Aliases for CACNA2D2 Gene
External Ids for CACNA2D2 Gene
Previous GeneCards Identifiers for CACNA2D2 Gene
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]
GeneCards Summary for CACNA2D2 Gene
CACNA2D2 (Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 2) is a Protein Coding gene. Diseases associated with CACNA2D2 include Cerebellar Atrophy With Seizures And Variable Developmental Delay and Early Infantile Epileptic Encephalopathy. Among its related pathways are Integrin Pathway and Integration of energy metabolism. Gene Ontology (GO) annotations related to this gene include voltage-gated calcium channel activity and calcium channel regulator activity. An important paralog of this gene is CACNA2D1.
UniProtKB/Swiss-Prot Summary for CACNA2D2 Gene
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.