3.1, NBR13, SCA42
Definition
(RefSeq) calcium voltage-gated channel subunit alpha1 G
  KO
K04854  
voltage-dependent calcium channel T type alpha-1G
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
Calcium signaling pathway
Circadian entrainment
Aldosterone synthesis and secretion
Type II diabetes mellitus
Disease
H00063  
Spinocerebellar ataxia (SCA)
Drug target
Bepridil (DG00333): 
Ethosuximide: 
Flunarizine (DG01006): 
Mibefradil (DG00328): 
Penfluridol: 
Valproic acid (DG00849): 
Zonisamide: 
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    8913 (CACNA1G)
   04020 Calcium signaling pathway
    8913 (CACNA1G)
 Organismal Systems
  Endocrine system
   04925 Aldosterone synthesis and secretion
    8913 (CACNA1G)
  Environmental adaptation
   04713 Circadian entrainment
    8913 (CACNA1G)
 Human Diseases
  Endocrine and metabolic diseases
   04930 Type II diabetes mellitus
    8913 (CACNA1G)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN alpha-1, CaVx.x
   8913 (CACNA1G)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
O43497(Tclin)
UniProt: 
Position
17q21.33
AA seq 2377 aa AA seqDB search
MDEEEDGAGAEESGQPRSFMRLNDLSGAGGRPGPGSAEKDPGSADSEAEGLPYPALAPVV
FFYLSQDSRPRSWCLRTVCNPWFERISMLVILLNCVTLGMFRPCEDIACDSQRCRILQAF
DDFIFAFFAVEMVVKMVALGIFGKKCYLGDTWNRLDFFIVIAGMLEYSLDLQNVSFSAVR
TVRVLRPLRAINRVPSMRILVTLLLDTLPMLGNVLLLCFFVFFIFGIVGVQLWAGLLRNR
CFLPENFSLPLSVDLERYYQTENEDESPFICSQPRENGMRSCRSVPTLRGDGGGGPPCGL
DYEAYNSSSNTTCVNWNQYYTNCSAGEHNPFKGAINFDNIGYAWIAIFQVITLEGWVDIM
YFVMDAHSFYNFIYFILLIIVGSFFMINLCLVVIATQFSETKQRESQLMREQRVRFLSNA
STLASFSEPGSCYEELLKYLVYILRKAARRLAQVSRAAGVRVGLLSSPAPLGGQETQPSS
SCSRSHRRLSVHHLVHHHHHHHHHYHLGNGTLRAPRASPEIQDRDANGSRRLMLPPPSTP
ALSGAPPGGAESVHSFYHADCHLEPVRCQAPPPRSPSEASGRTVGSGKVYPTVHTSPPPE
TLKEKALVEVAASSGPPTLTSLNIPPGPYSSMHKLLETQSTGACQSSCKISSPCLKADSG
ACGPDSCPYCARAGAGEVELADREMPDSDSEAVYEFTQDAQHSDLRDPHSRRQRSLGPDA
EPSSVLAFWRLICDTFRKIVDSKYFGRGIMIAILVNTLSMGIEYHEQPEELTNALEISNI
VFTSLFALEMLLKLLVYGPFGYIKNPYNIFDGVIVVISVWEIVGQQGGGLSVLRTFRLMR
VLKLVRFLPALQRQLVVLMKTMDNVATFCMLLMLFIFIFSILGMHLFGCKFASERDGDTL
PDRKNFDSLLWAIVTVFQILTQEDWNKVLYNGMASTSSWAALYFIALMTFGNYVLFNLLV
AILVEGFQAEEISKREDASGQLSCIQLPVDSQGGDANKSESEPDFFSPSLDGDGDRKKCL
ALVSLGEHPELRKSLLPPLIIHTAATPMSLPKSTSTGLGEALGPASRRTSSSGSAEPGAA
HEMKSPPSARSSPHSPWSAASSWTSRRSSRNSLGRAPSLKRRSPSGERRSLLSGEGQESQ
DEEESSEEERASPAGSDHRHRGSLEREAKSSFDLPDTLQVPGLHRTASGRGSASEHQDCN
GKSASGRLARALRPDDPPLDGDDADDEGNLSKGERVRAWIRARLPACCLERDSWSAYIFP
PQSRFRLLCHRIITHKMFDHVVLVIIFLNCITIAMERPKIDPHSAERIFLTLSNYIFTAV
FLAEMTVKVVALGWCFGEQAYLRSSWNVLDGLLVLISVIDILVSMVSDSGTKILGMLRVL
RLLRTLRPLRVISRAQGLKLVVETLMSSLKPIGNIVVICCAFFIIFGILGVQLFKGKFFV
CQGEDTRNITNKSDCAEASYRWVRHKYNFDNLGQALMSLFVLASKDGWVDIMYDGLDAVG
VDQQPIMNHNPWMLLYFISFLLIVAFFVLNMFVGVVVENFHKCRQHQEEEEARRREEKRL
RRLEKKRRNLMLDDVIASGSSASAASEAQCKPYYSDYSRFRLLVHHLCTSHYLDLFITGV
IGLNVVTMAMEHYQQPQILDEALKICNYIFTVIFVLESVFKLVAFGFRRFFQDRWNQLDL
