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
hsa04010  MAPK signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04921  Oxytocin signaling pathway
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    10368 (CACNG3)
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    10368 (CACNG3)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    10368 (CACNG3)
   04261 Adrenergic signaling in cardiomyocytes
    10368 (CACNG3)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy (HCM)
    10368 (CACNG3)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    10368 (CACNG3)
   05414 Dilated cardiomyopathy (DCM)
    10368 (CACNG3)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    10368 (CACNG3)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   10368 (CACNG3)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: PMP22_Claudin Claudin_2 ABC2_membrane_2
Motif
Other DBs
NCBI-GeneID: 10368
NCBI-ProteinID: NP_006530
OMIM: 606403
HGNC: 1407
Ensembl: ENSG00000006116
Vega: OTTHUMG00000131651
Pharos: O60359(Tbio)
UniProt: O60359
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
hsa04010  MAPK signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04921  Oxytocin signaling pathway
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
Disease
H00773  Autosomal dominant mental retardation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    10369 (CACNG2)
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    10369 (CACNG2)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    10369 (CACNG2)
   04261 Adrenergic signaling in cardiomyocytes
    10369 (CACNG2)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy (HCM)
    10369 (CACNG2)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    10369 (CACNG2)
   05414 Dilated cardiomyopathy (DCM)
    10369 (CACNG2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    10369 (CACNG2)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   10369 (CACNG2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: PMP22_Claudin Claudin_2 AA_permease_2 CD20
Motif
Other DBs
NCBI-GeneID: 10369
NCBI-ProteinID: NP_006069
OMIM: 602911
HGNC: 1406
Ensembl: ENSG00000166862
Vega: OTTHUMG00000030612
Pharos: Q9Y698(Tbio)
UniProt: Q9Y698
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
hsa04010  MAPK signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04921  Oxytocin signaling pathway
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    27091 (CACNG5)
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    27091 (CACNG5)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    27091 (CACNG5)
   04261 Adrenergic signaling in cardiomyocytes
    27091 (CACNG5)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy (HCM)
    27091 (CACNG5)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    27091 (CACNG5)
   05414 Dilated cardiomyopathy (DCM)
    27091 (CACNG5)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    27091 (CACNG5)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   27091 (CACNG5)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: PMP22_Claudin Claudin_2 SUR7 COPI_assoc DUF716 AgrD DUF4199 DHHC
Motif
Other DBs
NCBI-GeneID: 27091
NCBI-ProteinID: NP_665810
OMIM: 606405
HGNC: 1409
Ensembl: ENSG00000075429
Vega: OTTHUMG00000166468
Pharos: Q9UF02(Tdark)
UniProt: Q9UF02
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
hsa04010  MAPK signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04921  Oxytocin signaling pathway
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    27092 (CACNG4)
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    27092 (CACNG4)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    27092 (CACNG4)
   04261 Adrenergic signaling in cardiomyocytes
    27092 (CACNG4)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy (HCM)
    27092 (CACNG4)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    27092 (CACNG4)
   05414 Dilated cardiomyopathy (DCM)
    27092 (CACNG4)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    27092 (CACNG4)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   27092 (CACNG4)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: PMP22_Claudin Claudin_2 AA_permease_2 DUF2269
Motif
Other DBs
NCBI-GeneID: 27092
NCBI-ProteinID: NP_055220
OMIM: 606404
HGNC: 1408
