Gene: CACNA2D3

Alternate names for this Gene: HSA272268

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: 3

Location in Chromosome : 3p21.1-p14.3

Description of this Gene: calcium voltage-gated channel auxiliary subunit alpha2delta 3

Type of Gene: protein-coding

rs1868513 in CACNA2D3 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs13319916 in CACNA2D3 gene and Intelligence PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

rs11711040 in CACNA2D3 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.

rs139882217 in CACNA2D3 gene and Prostate carcinoma PMID 31095341 2020 Radiogenomics Consortium Genome-Wide Association Study Meta-Analysis of Late Toxicity After Prostate Cancer Radiotherapy.

rs56247223 in CACNA2D3 gene and Smoking PMID 28440896 2017 Genome-wide meta-analysis identifies a novel susceptibility signal at CACNA2D3 for nicotine dependence.

rs9853714 in CACNA2D3 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1562686 in CACNA2D3 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.