Aliases for CACNB2 Gene
External Ids for CACNB2 Gene
Previous HGNC Symbols for CACNB2 Gene
Previous GeneCards Identifiers for CACNB2 Gene
This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013]
GeneCards Summary for CACNB2 Gene
CACNB2 (Calcium Voltage-Gated Channel Auxiliary Subunit Beta 2) is a Protein Coding gene. Diseases associated with CACNB2 include Brugada Syndrome 4 and Brugada Syndrome. Among its related pathways are Oxytocin signaling pathway and CCR5 Pathway in Macrophages. Gene Ontology (GO) annotations related to this gene include calcium channel activity and high voltage-gated calcium channel activity. An important paralog of this gene is CACNB1.
UniProtKB/Swiss-Prot Summary for CACNB2 Gene
The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting.