KEGG T01001: 781

Homo sapiens (human): 781

Entry

781 CDS T01001

Gene name

CACNA2D1, CACNA2, CACNL2A, CCHL2A, MHS3

Definition

calcium channel, voltage-dependent, alpha 2/delta subunit 1

Orthology

K04858

voltage-dependent calcium channel alpha-2/delta-1

Organism

hsa Homo sapiens (human)

Pathway

hsa04010	MAPK signaling pathway
hsa04260	Cardiac muscle contraction
hsa05410	Hypertrophic cardiomyopathy (HCM)
hsa05412	Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414	Dilated cardiomyopathy

Drug target

Gabapentin:

D00332

Pregabalin:

D02716

Other:

D09539

Class

Environmental Information Processing; Signal transduction; MAPK signaling pathway [PATH:hsa04010]
Organismal Systems; Circulatory system; Cardiac muscle contraction [PATH:hsa04260]
Human Diseases; Cardiovascular diseases; Hypertrophic cardiomyopathy (HCM) [PATH:hsa05410]
Human Diseases; Cardiovascular diseases; Arrhythmogenic right ventricular cardiomyopathy (ARVC) [PATH:hsa05412]
Human Diseases; Cardiovascular diseases; Dilated cardiomyopathy (DCM) [PATH:hsa05414]

SSDB

Motif

Pfam:

VGCC_alpha2 VWA_N Cache_1 VWA VWA_2 VWA_3 Cache_2 DUF2201 DUF808

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

UniProt:

Position

7q21-q22

AA seq 1091 aa
MAAGCLLALTLTLFQSLLIGPSSEEPFPSAVTIKSWVDKMQEDLVTLAKTASGVNQLVDI
YEKYQDLYTVEPNNARQLVEIAARDIEKLLSNRSKALVRLALEAEKVQAAHQWREDFASN
EVVYYNAKDDLDPEKNDSEPGSQRIKPVFIEDANFGRQISYQHAAVHIPTDIYEGSTIVL
NELNWTSALDEVFKKNREEDPSLLWQVFGSATGLARYYPASPWVDNSRTPNKIDLYDVRR
RPWYIQGAASPKDMLILVDVSGSVSGLTLKLIRTSVSEMLETLSDDDFVNVASFNSNAQD
VSCFQHLVQANVRNKKVLKDAVNNITAKGITDYKKGFSFAFEQLLNYNVSRANCNKIIML
FTDGGEERAQEIFNKYNKDKKVRVFTFSVGQHNYDRGPIQWMACENKGYYYEIPSIGAIR
INTQEYLDVLGRPMVLAGDKAKQVQWTNVYLDALELGLVITGTLPVFNITGQFENKTNLK
NQLILGVMGVDVSLEDIKRLTPRFTLCPNGYYFAIDPNGYVLLHPNLQPKNPKSQEPVTL
DFLDAELENDIKVEIRNKMIDGESGEKTFRTLVKSQDERYIDKGNRTYTWTPVNGTDYSL
ALVLPTYSFYYIKAKLEETITQARSKKGKMKDSETLKPDNFEESGYTFIAPRDYCNDLKI
SDNNTEFLLNFNEFIDRKTPNNPSCNADLINRVLLDAGFTNELVQNYWSKQKNIKGVKAR
FVVTDGGITRVYPKEAGENWQENPETYEDSFYKRSLDNDNYVFTAPYFNKSGPGAYESGI
MVSKAVEIYIQGKLLKPAVVGIKIDVNSWIENFTKTSIRDPCAGPVCDCKRNSDVMDCVI
LDDGGFLLMANHDDYTNQIGRFFGEIDPSLMRHLVNISVYAFNKSYDYQSVCEPGAAPKQ
GAGHRSAYVPSVADILQIGWWATAAAWSILQQFLLSLTFPRLLEAVEMEDDDFTASLSKQ
SCITEQTQYFFDNDSKSFSGVLDCGNCSRIFHGEKLMNTNLIFIMVESKGTCPCDTRLLI
QAEQTSDGPNPCDMVKQPRYRKGPDVCFDNNVLEDYTDCGGVSGLNPSLWYIIGIQFLLL
WLVSGSTHRLL

NT seq 3276 nt +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

All links

Ontology (4)   
   KEGG BRITE (4)   
Pathway (5)   
   KEGG PATHWAY (5)   
Disease (1)   
   OMIM (1)   
Drug (3)   
   KEGG DRUG (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (12)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (5)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
Protein sequence (2)   
   UniProt (1)   
   RefSeq(pep) (1)   
DNA sequence (19)   
   RefSeq(nuc) (1)   
   GenBank (9)   
   EMBL (9)   
Protein domain (9)   
   Pfam (9)   
All databases (56)   

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