KEGG   Homo sapiens (human): 93589Help
Entry
93589             CDS       T01001                                 

Gene name
CACNA2D4, RCD4
Definition
calcium channel, voltage-dependent, alpha 2/delta subunit 4
Orthology
K04861  
voltage-dependent calcium channel alpha-2/delta-4
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
Cardiac muscle contraction
Adrenergic signaling in cardiomyocytes
Oxytocin signaling pathway
Hypertrophic cardiomyopathy (HCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Dilated cardiomyopathy
Disease
H00481  
Cone-rod dystrophy and cone dystrophy
Drug target
Gabapentin: 
Pregabalin: 
Other: 
Class
Environmental Information Processing; Signal transduction; MAPK signaling pathway [PATH:hsa04010]
Organismal Systems; Endocrine system; Oxytocin signaling pathway [PATH:hsa04921]
Organismal Systems; Circulatory system; Cardiac muscle contraction [PATH:hsa04260]
Organismal Systems; Circulatory system; Adrenergic signaling in cardiomyocytes [PATH:hsa04261]
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]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
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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