Ensembl: ENSG00000075461
Vega: OTTHUMG00000179550
Pharos: Q9UBN1(Tdark)
UniProt: Q9UBN1 A0A024R8J8
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
hsa04010  MAPK signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04921  Oxytocin signaling pathway
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
Drug target
Gabapentin (DG01245): D00332 D09539
Pregabalin: D02716
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    55799 (CACNA2D3)
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    55799 (CACNA2D3)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    55799 (CACNA2D3)
   04261 Adrenergic signaling in cardiomyocytes
    55799 (CACNA2D3)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy (HCM)
    55799 (CACNA2D3)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    55799 (CACNA2D3)
   05414 Dilated cardiomyopathy (DCM)
    55799 (CACNA2D3)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    55799 (CACNA2D3)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   55799 (CACNA2D3)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: VGCC_alpha2 VWA_N dCache_1 VWA_3 VWA VWA_2 dCache_2 Cache_3-Cache_2 VWA_CoxE Phage_holin_6_1
Motif
Other DBs
NCBI-GeneID: 55799
NCBI-ProteinID: NP_060868
OMIM: 606399
HGNC: 15460
Ensembl: ENSG00000157445
Vega: OTTHUMG00000158580
Pharos: Q8IZS8(Tbio)
UniProt: Q8IZS8
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
gaaattgatggcctccaactggtaaagaagctggcaaagaacatggaagagatgtttcac
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
hsa04010  MAPK signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04921  Oxytocin signaling pathway
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    59283 (CACNG8)
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    59283 (CACNG8)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    59283 (CACNG8)
   04261 Adrenergic signaling in cardiomyocytes
    59283 (CACNG8)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy (HCM)
    59283 (CACNG8)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    59283 (CACNG8)
   05414 Dilated cardiomyopathy (DCM)
    59283 (CACNG8)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    59283 (CACNG8)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   59283 (CACNG8)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: PMP22_Claudin Claudin_2 DUF2269 AA_permease_2 DUF981 TMEM173
Motif
Other DBs
NCBI-GeneID: 59283
NCBI-ProteinID: NP_114101
OMIM: 606900
HGNC: 13628
Ensembl: ENSG00000142408
Vega: OTTHUMG00000064908
Pharos: Q8WXS5(Tdark)
UniProt: Q8WXS5
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
hsa04010  MAPK signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04921  Oxytocin signaling pathway
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    59284 (CACNG7)
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    59284 (CACNG7)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    59284 (CACNG7)
   04261 Adrenergic signaling in cardiomyocytes
    59284 (CACNG7)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy (HCM)
    59284 (CACNG7)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    59284 (CACNG7)
   05414 Dilated cardiomyopathy (DCM)
    59284 (CACNG7)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    59284 (CACNG7)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   59284 (CACNG7)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Claudin_2 PMP22_Claudin DUF716 Amastin Claudin_3 L_HMGIC_fpl
Motif
Other DBs
NCBI-GeneID: 59284
NCBI-ProteinID: NP_114102
OMIM: 606899
HGNC: 13626
Ensembl: ENSG00000105605
Vega: OTTHUMG00000064852
Pharos: P62955(Tdark)
UniProt: P62955
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
hsa04010  MAPK signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04921  Oxytocin signaling pathway
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    59285 (CACNG6)
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    59285 (CACNG6)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    59285 (CACNG6)
   04261 Adrenergic signaling in cardiomyocytes
    59285 (CACNG6)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy (HCM)
    59285 (CACNG6)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    59285 (CACNG6)
   05414 Dilated cardiomyopathy (DCM)
