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 besylate: D10790
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
  09165 Cardiovascular diseases
   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

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