CACNA2D4

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. [provided by RefSeq, Jul 2008]

Description

Calcium voltage-gated channel auxiliary subunit alpha2delta 4

Tissue specificity

Tissue enriched (retina)

Predicted location

Intracellular, Membrane

Protein family

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

Chromosome

12 (1791963 - 1918666)

Ensembl ID

ENSG00000151062  (ver. 103.38)

Orthologs

Mouse Cacna2d4: ENSMUSG00000041460

UniProt

Q7Z3S7

neXtProt

NX_Q7Z3S7

Human splice variants
Mouse splice variants

Protein structure