    59285 (CACNG6)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    59285 (CACNG6)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   59285 (CACNG6)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Claudin_2 PMP22_Claudin DUF1700 DUF1686 Phage_holin_3_6
Motif
Other DBs
NCBI-GeneID: 59285
NCBI-ProteinID: NP_665813
OMIM: 606898
HGNC: 13625
Ensembl: ENSG00000130433
Vega: OTTHUMG00000064907
Pharos: Q9BXT2(Tdark)
UniProt: Q9BXT2
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): 775Help
Entry
775               CDS       T01001                                 

Gene name
CACNA1C, CACH2, CACN2, CACNL1A1, CCHL1A1, CaV1.2, LQT8, TS, TS._LQT8
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
hsa04010  MAPK signaling pathway
hsa04020  Calcium signaling pathway
hsa04022  cGMP-PKG signaling pathway
hsa04024  cAMP signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04270  Vascular smooth muscle contraction
hsa04713  Circadian entrainment
hsa04720  Long-term potentiation
hsa04723  Retrograde endocannabinoid signaling
hsa04724  Glutamatergic synapse
hsa04725  Cholinergic synapse
hsa04726  Serotonergic synapse
hsa04727  GABAergic synapse
hsa04728  Dopaminergic synapse
hsa04742  Taste transduction
hsa04911  Insulin secretion
hsa04912  GnRH signaling pathway
hsa04921  Oxytocin signaling pathway
hsa04924  Renin secretion
hsa04925  Aldosterone synthesis and secretion
hsa04927  Cortisol synthesis and secretion
hsa04929  GnRH secretion
hsa04930  Type II diabetes mellitus
hsa04934  Cushing syndrome
hsa05010  Alzheimer disease
hsa05031  Amphetamine addiction
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
Disease
H00720  Long QT syndrome
H00728  Brugada syndrome
Drug target
Amlodipine (DG00322): D00615 D02914 D07450
Aranidipine: D01562
Azelnidipine: D01145
Barnidipine (DG00325): D01104 D07494
Belfosdil: D03067
Benidipine (DG00327): D02045 D07509
Bepridil (DG00333): D00631 D07520
Bevantolol: D01369
Cilnidipine: D01173
Clentiazem maleate: D03536
Clevidipine: D08892
Darodipine: D03655
Diltiazem (DG00331): D00616 D03830 D07845
Dronedarone (DG00207): D02537 D03914
Efonidipine (DG01382): D01604 D07886
Etripamil: D10932
Felodipine: D00319
Fendiline (DG00332): D07185 D07943
Flordipine: D04193
Fostedil: D04260
Gallopamil (DG00330): D01969 D08009
Isradipine: D00349
Kirenidipine hydrochloride: D09789
Lacidipine: D04657
Lemildipine: D01151
Lercanidipine (DG00326): D01849 D08111
Levosemotiadil fumarate: D09833
Manidipine (DG00324): D01553 D08155
Mibefradil (DG00328): D05024 D08217
Monatepil maleate: D01171
Nicardipine (DG00323): D00617 D08270
Nifedipine: D00437
Nilvadipine: D01908
Nimodipine: D00438
Nisoldipine: D00618
Nitrendipine: D00629
Paramethadione: D00495
Perhexiline (DG00334): D05442 D08340
Propiverine (DG00479): D01007 D08441
Tamolarizine hydrochloride: D11102
Tiapamil hydrochloride: D06129
Topiramate: D00537
Vatanidipine hydrochloride: D01933
Verapamil (DG00329): D00619 D02356
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 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)
 09150 Organismal Systems
  09152 Endocrine system
   04911 Insulin secretion
    775 (CACNA1C)
   04929 GnRH 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)
   04927 Cortisol synthesis and secretion
    775 (CACNA1C)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    775 (CACNA1C)
   04261 Adrenergic signaling in cardiomyocytes
    775 (CACNA1C)
   04270 Vascular smooth muscle contraction
    775 (CACNA1C)
  09156 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)
  09157 Sensory system
   04742 Taste transduction
    775 (CACNA1C)
  09159 Environmental adaptation
   04713 Circadian entrainment
    775 (CACNA1C)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    775 (CACNA1C)
  09165 Substance dependence
   05031 Amphetamine addiction
    775 (CACNA1C)
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy (HCM)
    775 (CACNA1C)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    775 (CACNA1C)
   05414 Dilated cardiomyopathy (DCM)
    775 (CACNA1C)
  09167 Endocrine and metabolic disease
   04930 Type II diabetes mellitus
    775 (CACNA1C)
   04934 Cushing syndrome
    775 (CACNA1C)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    775 (CACNA1C)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   775 (CACNA1C)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Ion_trans CAC1F_C Ca_chan_IQ GPHH PKD_channel