AIVLLSIMGITLEEIEVNASLPINPTIIRIMRVLRIARVLKLLKMAVGMRALLDTVMQAL
PQVGNLGLLFMLLFFIFAALGVELFGDLECDETHPCEGLGRHATFRNFGMAFLTLFRVST
GDNWNGIMKDTLRDCDQESTCYNTVISPIYFVSFVLTAQFVLVNVVIAVLMKHLEESNKE
AKEEAELEAELELEMKTLSPQPHSPLGSPFLWPGVEGPDSPDSPKPGALHPAAHARSASH
FSLEHPTDRQLFDTISLLIQGSLEWELKLMDELAGPGGQPSAFPSAPSLGGSDPQIPLAE
MEALSLTSEIVSEPSCSLALTDDSLPDDMHTLLLSALESNMQPHPTELPGPDLLTVRKSG
VSRTHSLPNDSYMCRHGSTAEGPLGHRGWGLPKAQSGSVLSVHSQPADTSYILQLPKDAP
HLLQPHSAPTWGTIPKLPPPGRSPLAQRPLRRQAAIRTDSLDVQGLGSREDLLAEVSGPS
PPLARAYSFWGQSSTQAQQHSRSHSKISKHMTPPAPCPGPEPNWGKGPPETRSSLELDTE
LSWISGDLLPPGGQEEPPSPRDLKKCYSVEAQSCQRRPTSWLDEQRRHSIAVSCLDSGSQ
PHLGTDPSNLGGQPLGGPGSRPKKKLSPPSITIDPPESQGPRTPPSPGICLRRRAPSSDS
KDPLASGPPDSMAASPSPKKDVLSLSGLSSDPADLDP
NT seq 7134 nt NT seq  +upstreamnt  +downstreamnt
atggacgaggaggaggatggagcgggcgccgaggagtcgggacagccccggagcttcatg
cggctcaacgacctgtcgggggccgggggccggccggggccggggtcagcagaaaaggac
ccgggcagcgcggactccgaggcggaggggctgccgtacccggcgctggccccggtggtt
ttcttctacttgagccaggacagccgcccgcggagctggtgtctccgcacggtctgtaac
ccctggtttgagcgcatcagcatgttggtcatccttctcaactgcgtgaccctgggcatg
ttccggccatgcgaggacatcgcctgtgactcccagcgctgccggatcctgcaggccttt
gatgacttcatctttgccttctttgccgtggagatggtggtgaagatggtggccttgggc
atctttgggaaaaagtgttacctgggagacacttggaaccggcttgactttttcatcgtc
atcgcagggatgctggagtactcgctggacctgcagaacgtcagcttctcagctgtcagg
acagtccgtgtgctgcgaccgctcagggccattaaccgggtgcccagcatgcgcatcctt
gtcacgttgctgctggatacgctgcccatgctgggcaacgtcctgctgctctgcttcttc
gtcttcttcatcttcggcatcgtcggcgtccagctgtgggcagggctgcttcggaaccga
tgcttcctacctgagaatttcagcctccccctgagcgtggacctggagcgctattaccag
acagagaacgaggatgagagccccttcatctgctcccagccacgcgagaacggcatgcgg
tcctgcagaagcgtgcccacgctgcgcggggacgggggcggtggcccaccttgcggtctg
gactatgaggcctacaacagctccagcaacaccacctgtgtcaactggaaccagtactac
accaactgctcagcgggggagcacaaccccttcaagggcgccatcaactttgacaacatt
ggctatgcctggatcgccatcttccaggtcatcacgctggagggctgggtcgacatcatg
tactttgtgatggatgctcattccttctacaatttcatctacttcatcctcctcatcatc
gtgggctccttcttcatgatcaacctgtgcctggtggtgattgccacgcagttctcagag
accaagcagcgggaaagccagctgatgcgggagcagcgtgtgcggttcctgtccaacgcc
agcaccctggctagcttctctgagcccggcagctgctatgaggagctgctcaagtacctg
gtgtacatccttcgtaaggcagcccgcaggctggctcaggtctctcgggcagcaggtgtg
cgggttgggctgctcagcagcccagcacccctcgggggccaggagacccagcccagcagc
agctgctctcgctcccaccgccgcctatccgtccaccacctggtgcaccaccaccaccac
catcaccaccactaccacctgggcaatgggacgctcagggccccccgggccagcccggag
atccaggacagggatgccaatgggtcccgccggctcatgctgccaccaccctcgacgcct
gccctctccggggccccccctggtggcgcagagtctgtgcacagcttctaccatgccgac
tgccacttagagccagtccgctgccaggcgccccctcccaggtccccatctgaggcatcc
ggcaggactgtgggcagcgggaaggtgtatcccaccgtgcacaccagccctccaccggag
acgctgaaggagaaggcactagtagaggtggctgccagctctgggcccccaaccctcacc
agcctcaacatcccacccgggccctacagctccatgcacaagctgctggagacacagagt
acaggtgcctgccaaagctcttgcaagatctccagcccttgcttgaaagcagacagtgga
gcctgtggtccagacagctgcccctactgtgcccgggccggggcaggggaggtggagctc
gccgaccgtgaaatgcctgactcagacagcgaggcagtttatgagttcacacaggatgcc
