CACNA2D1

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]

Description

Calcium voltage-gated channel auxiliary subunit alpha2delta 1

Tissue specificity

Tissue enhanced (skeletal muscle, tongue)

Predicted location

Intracellular, Membrane

Protein family

FDA approved drug targets
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

7 (81946444 - 82443777)

Ensembl ID

ENSG00000153956  (ver. 103.38)

Orthologs

Mouse Cacna2d1: ENSMUSG00000040118

UniProt

P54289

neXtProt

NX_P54289

Human splice variants
Mouse splice variants

Protein structure