Motif
Other DBs
NCBI-GeneID: 775
NCBI-ProteinID: NP_955630
OMIM: 114205
HGNC: 1390
Ensembl: ENSG00000151067
Vega: OTTHUMG00000150243
Pharos: Q13936(Tclin)
UniProt: Q13936 Q5V9X9 Q59GU3
Structure
PDB: 

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
hsa04010  MAPK signaling pathway
hsa04020  Calcium signaling pathway
hsa04022  cGMP-PKG signaling pathway
hsa04024  cAMP signaling pathway
hsa04218  Cellular senescence
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04270  Vascular smooth muscle contraction
hsa04530  Tight junction
hsa04713  Circadian entrainment
hsa04723  Retrograde endocannabinoid signaling
hsa04724  Glutamatergic synapse
hsa04725  Cholinergic synapse
hsa04726  Serotonergic synapse
hsa04727  GABAergic synapse
hsa04728  Dopaminergic synapse
hsa04911  Insulin secretion
hsa04912  GnRH signaling pathway
hsa04921  Oxytocin signaling pathway
hsa04924  Renin secretion
hsa04925  Aldosterone synthesis and secretion
hsa04927  Cortisol synthesis and secretion
hsa04929  GnRH secretion
hsa04930  Type II diabetes mellitus
hsa04934  Cushing syndrome
hsa04973  Carbohydrate digestion and absorption
hsa05010  Alzheimer disease
hsa05031  Amphetamine addiction
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
Network
nt06316  Angiotensin-aldosterone signaling
  Element
N00302  Mutation-activated CACNA1D/H to angiotensin-aldosterone signaling pathway
N00303  Mutation-activated KCNJ5 to angiotensin-aldosterone signaling pathway
N00304  Mutation-inactivated ATP1A1 to angiotensin-aldosterone signaling pathway
Disease
H01603  Primary aldosteronism
Drug target
Amlodipine (DG00322): D00615 D02914 D07450
Aranidipine: D01562
Azelnidipine: D01145
Barnidipine (DG00325): D01104 D07494
Belfosdil: D03067
Benidipine (DG00327): D02045 D07509
Bepridil (DG00333): D00631 D07520
Bevantolol: D01369
Cilnidipine: D01173
Clentiazem maleate: D03536
Clevidipine: D08892
Darodipine: D03655
Diltiazem (DG00331): D00616 D03830 D07845
Dronedarone (DG00207): D02537 D03914
Efonidipine (DG01382): D01604 D07886
Etripamil: D10932
Felodipine: D00319
Fendiline (DG00332): D07185 D07943
Flordipine: D04193
Fostedil: D04260
Gallopamil (DG00330): D01969 D08009
Isradipine: D00349
Kirenidipine hydrochloride: D09789
Lacidipine: D04657
Lemildipine: D01151
Lercanidipine (DG00326): D01849 D08111
Levosemotiadil fumarate: D09833
Manidipine (DG00324): D01553 D08155
Mibefradil (DG00328): D05024 D08217
Monatepil maleate: D01171
Nicardipine (DG00323): D00617 D08270
Nifedipine: D00437
Nilvadipine: D01908
Nimodipine: D00438
Nisoldipine: D00618
Nitrendipine: D00629
Paramethadione: D00495
Perhexiline (DG00334): D05442 D08340
Propiverine (DG00479): D01007 D08441
Tamolarizine hydrochloride: D11102
Tiapamil hydrochloride: D06129
Topiramate: D00537
Vatanidipine hydrochloride: D01933
Verapamil (DG00329): D00619 D02356
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 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)
 09140 Cellular Processes
  09143 Cell growth and death
   04218 Cellular senescence
    776 (CACNA1D)
  09144 Cellular community - eukaryotes
   04530 Tight junction
    776 (CACNA1D)
 09150 Organismal Systems
  09152 Endocrine system
   04911 Insulin secretion
    776 (CACNA1D)
   04929 GnRH 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)
   04927 Cortisol synthesis and secretion
    776 (CACNA1D)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    776 (CACNA1D)
   04261 Adrenergic signaling in cardiomyocytes
    776 (CACNA1D)
   04270 Vascular smooth muscle contraction
    776 (CACNA1D)
  09154 Digestive system
   04973 Carbohydrate digestion and absorption
    776 (CACNA1D)
  09156 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)
  09159 Environmental adaptation
   04713 Circadian entrainment
    776 (CACNA1D)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    776 (CACNA1D)
  09165 Substance dependence
   05031 Amphetamine addiction
    776 (CACNA1D)
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy (HCM)
    776 (CACNA1D)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    776 (CACNA1D)
   05414 Dilated cardiomyopathy (DCM)
    776 (CACNA1D)
  09167 Endocrine and metabolic disease
   04930 Type II diabetes mellitus
    776 (CACNA1D)