cagcacagcgacctccgggacccccacagccggcggcaacggagcctgggcccagatgca
gagcccagctctgtgctggccttctggaggctaatctgtgacaccttccgaaagattgtg
gacagcaagtactttggccggggaatcatgatcgccatcctggtcaacacactcagcatg
ggcatcgaataccacgagcagcccgaggagcttaccaacgccctagaaatcagcaacatc
gtcttcaccagcctctttgccctggagatgctgctgaagctgcttgtgtatggtcccttt
ggctacatcaagaatccctacaacatcttcgatggtgtcattgtggtcatcagcgtgtgg
gagatcgtgggccagcaggggggcggcctgtcggtgctgcggaccttccgcctgatgcgt
gtgctgaagctggtgcgcttcctgccggcgctgcagcggcagctggtggtgctcatgaag
accatggacaacgtggccaccttctgcatgctgcttatgctcttcatcttcatcttcagc
atcctgggcatgcatctcttcggctgcaagtttgcctctgagcgggatggggacaccctg
ccagaccggaagaattttgactccttgctctgggccatcgtcactgtctttcagatcctg
acccaggaggactggaacaaagtcctctacaatggtatggcctccacgtcgtcctgggcg
gccctttatttcattgccctcatgaccttcggcaactacgtgctcttcaatttgctggtc
gccattctggtggagggcttccaggcggaggaaatcagcaaacgggaagatgcgagtgga
cagttaagctgtattcagctgcctgtcgactcccaggggggagatgccaacaagtccgaa
tcagagcccgatttcttctcacccagcctggatggtgatggggacaggaagaagtgcttg
gccttggtgtccctgggagagcacccggagctgcggaagagcctgctgccgcctctcatc
atccacacggccgccacacccatgtcgctgcccaagagcaccagcacgggcctgggcgag
gcgctgggccctgcgtcgcgccgcaccagcagcagcgggtcggcagagcctggggcggcc
cacgagatgaagtcaccgcccagcgcccgcagctctccgcacagcccctggagcgctgca
agcagctggaccagcaggcgctccagccggaacagcctcggccgtgcacccagcctgaag
cggagaagcccaagtggagagcggcggtccctgttgtcgggagaaggccaggagagccag
gatgaagaggagagctcagaagaggagcgggccagccctgcgggcagtgaccatcgccac
agggggtccctggagcgggaggccaagagttcctttgacctgccagacacactgcaggtg
ccagggctgcatcgcactgccagtggccgagggtctgcttctgagcaccaggactgcaat
ggcaagtcggcttcagggcgcctggcccgggccctgcggcctgatgaccccccactggat
ggggatgacgccgatgacgagggcaacctgagcaaaggggaacgggtccgcgcgtggatc
cgagcccgactccctgcctgctgcctcgagcgagactcctggtcagcctacatcttccct
cctcagtccaggttccgcctcctgtgtcaccggatcatcacccacaagatgttcgaccac
gtggtccttgtcatcatcttccttaactgcatcaccatcgccatggagcgccccaaaatt
gacccccacagcgctgaacgcatcttcctgaccctctccaattacatcttcaccgcagtc
tttctggctgaaatgacagtgaaggtggtggcactgggctggtgcttcggggagcaggcg
tacctgcggagcagttggaacgtgctggacgggctgttggtgctcatctccgtcatcgac
attctggtgtccatggtctctgacagcggcaccaagatcctgggcatgctgagggtgctg
cggctgctgcggaccctgcgcccgctcagggtgatcagccgggcgcaggggctgaagctg
gtggtggagacgctgatgtcctcactgaaacccatcggcaacattgtagtcatctgctgt
gccttcttcatcattttcggcatcttgggggtgcagctcttcaaagggaagtttttcgtg
tgccagggcgaggataccaggaacatcaccaataaatcggactgtgccgaggccagttac
cggtgggtccggcacaagtacaactttgacaaccttggccaggccctgatgtccctgttc
gttttggcctccaaggatggttgggtggacatcatgtacgatgggctggatgctgtgggc
gtggaccagcagcccatcatgaaccacaacccctggatgctgctgtacttcatctcgttc
ctgctcattgtggccttctttgtcctgaacatgtttgtgggtgtggtggtggagaacttc
cacaagtgtcggcagcaccaggaggaagaggaggcccggcggcgggaggagaagcgccta
cgaagactggagaaaaagagaaggaatctaatgctggacgatgtaattgcttccggcagc
tcagccagcgctgcgtcagaagcccagtgcaaaccttactactccgactactcccgcttc
cggctcctcgtccaccacttgtgcaccagccactacctggacctcttcatcacaggtgtc
atcgggctgaacgtggtcaccatggccatggagcactaccagcagccccagattctggat
