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

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