CACNB2

CACNB2

A gene on chromosome 10p12 that encodes a beta subunit of a voltage-dependent L-type calcium channel which, like other beta subunits, contributes to calcium-channel function by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation.

Molecular pathology
The gene product was first identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. CACNB2 mutations are associated with Brugada symdrome, type 4.
References in periodicals archive ?
CACNB2 Calcium channel, voltage-dependent, beta 2 -3.
4] A recent cross-disorder genomewide association study found similar genetic sensitivities in these five diagnostically distinct disorders on regions of chromosomes 3p21 and 10q24 and single-nucleotide polymorphisms (SNPs) within two genes that encode L-type voltage-gated calcium channel subunits, CACNA1C and CACNB2.
Associations between schizophrenia and genes that encode voltage-gated calcium channel subunits, including CACNA1C, CACNB2, and CACNA11, also were observed.
This pathway includes the genes CACNA1C and CACNB2, whose proteins touch each other as part of an important process in nerve cells.
Variation in another calcium channel gene, called CACNB2, was also linked to the five disorders.
1) The specific genetic link across those 5 disorders, identified by a commonly used genetic method called a genome-wide association study (GWAS), was a set of 4 risk loci on chromosomes 3 and 10, as well as a single nucleotide polymorphism (SNP) of 2 genes called calcium channel [alpha]-1C (CACNA1C) and CACNB2, both of which are involved in neuronal calcium channel signaling.
For example, the identified shared genetic variations on SNPs within two L-type voltage-gated calcium channel subunits of CACNA1C and CACNB2 for five diagnostically separate mental illnesses [2] may only indicate that one step in the long pathological process for the conditions is shared.