gaggctctgaagatctgcaactacatcttcactgtcatctttgtcttggagtcagttttc
aaacttgtggcctttggtttccgtcggttcttccaggacaggtggaaccagctggacctg
gccattgtgctgctgtccatcatgggcatcacgctggaggaaatcgaggtcaacgcctcg
ctgcccatcaaccccaccatcatccgcatcatgagggtgctgcgcattgcccgagtgctg
aagctgctgaagatggctgtgggcatgcgggcgctgctggacacggtgatgcaggccctg
ccccaggtggggaacctgggacttctcttcatgttgttgtttttcatctttgcagctctg
ggcgtggagctctttggagacctggagtgtgacgagacacacccctgtgagggcctgggc
cgtcatgccacctttcggaactttggcatggccttcctaaccctcttccgagtctccaca
ggtgacaattggaatggcattatgaaggacaccctccgggactgtgaccaggagtccacc
tgctacaacacggtcatctcgcctatctactttgtgtccttcgtgctgacggcccagttc
gtgctagtcaacgtggtgatcgccgtgctgatgaagcacctggaggagagcaacaaggag
gccaaggaggaggccgagctagaggctgagctggagctggagatgaagaccctcagcccc
cagccccactcgccactgggcagccccttcctctggcctggggtcgagggccccgacagc
cccgacagccccaagcctggggctctgcacccagcggcccacgcgagatcagcctcccac
ttttccctggagcaccccacggacaggcagctgtttgacaccatatccctgctgatccag
ggctccctggagtgggagctgaagctgatggacgagctggcaggcccagggggccagccc
tctgccttcccttctgcccccagcctgggaggctccgacccacagatccctctagctgag
atggaggctctgtctctgacgtcagagattgtgtctgaaccgtcctgctctctagctctg
acggatgactctttgcctgatgacatgcacacactcttacttagtgccctggagagcaat
atgcagccccaccccacggagctgccaggaccagacttactgactgtgcggaagtctggg
gtcagccgaacgcactctctgcccaatgacagctacatgtgtcggcatgggagcactgcc
gaggggcccctgggacacaggggctgggggctccccaaagctcagtcaggctccgtcttg
tccgttcactcccagccagcagataccagctacatcctgcagcttcccaaagatgcacct
catctgctccagccccacagcgccccaacctggggcaccatccccaaactgcccccacca
ggacgctcccctttggctcagaggccactcaggcgccaggcagcaataaggactgactcc
ttggacgttcagggtctgggcagccgggaagacctgctggcagaggtgagtgggccctcc
ccgcccctggcccgggcctactctttctggggccagtcaagtacccaggcacagcagcac
tcccgcagccacagcaagatctccaagcacatgaccccgccagccccttgcccaggccca
gaacccaactggggcaagggccctccagagaccagaagcagcttagagttggacacggag
ctgagctggatttcaggagacctcctgccccctggcggccaggaggagcccccatcccca
cgggacctgaagaagtgctacagcgtggaggcccagagctgccagcgccggcctacgtcc
tggctggatgagcagaggagacactctatcgccgtcagctgcctggacagcggctcccaa
ccccacctgggcacagacccctctaaccttgggggccagcctcttggggggcctgggagc
cggcccaagaaaaaactcagcccgcctagtatcaccatagacccccccgagagccaaggt
cctcggaccccgcccagccctggtatctgcctccggaggagggctccgtccagcgactcc
aaggatcccttggcctctggcccccctgacagcatggctgcctcgccctccccaaagaaa
gatgtgctgagtctctccggtttatcctctgacccagcagacctggacccctga

KEGG   Homo sapiens (human): 9254Help
Entry
9254              CDS       T01001                                 

Gene name
CACNA2D2, CACNA2D
Definition
(RefSeq) calcium voltage-gated channel auxiliary subunit alpha2delta 2
  KO
K04859  
voltage-dependent calcium channel alpha-2/delta-2
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Oxytocin signaling pathway
Hypertrophic cardiomyopathy (HCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Dilated cardiomyopathy (DCM)
Drug target
Gabapentin: 
Gabapentin (DG01245): 
Pregabalin: 
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    9254 (CACNA2D2)
 Organismal Systems
  Endocrine system
   04921 Oxytocin signaling pathway
    9254 (CACNA2D2)
  Circulatory system
   04260 Cardiac muscle contraction
    9254 (CACNA2D2)
   04261 Adrenergic signaling in cardiomyocytes
    9254 (CACNA2D2)
 Human Diseases
  Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    9254 (CACNA2D2)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    9254 (CACNA2D2)
   05414 Dilated cardiomyopathy (DCM)
    9254 (CACNA2D2)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN alpha-2 delta
   9254 (CACNA2D2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
Q9NY47(Tclin)
UniProt: 
Position
3p21.31
AA seq 1150 aa AA seqDB search
MAVPARTCGASRPGPARTARPWPGCGPHPGPGTRRPTSGPPRPLWLLLPLLPLLAAPGAS
AYSFPQQHTMQHWARRLEQEVDGVMRIFGGVQQLREIYKDNRNLFEVQENEPQKLVEKVA
GDIESLLDRKVQALKRLADAAENFQKAHRWQDNIKEEDIVYYDAKADAELDDPESEDVER
GSKASTLRLDFIEDPNFKNKVNYSYAAVQIPTDIYKGSTVILNELNWTEALENVFMENRR
QDPTLLWQVFGSATGVTRYYPATPWRAPKKIDLYDVRRRPWYIQGASSPKDMVIIVDVSG
SVSGLTLKLMKTSVCEMLDTLSDDDYVNVASFNEKAQPVSCFTHLVQANVRNKKVFKEAV
QGMVAKGTTGYKAGFEYAFDQLQNSNITRANCNKMIMMFTDGGEDRVQDVFEKYNWPNRT
VRVFTFSVGQHNYDVTPLQWMACANKGYYFEIPSIGAIRINTQEYLDVLGRPMVLAGKEA
KQVQWTNVYEDALGLGLVVTGTLPVFNLTQDGPGEKKNQLILGVMGIDVALNDIKRLTPN
YTLGANGYVFAIDLNGYVLLHPNLKPQTTNFREPVTLDFLDAELEDENKEEIRRSMIDGN
KGHKQIRTLVKSLDERYIDEVTRNYTWVPIRSTNYSLGLVLPPYSTFYLQANLSDQILQV
KLPISKLKDFEFLLPSSFESEGHVFIAPREYCKDLNASDNNTEFLKNFIELMEKVTPDSK
QCNNFLLHNLILDTGITQQLVERVWRDQDLNTYSLLAVFAATDGGITRVFPNKAAEDWTE
NPEPFNASFYRRSLDNHGYVFKPPHQDALLRPLELENDTVGILVSTAVELSLGRRTLRPA
VVGVKLDLEAWAEKFKVLASNRTHQDQPQKCGPNSHCEMDCEVNNEDLLCVLIDDGGFLV
LSNQNHQWDQVGRFFSEVDANLMLALYNNSFYTRKESYDYQAACAPQPPGNLGAAPRGVF
VPTVADFLNLAWWTSAAAWSLFQQLLYGLIYHSWFQADPAEAEGSPETRESSCVMKQTQY
YFGSVNASYNAIIDCGNCSRLFHAQRLTNTNLLFVVAEKPLCSQCEAGRLLQKETHSDGP
EQCELVQRPRYRRGPHICFDYNATEDTSDCGRGASFPPSLGVLVSLQLLLLLGLPPRPQP
QVLVHASRRL
NT seq 3453 nt NT seq  +upstreamnt  +downstreamnt
atggcggtgccggctcggacctgcggcgcctctcggcccggcccagcgcggactgcgcgc
ccctggcccggctgcggcccccaccctggccccggcacccggcgcccgacgtccgggccc
ccgcgcccgctgtggctgctgctgccgcttctaccgctgctcgccgcccccggcgcctct
gcctacagcttcccccagcagcacacgatgcagcactgggcccggcgtctggagcaggag
gtcgacggcgtgatgcggatttttggaggcgtccagcagctccgtgagatttacaaggac
aaccggaacctgttcgaggtacaggagaatgagcctcagaagttggtggagaaggtggca
ggggacattgagagccttctggacaggaaggtgcaggccctgaagagactggctgatgct
gcagagaacttccagaaagcacaccgctggcaggacaacatcaaggaggaagacatcgtg
tactatgacgccaaggctgacgctgagctggacgaccctgagagtgaggatgtggaaagg
gggtctaaggccagcaccctaaggctggacttcatcgaggacccaaacttcaagaacaag
gtcaactattcatacgcggctgtacagatccctacggacatctacaaaggctccactgtc
atcctcaatgagctcaactggacagaggccctggagaatgtgttcatggaaaaccgcaga
caagaccccacactgctgtggcaggtcttcggcagcgccacaggagtcactcgctactac
ccggccaccccgtggcgagcccccaagaagatcgacctgtacgatgtccgaaggagaccc
tggtatatccagggggcctcgtcacccaaagacatggtcatcatcgtggatgtgagtggc
agtgtgagcggcctgaccctgaagctgatgaagacatctgtctgcgagatgctggacacg
