CACNA2D2

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, encoding different isoforms, have been characterized. [provided by RefSeq]

Full Name

calcium channel, voltage-dependent, alpha 2/delta subunit 2

Function

The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q-type calcium channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) and possibly T-type (CACNA1G) (PubMed:15111129, PubMed:23339110).
Overexpression induces apoptosis.

Biological Process

Cardiac conduction Source: Reactome
Regulation of insulin secretion Source: Reactome
Regulation of ion transmembrane transport Source: UniProtKB-KW

Cellular Location

Membrane. Colocalizes with CACNA1A in lipid raft fractions.

Involvement in disease

Cerebellar atrophy with seizures and variable developmental delay (CASVDD): An autosomal recessive neurologic disorder characterized by cerebellar ataxia, atrophy of the cerebellar vermis, severe refractory seizures with early onset, and global developmental delay compatible with epileptic encephalopathy in most patients. Disease severity is variable and normal cognitive development has also been reported.

Topology

Extracellular: 19-1113 aa
Helical: 1114-1134 aa
Cytoplasmic: 1135-1150 aa

PTM

May be proteolytically processed into subunits alpha-2-2 and delta-2 that are disulfide-linked. It is however unclear whether such cleavage really takes place in vivo and has a functional role (By similarity).