   04934 Cushing syndrome
    776 (CACNA1D)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    776 (CACNA1D)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   776 (CACNA1D)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Ion_trans CAC1F_C Ca_chan_IQ GPHH PKD_channel Rer1
Motif
Other DBs
NCBI-GeneID: 776
NCBI-ProteinID: NP_001122312
OMIM: 114206
HGNC: 1391
Ensembl: ENSG00000157388
Vega: OTTHUMG00000158278
Pharos: Q01668(Tclin)
UniProt: Q01668 Q59GD8
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): 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
hsa04010  MAPK signaling pathway
hsa04020  Calcium signaling pathway
hsa04022  cGMP-PKG signaling pathway
hsa04024  cAMP signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04270  Vascular smooth muscle contraction
hsa04723  Retrograde endocannabinoid signaling
hsa04725  Cholinergic synapse
hsa04726  Serotonergic synapse
hsa04727  GABAergic synapse
hsa04911  Insulin secretion
hsa04912  GnRH signaling pathway
hsa04921  Oxytocin signaling pathway
hsa04924  Renin secretion
hsa04925  Aldosterone synthesis and secretion
hsa04927  Cortisol synthesis and secretion
hsa04929  GnRH secretion
hsa04934  Cushing syndrome
hsa05010  Alzheimer disease
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
Disease
H00481  Cone-rod dystrophy and cone dystrophy
H00690  Aland Island eye disease
H00787  Congenital stationary night blindness
Drug target
Amlodipine (DG00322): D00615 D02914 D07450
Aranidipine: D01562
Azelnidipine: D01145
Barnidipine (DG00325): D01104 D07494
Belfosdil: D03067
Benidipine (DG00327): D02045 D07509
Bepridil (DG00333): D00631 D07520
Bevantolol: D01369
Cilnidipine: D01173
Clentiazem maleate: D03536
Clevidipine: D08892
Darodipine: D03655
Diltiazem (DG00331): D00616 D03830 D07845
Dronedarone (DG00207): D02537 D03914
Efonidipine (DG01382): D01604 D07886
Etripamil: D10932
Felodipine: D00319
Fendiline (DG00332): D07185 D07943
Flordipine: D04193
Fostedil: D04260
Gallopamil (DG00330): D01969 D08009
Isradipine: D00349
Kirenidipine hydrochloride: D09789
Lacidipine: D04657
Lemildipine: D01151
Lercanidipine (DG00326): D01849 D08111
Levosemotiadil fumarate: D09833
Manidipine (DG00324): D01553 D08155
Mibefradil (DG00328): D05024 D08217
Monatepil maleate: D01171
Nicardipine (DG00323): D00617 D08270
Nifedipine: D00437
Nilvadipine: D01908
Nimodipine: D00438
Nisoldipine: D00618
Nitrendipine: D00629
Paramethadione: D00495
Perhexiline (DG00334): D05442 D08340
Propiverine (DG00479): D01007 D08441
Tamolarizine hydrochloride: D11102
Tiapamil hydrochloride: D06129
Topiramate: D00537
Vatanidipine hydrochloride: D01933
Verapamil (DG00329): D00619 D02356
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 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)
 09150 Organismal Systems
  09152 Endocrine system
   04911 Insulin secretion
    778 (CACNA1F)
   04929 GnRH 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)
   04927 Cortisol synthesis and secretion
    778 (CACNA1F)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    778 (CACNA1F)
   04261 Adrenergic signaling in cardiomyocytes
    778 (CACNA1F)
   04270 Vascular smooth muscle contraction
    778 (CACNA1F)
  09156 Nervous system
   04727 GABAergic synapse
    778 (CACNA1F)
   04725 Cholinergic synapse
    778 (CACNA1F)
   04726 Serotonergic synapse
    778 (CACNA1F)
   04723 Retrograde endocannabinoid signaling
    778 (CACNA1F)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    778 (CACNA1F)
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy (HCM)
    778 (CACNA1F)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    778 (CACNA1F)
   05414 Dilated cardiomyopathy (DCM)
    778 (CACNA1F)
  09167 Endocrine and metabolic disease
   04934 Cushing syndrome
    778 (CACNA1F)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    778 (CACNA1F)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   778 (CACNA1F)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Ion_trans CAC1F_C Ca_chan_IQ GPHH PKD_channel
Motif
Other DBs
NCBI-GeneID: 778
NCBI-ProteinID: NP_005174
OMIM: 300110
HGNC: 1393
Ensembl: ENSG00000102001
Vega: OTTHUMG00000022703
Pharos: O60840(Tchem)
UniProt: O60840
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
hsa04010  MAPK signaling pathway
hsa04020  Calcium signaling pathway
