KEGG   Homo sapiens (human): 781
Entry
781               CDS       T01001                                 
Symbol
CACNA2D1, CACNA2, CACNL2A, CCHL2A, DEE110, LINC01112, lncRNA-N3, MHS3
Name
(RefSeq) voltage-dependent calcium channel subunit alpha-2/delta-1 isoform 3 preproprotein
  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
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
Network
nt06528  Calcium signaling
  Element
N01637  Ca2+ entry, Voltage-gated Ca2+ channel
N01638  Skeletal-type VGCC-RYR signaling
N01639  Cardiac-type VGCC-RYR signaling
Disease
H00606  Early infantile epileptic encephalopathy
Drug target
Gabapentin (DG01245): D00332<JP/US> D09539<JP/US>
Mirogabalin (DG02947): D10790<JP> D11203
Pregabalin: D02716<JP/US>
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
    781 (CACNA2D1)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    781 (CACNA2D1)
   05414 Dilated cardiomyopathy
    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)
SSDB
Motif
Pfam: VGCC_alpha2 VWA_N CACHD1_middle VWA VWA_3 VWA_2 dCache_1 MCP-like_PDC_1 PM1201 IFN-gamma
Other DBs
NCBI-GeneID: 781
NCBI-ProteinID: NP_001353796
OMIM: 114204
HGNC: 1399
UniProt: P54289
Structure
LinkDB
Position
7:complement(81946444..82443956)
AA seq 1103 aa
MAAGCLLALTLTLFQSLLIGPSSEEPFPSAVTIKSWVDKMQEDLVTLAKTASGVNQLVDI
YEKYQDLYTVEPNNARQLVEIAARDIEKLLSNRSKALVRLALEAEKVQAAHQWREDFASN
EVVYYNAKDDLDPEKNDSEPGSQRIKPVFIEDANFGRQISYQHAAVHIPTDIYEGSTIVL
NELNWTSALDEVFKKNREEDPSLLWQVFGSATGLARYYPASPWVDNSRTPNKIDLYDVRR
RPWYIQGAASPKDMLILVDVSGSVSGLTLKLIRTSVSEMLETLSDDDFVNVASFNSNAQD
VSCFQHLVQANVRNKKVLKDAVNNITAKGITDYKKGFSFAFEQLLNYNVSRANCNKIIML
FTDGGEERAQEIFNKYNKDKKVRVFTFSVGQHNYDRGPIQWMACENKGYYYEIPSIGAIR
INTQEYLDVLGRPMVLAGDKAKQVQWTNVYLDALELGLVITGTLPVFNITGQFENKTNLK
NQLILGVMGVDVSLEDIKRLTPRFTLCPNGYYFAIDPNGYVLLHPNLQPKPIGVGIPTIN
LRKRRPNIQNPKSQEPVTLDFLDAELENDIKVEIRNKMIDGESGEKTFRTLVKSQDERYI
DKGNRTYTWTPVNGTDYSLALVLPTYSFYYIKAKLEETITQARYSETLKPDNFEESGYTF
IAPRDYCNDLKISDNNTEFLLNFNEFIDRKTPNNPSCNADLINRVLLDAGFTNELVQNYW
SKQKNIKGVKARFVVTDGGITRVYPKEAGENWQENPETYEDSFYKRSLDNDNYVFTAPYF
NKSGPGAYESGIMVSKAVEIYIQGKLLKPAVVGIKIDVNSWIENFTKTSIRDPCAGPVCD
CKRNSDVMDCVILDDGGFLLMANHDDYTNQIGRFFGEIDPSLMRHLVNISVYAFNKSYDY
QSVCEPGAAPKQGAGHRSAYVPSVADILQIGWWATAAAWSILQQFLLSLTFPRLLEAVEM
EDDDFTASLSKQSCITEQTQYFFDNDSKSFSGVLDCGNCSRIFHGEKLMNTNLIFIMVES
KGTCPCDTRLLIQAEQTSDGPNPCDMVKQPRYRKGPDVCFDNNVLEDYTDCGGVSGLNPS
LWYIIGIQFLLLWLVSGSTHRLL
NT seq 3312 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
gttttattacatccaaatcttcagccaaagcctattggtgtaggtataccaacaattaat
ttaagaaaaaggagacccaatatccagaaccccaaatctcaggagccagtaacattggat
ttccttgatgcagagttagagaatgatattaaagtggagattcgaaataagatgattgat
ggggaaagtggagaaaaaacattcagaactctggttaaatctcaagatgagagatatatt
gacaaaggaaacaggacatacacatggacacctgtcaatggcacagattacagtttggcc
ttggtattaccaacctacagtttttactatataaaagccaaactagaagagacaataact
caggccagatattcggaaaccctgaagccagataattttgaagaatctggctatacattc
atagcaccaagagattactgcaatgacctgaaaatatcggataataacactgaatttctt
ttaaatttcaacgagtttattgatagaaaaactccaaacaacccatcatgtaacgcggat
ttgattaatagagtcttgcttgatgcaggctttacaaatgaacttgtccaaaattactgg
agtaagcagaaaaatatcaagggagtgaaagcacgatttgttgtgactgatggtgggatt
accagagtttatcccaaagaggctggagaaaattggcaagaaaacccagagacatatgag
gacagcttctataaaaggagcctagataatgataactatgttttcactgctccctacttt
aacaaaagtggacctggtgcctatgaatcgggcattatggtaagcaaagctgtagaaata
tatattcaagggaaacttcttaaacctgcagttgttggaattaaaattgatgtaaattcc
tggatagagaatttcaccaaaacctcaatcagagatccgtgtgctggtccagtttgtgac
tgcaaaagaaacagtgacgtaatggattgtgtgattctggatgatggtgggtttcttctg
atggcaaatcatgatgattatactaatcagattggaagattttttggagagattgatccc
agcttgatgagacacctggttaatatatcagtttatgcttttaacaaatcttatgattat
cagtcagtatgtgagcccggtgctgcaccaaaacaaggagcaggacatcgctcagcatat
gtgccatcagtagcagacatattacaaattggctggtgggccactgctgctgcctggtct
attctacagcagtttctcttgagtttgacctttccacgactccttgaggcagttgagatg
gaggatgatgacttcacggcctccctgtccaagcagagctgcattactgaacaaacccag
tatttcttcgataacgacagtaaatcattcagtggtgtattagactgtggaaactgttcc
agaatctttcatggagaaaagcttatgaacaccaacttaatattcataatggttgagagc
aaagggacatgtccatgtgacacacgactgctcatacaagcggagcagacttctgacggt
ccaaatccttgtgacatggttaagcaacccagataccgaaaagggcctgatgtctgcttt
gataacaatgtcttggaggattatactgactgtggtggtgtttctggattaaatccctcc
ctgtggtatatcattggaatccagtttctactactttggctggtatctggcagcacacac
cgcctgttatga

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