ctgtctgatgatgactatgtgaatgtggcctcgttcaacgagaaggcacagcctgtgtca
tgcttcacacacctggtgcaggccaatgtgcgcaacaagaaggtgttcaaggaagctgtg
cagggcatggtggccaagggcaccacaggctacaaggccggctttgagtatgcctttgac
cagctgcagaactccaacatcactcgggccaactgcaacaagatgatcatgatgttcacg
gatggtggtgaggaccgcgtgcaggacgtctttgagaagtacaattggccaaaccggacg
gtgcgcgtgtttactttctccgtggggcagcataactatgacgtcacaccgctgcagtgg
atggcctgtgccaacaaaggctactattttgagatcccttccatcggagccatccgcatc
aacacacaggaatatctagatgtgttgggcaggcccatggtgctggcaggcaaggaggcc
aagcaggtgcagtggaccaacgtgtatgaggatgcactgggactggggttggtggtaaca
gggaccctccctgttttcaacctgacacaggatggccctggggaaaagaagaaccagctg
atcctgggcgtgatgggcattgacgtggctctgaatgacatcaagaggctgacccccaac
tacacgcttggagccaacggctatgtgtttgccattgacctgaacggctacgtgttgctg
caccccaatctcaagccccagaccaccaacttccgggagcctgtgactctggacttcctg
gatgcggagctagaggatgagaacaaggaagagatccgtcggagcatgattgatggcaac
aagggccacaagcagatcagaacgttggtcaagtccctggatgagaggtacatagatgag
gtgacacggaactacacctgggtgcctataaggagcactaactacagcctggggctggtg
ctcccaccctacagcaccttctacctccaagccaatctcagtgaccagatcctgcaggtc
aagttgccaatcagcaaactgaaggattttgagttcctgctccccagcagctttgagtct
gaaggacacgttttcattgctcccagagagtactgcaaggacctgaatgcctcagacaac
aacaccgagttcctgaaaaactttattgagctcatggagaaagtgactccagactccaag
cagtgcaacaacttccttctgcacaacctgatcttggacacgggcatcacgcagcagctg
gtagagcgtgtgtggagggaccaggatctcaacacgtacagcctactggccgtgttcgct
gccacagacggtggcatcacccgagtcttccccaacaaggcagctgaggactggacagag
aaccctgagcccttcaatgccagcttctaccgccgcagcctggataaccacggttatgtc
ttcaagcccccacaccaggatgccctgttaaggccgctggagctggagaatgacactgtg
ggcatcctcgtcagcacagctgtggagctcagcctaggcaggcgcacactgaggccagca
gtggtgggcgtcaagctggacctagaggcttgggctgagaagttcaaggtgctagccagc
aaccgtacccaccaagaccagcctcagaagtgcggccccaacagccactgtgagatggac
tgcgaggttaacaatgaggacttactctgtgtcctcattgatgatggaggattcctggtg
ctgtcaaaccagaaccatcagtgggaccaggtgggcaggttcttcagtgaggtggatgcc
aacctgatgctggcactctacaataactccttctacacccgcaaggagtcctatgactat
caggcagcctgtgcccctcagccccctggcaacctgggtgctgcaccccggggtgtcttt
gtgcccaccgttgcagatttccttaacctggcctggtggacctctgctgccgcctggtcc
ctgttccagcagcttctctacggcctcatctaccacagctggttccaagcagaccccgcg
gaggccgaggggagccccgagacgcgcgagagcagctgcgtcatgaaacagacccagtac
tacttcggctcggtaaacgcctcctacaacgccatcatcgactgcggaaactgctccagg
ctgttccacgcgcagagactgaccaacaccaatcttctctttgtggtggccgagaagccg
ctgtgcagccagtgcgaggctggccggctgctgcagaaggagacgcactcggacggcccg
gagcagtgtgagctagtgcagagaccgcgataccggagaggcccgcacatctgcttcgac
tacaacgcgacagaagatacctcagactgtggccgcggggcctccttcccgccgtcgctg
ggcgtcctggtctccctgcaactgctgctcctcctgggcctgccgccccggccgcagcct
caagtcctcgtccacgcctctcgccgcctctga

KEGG   Homo sapiens (human): 93589Help
Entry
93589             CDS       T01001                                 

Gene name
CACNA2D4, RCD4
Definition
(RefSeq) calcium voltage-gated channel auxiliary subunit alpha2delta 4
  KO
K04861  
voltage-dependent calcium channel alpha-2/delta-4
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Oxytocin signaling pathway