hsa04022  cGMP-PKG signaling pathway
hsa04024  cAMP signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04270  Vascular smooth muscle contraction
hsa04723  Retrograde endocannabinoid signaling
hsa04725  Cholinergic synapse
hsa04726  Serotonergic synapse
hsa04727  GABAergic synapse
hsa04911  Insulin secretion
hsa04912  GnRH signaling pathway
hsa04921  Oxytocin signaling pathway
hsa04924  Renin secretion
hsa04925  Aldosterone synthesis and secretion
hsa04927  Cortisol synthesis and secretion
hsa04929  GnRH secretion
hsa04934  Cushing syndrome
hsa05010  Alzheimer disease
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
Disease
H00215  Periodic paralysis
H00746  Hypokalemic periodic paralysis (HypoPP)
Drug target
Amlodipine (DG00322): D00615 D02914 D07450
Aranidipine: D01562
Azelnidipine: D01145
Barnidipine (DG00325): D01104 D07494
Belfosdil: D03067
Benidipine (DG00327): D02045 D07509
Bepridil (DG00333): D00631 D07520
Bevantolol: D01369
Cilnidipine: D01173
Clentiazem maleate: D03536
Clevidipine: D08892
Darodipine: D03655
Diltiazem (DG00331): D00616 D03830 D07845
Dronedarone (DG00207): D02537 D03914
Efonidipine (DG01382): D01604 D07886
Etripamil: D10932
Felodipine: D00319
Fendiline (DG00332): D07185 D07943
Flordipine: D04193
Fostedil: D04260
Gallopamil (DG00330): D01969 D08009
Isradipine: D00349
Kirenidipine hydrochloride: D09789
Lacidipine: D04657
Lemildipine: D01151
Lercanidipine (DG00326): D01849 D08111
Levosemotiadil fumarate: D09833
Manidipine (DG00324): D01553 D08155
Mibefradil (DG00328): D05024 D08217
Monatepil maleate: D01171
Nicardipine (DG00323): D00617 D08270
Nifedipine: D00437
Nilvadipine: D01908
Nimodipine: D00438
Nisoldipine: D00618
Nitrendipine: D00629
Paramethadione: D00495
Perhexiline (DG00334): D05442 D08340
Pinaverium: D07094
Propiverine (DG00479): D01007 D08441
Tamolarizine hydrochloride: D11102
Tiapamil hydrochloride: D06129
Topiramate: D00537
Vatanidipine hydrochloride: D01933
Verapamil (DG00329): D00619 D02356
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 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)
 09150 Organismal Systems
  09152 Endocrine system
   04911 Insulin secretion
    779 (CACNA1S)
   04929 GnRH 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)
   04927 Cortisol synthesis and secretion
    779 (CACNA1S)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    779 (CACNA1S)
   04261 Adrenergic signaling in cardiomyocytes
    779 (CACNA1S)
   04270 Vascular smooth muscle contraction
    779 (CACNA1S)
  09156 Nervous system
   04727 GABAergic synapse
    779 (CACNA1S)
   04725 Cholinergic synapse
    779 (CACNA1S)
   04726 Serotonergic synapse
    779 (CACNA1S)
   04723 Retrograde endocannabinoid signaling
    779 (CACNA1S)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    779 (CACNA1S)
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy (HCM)
    779 (CACNA1S)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    779 (CACNA1S)
   05414 Dilated cardiomyopathy (DCM)
    779 (CACNA1S)
  09167 Endocrine and metabolic disease
   04934 Cushing syndrome
    779 (CACNA1S)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    779 (CACNA1S)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   779 (CACNA1S)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Ion_trans Ca_chan_IQ GPHH PKD_channel CAC1F_C
Motif
Other DBs
NCBI-GeneID: 779
NCBI-ProteinID: NP_000060
OMIM: 114208
HGNC: 1397
Ensembl: ENSG00000081248
Vega: OTTHUMG00000035784
Pharos: Q13698(Tchem)
UniProt: Q13698
Structure
PDB: 

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
hsa04010  MAPK signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04921  Oxytocin signaling pathway
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
Drug target
Gabapentin (DG01245): D00332 D09539
Mirogabalin (DG02947): D10790 D11203
Pregabalin: D02716
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    781 (CACNA2D1)
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    781 (CACNA2D1)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    781 (CACNA2D1)
   04261 Adrenergic signaling in cardiomyocytes
    781 (CACNA2D1)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy (HCM)
    781 (CACNA2D1)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    781 (CACNA2D1)
