Gene: CACNA2D1

Alternate names for this Gene: CACNA2|CACNL2A|CCHL2A|LINC01112|lncRNA-N3

Gene Summary: The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. Mutations in this gene can cause cardiac deficiencies, including Brugada syndrome and short QT syndrome. Alternate splicing results in multiple transcript variants, some of which may lack the delta subunit portion.

Gene is located in Chromosome: 7

Location in Chromosome : 7q21.11

Description of this Gene: calcium voltage-gated channel auxiliary subunit alpha2delta 1

Type of Gene: protein-coding

rs17156195 in CACNA2D1 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs17155782 in CACNA2D1 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.

rs17156280 in CACNA2D1 gene and Major Depressive Disorder PMID 26845276 2016 Genome-wide environment interaction between depressive state and stressful life events.

PMID 29317602 2018 Genome-wide meta-analyses of stratified depression in Generation Scotland and UK Biobank.

rs6942458 in CACNA2D1 gene and Polysomnography PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

rs17156195 in CACNA2D1 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs17156280 in CACNA2D1 gene and Unipolar Depression PMID 26845276 2016 Genome-wide environment interaction between depressive state and stressful life events.

rs138663667 in CACNA2D1 gene and Uveal melanoma PMID 31626034 2020 Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1.

rs6942458 in CACNA2D1 gene and heart rate PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.