KEGG   Homo sapiens (human): 785Help
Entry
785               CDS       T01001                                 

Gene name
CACNB4, CAB4, CACNLB4, EA5, EIG9, EJM, EJM4, EJM6
Definition
(RefSeq) calcium voltage-gated channel auxiliary subunit beta 4
  KO
K04865  voltage-dependent calcium channel beta-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
H00749  Episodic ataxias
H00808  Idiopathic generalized epilepsies (IGEs)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    785 (CACNB4)
 Organismal Systems
  Endocrine system
   04921 Oxytocin signaling pathway
    785 (CACNB4)
  Circulatory system
   04260 Cardiac muscle contraction
    785 (CACNB4)
   04261 Adrenergic signaling in cardiomyocytes
    785 (CACNB4)
 Human Diseases
  Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    785 (CACNB4)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    785 (CACNB4)
   05414 Dilated cardiomyopathy (DCM)
    785 (CACNB4)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ca2+ channel, CACN beta
   785 (CACNB4)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Guanylate_kin VGCC_beta4Aa_N SH3_1 SH3_9 SH3_2
Motif
Other DBs
NCBI-GeneID: 785
NCBI-ProteinID: NP_000717
OMIM: 601949
HGNC: 1404
Ensembl: ENSG00000182389
Vega: OTTHUMG00000155091
Pharos: O00305(Tbio)
UniProt: O00305
Structure
PDB: 

Jmol
Position
2q23.3
AA seq 520 aa AA seqDB search
MSSSSYAKNGTADGPHSPTSQVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPS
DSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISF
DAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNS
SSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQK
ALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIF
ELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQ
LVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGS
TALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQH
SRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL
NT seq 1563 nt NT seq  +upstreamnt  +downstreamnt
atgtcctcctcctcctacgccaagaacgggaccgcggacgggccgcactcccccacctcg
caggtggcccgaggcaccacaacccggaggagcaggttgaaaagatccgatggcagcacc
acttcgaccagcttcatcctcagacagggttcagcggattcctacacaagcaggccgtct
gactccgatgtctctttggaagaggaccgggaagcaattcgacaggagagagaacagcaa
gcagctatccagcttgagagagcaaagtccaaacctgtagcatttgccgtgaagacaaat
gtgagctactgcggcgccctggacgaggatgtgcctgttccaagcacagctatctccttt
gatgctaaagactttctacatattaaagagaaatataacaatgattggtggataggaagg
ctggtgaaagagggctgtgaaattggcttcattccaagtccactcagattggagaacata
cggatccagcaagaacaaaaaagaggacgttttcacggagggaaatcaagtggaaattct
tcttcaagtcttggagaaatggtatctgggacattccgagcaactcccacatcaacagca
aaacagaagcaaaaagtgacggagcacattcctccttacgatgttgtaccgtcaatgcgt
ccggtggtgttagtggggccgtcactgaaaggttacgaggtaacagacatgatgcagaaa
gccctctttgatttcctgaagcacaggtttgatgggaggatttcaataacgagagtgaca
gctgacatttctcttgctaagaggtctgtcctaaataatcccagcaagagagcaataatt
gaacgttcgaacacccggtccagcttagcggaagtacaaagtgaaattgaaagaatcttt
gagttggcaagatctttgcaactggttgttcttgatgcagacaccatcaatcacccagca
caacttataaagacttccttagcaccaattattgttcatgtaaaagtctcatctccaaag
gttttacagcggttgattaaatctagaggaaagtcacaaagtaaacacttgaatgttcaa
ctggtggcagctgataaacttgcacaatgccccccagaaatgtttgatgttatattggat
gaaaatcagcttgaggatgcatgtgaacatctaggggagtacctggaggcgtactggcgt
gccacccacacaaccagtagcacacccatgaccccgctgctgggaaggaatttgggctcc
acggcactctcaccatatcccacagcaatttctgggttacagagtcagcgaatgaggcac
agcaaccactccacagagaactctccaattgaaagacgaagtctaatgacctctgatgaa
aattatcacaatgaaagggctcggaagagtaggaaccgcttgtcttccagttctcagcat
agccgagatcattaccctcttgtggaagaagattaccctgactcataccaggacacttac
aaaccccataggaaccgaggatcacctgggggatatagccatgactcccgacataggctt
tga

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