Gene: CACNA1B

Alternate names for this Gene: BIII|CACNL1A5|CACNN|Cav2.2|DYT23|NEDNEH

Gene Summary: The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.3

Description of this Gene: calcium voltage-gated channel subunit alpha1 B

Type of Gene: protein-coding

rs770303517 in CACNA1B gene and Body mass index PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

rs10780196 in CACNA1B gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs7036881 in CACNA1B gene and Schizophrenia PMID 27846195 2017 Genome-wide association study of paliperidone efficacy.