Hypertrophic cardiomyopathy (HCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Dilated cardiomyopathy (DCM)
Disease
H00481  
Cone-rod dystrophy and cone dystrophy
Drug target
Gabapentin: 
Gabapentin (DG01245): 
Pregabalin: 
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    93589 (CACNA2D4)
 Organismal Systems
  Endocrine system
   04921 Oxytocin signaling pathway
    93589 (CACNA2D4)
  Circulatory system
   04260 Cardiac muscle contraction
    93589 (CACNA2D4)
   04261 Adrenergic signaling in cardiomyocytes
    93589 (CACNA2D4)
 Human Diseases
  Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    93589 (CACNA2D4)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    93589 (CACNA2D4)
   05414 Dilated cardiomyopathy (DCM)
    93589 (CACNA2D4)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN alpha-2 delta
   93589 (CACNA2D4)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
Q7Z3S7(Tbio)
UniProt: 
Position
12p13.33
AA seq 1137 aa AA seqDB search
MVCGCSALLPLPNPRPTMPATPNFLANPSSSSRWIPLQPMPVAWAFVQKTSALLWLLLLG
TSLSPAWGQAKIPLETVKLWADTFGGDLYNTVTKYSGSLLLQKKYKDVESSLKIEEVDGL
ELVRKFSEDMENMLRRKVEAVQNLVEAAEEADLNHEFNESLVFDYYNSVLINERDEKGNF
VELGAEFLLESNAHFSNLPVNTSISSVQLPTNVYNKDPDILNGVYMSEALNAVFVENFQR
DPTLTWQYFGSATGFFRIYPGIKWTPDENGVITFDCRNRGWYIQAATSPKDIVILVDVSG
SMKGLRMTIAKHTITTILDTLGENDFINIIAYNDYVHYIEPCFKGILVQADRDNREHFKL
LVEELMVKGVGVVDQALREAFQILKQFQEAKQGSLCNQAIMLISDGAVEDYEPVFEKYNW
PDCKVRVFTYLIGREVSFADRMKWIACNNKGYYTQISTLADTQENVMEYLHVLSRPMVIN
HDHDIIWTEAYMDSKLLSSQAQSLTLLTTVAMPVFSKKNETRSHGILLGVVGSDVALREL
MKLAPRYKLGVHGYAFLNTNNGYILSHPDLRPLYREGKKLKPKPNYNSVDLSEVEWEDQA
ESLRTAMINRETGTLSMDVKVPMDKGKRVLFLTNDYFFTDISDTPFSLGVVLSRGHGEYI
LLGNTSVEEGLHDLLHPDLALAGDWIYCITDIDPDHRKLSQLEAMIRFLTRKDPDLECDE
ELVREVLFDAVVTAPMEAYWTALALNMSEESEHVVDMAFLGTRAGLLRSSLFVGSEKVSD
RKFLTPEDEASVFTLDRFPLWYRQASEHPAGSFVFNLRWAEGPESAGEPMVVTASTAVAV
TVDKRTAIAAAAGVQMKLEFLQRKFWAATRQCSTVDGPCTQSCEDSDLDCFVIDNNGFIL
ISKRSRETGRFLGEVDGAVLTQLLSMGVFSQVTMYDYQAMCKPSSHHHSAAQPLVSPISA
FLTATRWLLQELVLFLLEWSVWGSWYDRGAEAKSVFHHSHKHKKQDPLQPCDTEYPVFVY
QPAIREANGIVECGPCQKVFVVQQIPNSNLLLLVTDPTCDCSIFPPVLQEATEVKYNASV
KCDRMRSQKLRRRPDSCHAFHPEENAQDCGGASDTSASPPLLLLPVCAWGLLPQLLR
NT seq 3414 nt NT seq  +upstreamnt  +downstreamnt
atggtctgtggctgctctgccctccttcccctccccaaccccaggcccaccatgcctgca
actcccaacttcctcgcaaaccccagctccagcagccgctggattcccctccagccaatg
cccgtggcctgggcctttgtgcagaagacctcggccctcctgtggctgctgcttctaggc
acctccctgtcccctgcgtggggacaggccaagattcctctggaaacagtgaagctatgg
gctgacaccttcggcggggacctgtataacactgtgaccaaatactcaggctctctcttg
ctgcagaagaagtacaaggatgtggagtccagtctgaagatcgaggaggtggatggcttg
gagctggtgaggaagttctcagaggacatggagaacatgctgcggaggaaagtcgaggcg
gtccagaatctggtggaagctgccgaggaggccgacctgaaccacgaattcaatgaatcc
ctggtgttcgactattacaactcggtcctgatcaacgagagggacgagaagggcaacttc
gtggagctgggcgccgagttcctcctggagtccaatgctcacttcagcaacctgccggtg
aacacctccatcagcagcgtgcagctgcccaccaacgtgtacaacaaagacccagatatt
