CACNA2D2

Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex consists of the main channel-forming subunit alpha-1, and auxiliary subunits alpha-2/delta, beta, and gamma. The auxiliary subunits function in the assembly and membrane localization of the complex, and modulate calcium currents and channel activation/inactivation kinetics. The subunit encoded by this gene undergoes post-translational cleavage to yield the extracellular alpha2 peptide and a membrane-anchored delta polypeptide. This subunit is a receptor for the antiepileptic drug, gabapentin. Mutations in this gene are associated with early infantile epileptic encephalopathy. Single nucleotide polymorphisms in this gene are correlated with increased sensitivity to opioid drugs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

Description

Calcium voltage-gated channel auxiliary subunit alpha2delta 2

Tissue specificity

Tissue enriched (lung)

Subcell location

Vesicles

Predicted location

Intracellular

Protein family

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

Chromosome

3 (50362613 - 50504244)

Ensembl ID

ENSG00000007402  (ver. 103.38)

Orthologs

Mouse Cacna2d2: ENSMUSG00000010066

UniProt

Q9NY47

neXtProt

NX_Q9NY47

Human splice variants
Mouse splice variants

Protein structure