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]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    93589 (CACNA2D4)
 Organismal Systems
  Endocrine system
   04921 Oxytocin signaling pathway
    93589 (CACNA2D4)
  Circulatory system
   04260 Cardiac muscle contraction
    93589 (CACNA2D4)
   04261 Adrenergic signaling in cardiomyocytes
    93589 (CACNA2D4)
 Human Diseases
  Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    93589 (CACNA2D4)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    93589 (CACNA2D4)
   05414 Dilated cardiomyopathy (DCM)
    93589 (CACNA2D4)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN alpha-2 delta
   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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