Gene: CACNA2D4

Alternate names for this Gene: RCD4

Gene Summary: This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized.

Gene is located in Chromosome: 12

Location in Chromosome : 12p13.33

Description of this Gene: calcium voltage-gated channel auxiliary subunit alpha2delta 4

Type of Gene: protein-coding

rs2286379 in CACNA2D4 gene and Systolic Pressure PMID 25189868 2015 Gene-smoking interactions identify several novel blood pressure loci in the Framingham Heart Study.

rs4766424 in CACNA2D4 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.