CACNB2 gene

calcium voltage-gated channel auxiliary subunit beta 2

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Brugada syndrome 4

From UniProt:

Brugada syndrome 4 (BRGDA4): A heart disease characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is a tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. [MIM:611876]

Cytogenetic Location: 10p12, which is the short (p) arm of chromosome 10 at position 12

Molecular Location: base pairs 18,140,560 to 18,545,881 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10p12, which is the short (p) arm of chromosome 10 at position 12
  • CACNLB2
  • CAVB2
  • MYSB