   05414 Dilated cardiomyopathy (DCM)
    781 (CACNA2D1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    781 (CACNA2D1)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   781 (CACNA2D1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: VGCC_alpha2 VWA_N VWA VWA_3 dCache_1 VWA_2 IFN-gamma
Motif
Other DBs
NCBI-GeneID: 781
NCBI-ProteinID: NP_000713
OMIM: 114204
HGNC: 1399
Ensembl: ENSG00000153956
Vega: OTTHUMG00000023622
Pharos: P54289(Tclin)
UniProt: P54289
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
hsa04010  MAPK signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04921  Oxytocin signaling pathway
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    782 (CACNB1)
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    782 (CACNB1)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    782 (CACNB1)
   04261 Adrenergic signaling in cardiomyocytes
    782 (CACNB1)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy (HCM)
    782 (CACNB1)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    782 (CACNB1)
   05414 Dilated cardiomyopathy (DCM)
    782 (CACNB1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    782 (CACNB1)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   782 (CACNB1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Guanylate_kin VGCC_beta4Aa_N SH3_1 SH3_2
Motif
Other DBs
NCBI-GeneID: 782
NCBI-ProteinID: NP_000714
OMIM: 114207
HGNC: 1401
Ensembl: ENSG00000067191
Vega: OTTHUMG00000133217
Pharos: Q02641(Tdark)
UniProt: Q02641
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
hsa04010  MAPK signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04921  Oxytocin signaling pathway
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
Disease
H00728  Brugada syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    783 (CACNB2)
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    783 (CACNB2)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    783 (CACNB2)
   04261 Adrenergic signaling in cardiomyocytes
    783 (CACNB2)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy (HCM)
    783 (CACNB2)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    783 (CACNB2)
   05414 Dilated cardiomyopathy (DCM)
    783 (CACNB2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    783 (CACNB2)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   783 (CACNB2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Guanylate_kin VGCC_beta4Aa_N SH3_1 SH3_2
Motif
Other DBs
NCBI-GeneID: 783
NCBI-ProteinID: NP_963890
OMIM: 600003
HGNC: 1402
Ensembl: ENSG00000165995
Vega: OTTHUMG00000017764
Pharos: Q08289(Tbio)
UniProt: Q08289
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
hsa04010  MAPK signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04921  Oxytocin signaling pathway
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    784 (CACNB3)
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    784 (CACNB3)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    784 (CACNB3)
   04261 Adrenergic signaling in cardiomyocytes
    784 (CACNB3)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy (HCM)
    784 (CACNB3)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    784 (CACNB3)
   05414 Dilated cardiomyopathy (DCM)
    784 (CACNB3)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    784 (CACNB3)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   784 (CACNB3)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Guanylate_kin VGCC_beta4Aa_N SH3_1
Motif
Other DBs
NCBI-GeneID: 784
NCBI-ProteinID: NP_000716
OMIM: 601958
HGNC: 1403
Ensembl: ENSG00000167535
Vega: OTTHUMG00000170398
Pharos: P54284(Tbio)
UniProt: P54284
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
hsa04010  MAPK signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04921  Oxytocin signaling pathway
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
Disease
H00749  Episodic ataxias
H00808  Idiopathic generalized epilepsies
H02217  Juvenile myoclonic epilepsy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    785 (CACNB4)
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    785 (CACNB4)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    785 (CACNB4)
   04261 Adrenergic signaling in cardiomyocytes
    785 (CACNB4)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy (HCM)
    785 (CACNB4)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    785 (CACNB4)
   05414 Dilated cardiomyopathy (DCM)
    785 (CACNB4)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    785 (CACNB4)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   785 (CACNB4)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Guanylate_kin VGCC_beta4Aa_N SH3_1 SH3_2
Motif
Other DBs
NCBI-GeneID: 785
NCBI-ProteinID: NP_000717
OMIM: 601949
HGNC: 1404
Ensembl: ENSG00000182389
Vega: OTTHUMG00000155091
Pharos: O00305(Tbio)
UniProt: O00305
Structure
PDB: 

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
hsa04010  MAPK signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04921  Oxytocin signaling pathway
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    786 (CACNG1)
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    786 (CACNG1)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    786 (CACNG1)
   04261 Adrenergic signaling in cardiomyocytes
    786 (CACNG1)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy (HCM)
    786 (CACNG1)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    786 (CACNG1)
   05414 Dilated cardiomyopathy (DCM)
    786 (CACNG1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    786 (CACNG1)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   786 (CACNG1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Claudin_2 PMP22_Claudin Acyl_transf_3 DUF981 UL45
Motif
Other DBs
NCBI-GeneID: 786
NCBI-ProteinID: NP_000718
OMIM: 114209
HGNC: 1405
Ensembl: ENSG00000108878
Vega: OTTHUMG00000179553
Pharos: Q06432(Tbio)
UniProt: Q06432
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): 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
hsa04010  MAPK signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04921  Oxytocin signaling pathway
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
Drug target
Gabapentin (DG01245): D00332 D09539
Mirogabalin (DG02947): D10790 D11203
Pregabalin: D02716
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    9254 (CACNA2D2)
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    9254 (CACNA2D2)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    9254 (CACNA2D2)
   04261 Adrenergic signaling in cardiomyocytes
    9254 (CACNA2D2)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy (HCM)
    9254 (CACNA2D2)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    9254 (CACNA2D2)
   05414 Dilated cardiomyopathy (DCM)
    9254 (CACNA2D2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    9254 (CACNA2D2)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   9254 (CACNA2D2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: VGCC_alpha2 VWA_N VWA VWA_3 VWA_2 dCache_1 dCache_2 DUF5610 VWA_CoxE
Motif
Other DBs
NCBI-GeneID: 9254
NCBI-ProteinID: NP_001167522
OMIM: 607082
HGNC: 1400
Ensembl: ENSG00000007402
Vega: OTTHUMG00000156887
Pharos: Q9NY47(Tclin)
UniProt: Q9NY47
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
hsa04010  MAPK signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04921  Oxytocin signaling pathway
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
Disease
H00481  Cone-rod dystrophy and cone dystrophy
Drug target
Gabapentin (DG01245): D00332 D09539
Pregabalin: D02716
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    93589 (CACNA2D4)
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    93589 (CACNA2D4)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    93589 (CACNA2D4)
   04261 Adrenergic signaling in cardiomyocytes
    93589 (CACNA2D4)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy (HCM)
    93589 (CACNA2D4)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    93589 (CACNA2D4)
   05414 Dilated cardiomyopathy (DCM)
    93589 (CACNA2D4)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    93589 (CACNA2D4)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   93589 (CACNA2D4)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: VGCC_alpha2 VWA_N VWA_3 dCache_1 VWA VWA_2 VWA_CoxE CobT_C
Motif
Other DBs
NCBI-GeneID: 93589
NCBI-ProteinID: NP_758952
OMIM: 608171
HGNC: 20202
Ensembl: ENSG00000151062
Vega: OTTHUMG00000168111
Pharos: Q7Z3S7(Tbio)
UniProt: Q7Z3S7
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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