ttaaatggagtctacatgtctgaagccttgaatgctgtcttcgtggagaacttccagaga
gacccaacgttgacctggcaatattttggcagtgcaactggattcttcaggatctatcca
ggtataaaatggacacctgatgagaatggagtcattacttttgactgccgaaaccgcggc
tggtacattcaagctgctacttctcccaaggacatagtgattttggtggacgtgagcggc
agtatgaaggggctgaggatgactattgccaagcacaccatcaccaccatcttggacacc
ctgggggagaatgacttcattaatatcatagcgtacaatgactacgtccattacatcgag
ccttgttttaaagggatcctcgtccaggcggaccgagacaatcgagagcatttcaaactg
ctggtggaggagttgatggtcaaaggtgtgggggtcgtggaccaagccctgagagaagcc
ttccagatcctgaagcagttccaagaggccaagcaaggaagcctctgcaaccaggccatc
atgctcatcagcgacggcgccgtggaggactacgagccggtgtttgagaagtataactgg
ccagactgtaaggtccgagttttcacttacctcattgggagagaagtgtcttttgctgac
cgcatgaagtggattgcatgcaacaacaaaggctactacacgcagatctcaacgctggcg
gacacccaggagaacgtgatggaatacctgcacgtgctcagccgccccatggtcatcaac
cacgaccacgacatcatctggacagaggcctacatggacagcaagctcctcagctcgcag
gctcagagcctgacactgctcaccactgtggccatgccagtcttcagcaagaagaacgaa
acgcgatcccatggcattctcctgggtgtggtgggctcagatgtggccctgagagagctg
atgaagctggcgccccggtacaagcttggagtgcacggatacgcctttctgaacaccaac
aatggctacatcctctcccatcccgacctccggcccctgtacagagaggggaagaaacta
aaacccaaacctaactacaacagtgtggatctctccgaagtggagtgggaagaccaggct
gaatctctgagaacagccatgatcaatagggaaacaggtactctctcgatggatgtgaag
gttccgatggataaagggaagcgagttcttttcctgaccaatgactacttcttcacggac
atcagcgacacccctttcagtttgggggtggtgctgtcccggggccacggagaatacatc
cttctggggaacacgtctgtggaagaaggcctgcatgacttgcttcacccagacctggcc
ctggccggtgactggatctactgcatcacagatattgacccagaccaccggaagctcagc
cagctagaggccatgatccgcttcctcaccaggaaggacccagacctggagtgtgacgag
gagctggtccgggaggtgctgtttgacgcggtggtgacagcccccatggaagcctactgg
acagcgctggccctcaacatgtccgaggagtctgaacacgtggtggacatggccttcctg
ggcacccgggctggcctcctgagaagcagcttgttcgtgggctccgagaaggtctccgac
aggaagttcctgacacctgaggacgaggccagcgtgttcaccctggaccgcttcccgctg
tggtaccgccaggcctcagagcatcctgctggcagcttcgtcttcaacctccgctgggca
gaaggaccagaaagtgcgggtgaacccatggtggtgacggcaagcacagctgtggcggtg
accgtggacaagaggacagccattgctgcagccgcgggcgtccaaatgaagctggaattc
ctccagcgcaaattctgggcggcaacgcggcagtgcagcactgtggatgggccgtgcaca
cagagctgcgaggacagtgatctggactgcttcgtcatcgacaacaacgggttcattctg
atctccaagaggtcccgagagacgggaagatttctgggggaggtggatggtgctgtcctg
acccagctgctcagcatgggggtgttcagccaagtgactatgtatgactatcaggccatg
tgcaaaccctcgagtcaccaccacagtgcagcccagcccctggtcagcccaatttctgcc
ttcttgacggcgaccaggtggctgctgcaggagctggtgctgttcctgctggagtggagt
gtctggggctcctggtacgacagaggggccgaggccaaaagtgtcttccatcactcccac
aaacacaagaagcaggacccgctgcagccctgcgacacggagtaccccgtgttcgtgtac
cagccggccatccgggaggccaacgggatcgtggagtgcgggccctgccagaaggtattt
gtggtgcagcagattcccaacagtaacctcctcctcctggtgacagaccccacctgtgac
tgcagcatcttcccaccagtgctgcaggaggcgacagaagtcaaatataatgcctctgtc
aaatgtgaccggatgcgctcccagaagctccgccggcgaccagactcctgccacgccttc
catccagaggagaatgcccaggactgcggcggcgcctcggacacctcagcctcgccgccc
ctactcctgctgcctgtgtgtgcctgggggctactgccccaactcctgcggtga

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