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Gene : CACNB4 Homo sapiens

Name  ? calcium voltage-gated channel auxiliary subunit beta 4 Cytological Location  2q23.3
Brief Description  calcium voltage-gated channel auxiliary subunit beta 4
Description  This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME), and episodic ataxia, type 5. [provided by RefSeq, Aug 2016]
  • synonyms:
  • OTTHUMG00000155091,
  • HGNC:1404,
  • AF038852,
  • uc002txy.5,
  • CACNLB4,
  • EJM,
  • EJM4,
  • NM_000726.3,
  • CACNB4,
  • EA5,
  • calcium channel, voltage-dependent, beta 4 subunit,
  • EJM6,
  • CAB4,
  • EIG9,
  • EJM4
  • identifiers:
  • 785,
  • ENSG00000182389,
  • CACNB4

Genome feature

Region: gene ? Length: 266397  
Location: 2:151832771-152099167 reverse strand Cyto location: 2q23.3

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2 Diseases

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3740 SNPs

5 Cross References

18 Data Sets

9 Homologues

0 Located Features

97 Rna Seq Results