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Protein Coding Gene : Cacnb2 calcium channel, voltage-dependent, beta 2 subunit

Primary Identifier  MGI:894644 Organism  mouse, laboratory
Chromosome  2 NCBI Gene Number  12296
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables actin filament binding activity and voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels. Acts upstream of or within chemical synaptic transmission and visual perception. Part of voltage-gated calcium channel complex. Is active in photoreceptor ribbon synapse. Is expressed in several structures, including alimentary system; brain; eye; genitourinary system; and heart. Human ortholog(s) of this gene implicated in Brugada syndrome 4; hypertension; and hypertrophic cardiomyopathy. Orthologous to human CACNB2 (calcium voltage-gated channel auxiliary subunit beta 2).
PHENOTYPE: Mice homozygous for a null allele exhibit lethality at E10.5 with growth retardation, abnormal yolk vasculature and abnormal cardiac development and function. [provided by MGI curators]
  • synonyms:
  • Cavbeta2,
  • MGI:3583767,
  • cDNA sequence BC056183,
  • calcium channel, B2 subunit,
  • Cchb2,
  • MGD-MRK-24068,
  • AW060387,
  • expressed sequence AW060387,
  • BC056183,
  • Cacnb2,
  • MGI:2139283,
  • calcium channel, voltage-dependent, beta 2 subunit,
  • MGI:103200

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