CACNA2D1, Official Symbol CACNA2D1provided by HGNC Official Full Name calcium voltage-gated channel auxiliary subunit alpha2delta 1provided by HGNC Primary source HGNC:HGNC:1399 See related Ensembl:ENSG00000153956 MIM:114204; AllianceGenome:HGNC:1399 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CACNA2; CCHL2A; DEE110; CACNL2A; LINC01112; lncRNA-N3 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. [provided by RefSeq, Nov 2014] Expression Broad expression in brain (RPKM 8.0), heart (RPKM 5.6) and 21 other tissues See more Orthologs mouse all