CACNA2D2

calcium voltage-gated channel auxiliary subunit alpha2delta 2

Summary

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]

Known Variants975 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14875594343:50,402,098C/T—likely benign
rs3763004573:50,402,105G/A—uncertain significance
rs13010992893:50,402,106G/T—likely benign
rs17041162453:50,402,112G/A—likely benign
rs7539618833:50,402,115G/A—likely benign
rs13004744423:50,402,121G/A—likely benign
rs1502847493:50,402,127T/G—conflicting classifications of pathogenicity
rs1508328473:50,402,131G/A—likely benign
rs8905321963:50,402,132G/A—uncertain significance
rs1457723063:50,402,136C/T—benign
rs15598691193:50,402,137G/A—uncertain significance
rs7467984693:50,402,141G/T—likely benign
rs9846809913:50,402,142G/C—likely benign
rs10147556973:50,402,143G/A—uncertain significance
rs13792698003:50,402,145C/T—likely benign
rs17041235033:50,402,148C/T—likely benign
rs13481939373:50,402,151G/A—likely benign
rs10177248663:50,402,156G/A—likely benign
rs9618722963:50,402,157G/A—likely benign
rs1472787053:50,402,159G/A—conflicting classifications of pathogenicity
rs771766983:50,402,160G/C—likely benign
rs14578765103:50,402,165G/C—uncertain significance
rs24709717933:50,402,167A/C—likely pathogenic
rs9478678773:50,402,175G/A—likely benign
rs729348093:50,402,180C/T—benign
rs9249461973:50,402,184G/T—likely benign
rs7771644863:50,402,193C/G—likely benign
rs7726835423:50,402,196C/T—likely benign
rs17041301543:50,402,197G/A—uncertain significance
rs7758081303:50,402,199C/T—likely benign
rs13339306953:50,402,203A/C—uncertain significance
rs3775316853:50,402,208G/A—likely benign
rs12845365663:50,402,211C/T—likely benign
rs1864681593:50,402,214G/A—likely benign
rs17041320573:50,402,215C/T—uncertain significance
rs17041326863:50,402,218C/A—uncertain significance
rs15755773853:50,402,222A/T—uncertain significance
rs10527039803:50,402,223G/A—likely benign
rs7620131393:50,402,229G/A—likely benign
rs1446322073:50,402,230G/A—uncertain significance
rs3734973073:50,402,241C/T—likely benign
rs14099792333:50,402,243G/A—likely benign
rs9141254443:50,402,245G/T—likely benign
rs7663633343:50,402,247G/A—likely benign
rs7514131313:50,402,249G/C—likely benign
rs17041399523:50,402,299C/T—likely benign
rs1438458663:50,402,303C/A—likely benign
rs3760000183:50,402,305C/T—likely benign
rs7525173213:50,402,306C/T—likely benign
rs22398013:50,402,309C/T—likely benign
rs15755777993:50,402,323G/A—uncertain significance
rs5877239743:50,402,324C/T—uncertain significance
rs21093951123:50,402,331G/A—likely benign
rs7816601633:50,402,343G/T—uncertain significance
rs21093952323:50,402,347G/A—uncertain significance
rs3737453483:50,402,349G/A—likely benign
rs7742633063:50,402,363G/A—uncertain significance
rs130977963:50,402,366G/T—uncertain significance
rs7755261173:50,402,368C/G—uncertain significance
rs17041463793:50,402,375C/T—uncertain significance
rs2019664433:50,402,385C/T—likely benign
rs21093954633:50,402,387G/A—pathogenic
rs14576962553:50,402,390C/T—uncertain significance
rs7639191743:50,402,391C/G—likely benign
rs7536002333:50,402,392G/A—uncertain significance
rs15755780073:50,402,394G/A—likely benign
rs7498836273:50,402,398T/C—uncertain significance
rs13901080323:50,402,400C/A—likely benign
rs10605048343:50,402,405G/A—likely benign
rs3709835313:50,402,407C/T—likely benign
rs3743026483:50,402,408A/G—likely benign
rs15755780643:50,402,413T/A—likely benign
rs3762213603:50,402,414G/A—likely benign
rs13682086743:50,402,417G/T—likely benign
rs24709733103:50,402,421C/T—likely benign
rs7496378343:50,402,491G/A—likely benign
rs11636899823:50,402,496G/A—likely benign
rs14152437623:50,402,497G/C—likely benign
rs14666955573:50,402,498C/T—likely benign
rs7790046083:50,402,509G/A—uncertain significance
rs7460414043:50,402,510C/A—likely benign
rs7723336713:50,402,511G/A—uncertain significance
rs14157939303:50,402,516C/T—likely benign
rs13318428433:50,402,519C/T—likely benign
rs5876918643:50,402,520T/A—uncertain significance
rs12659684963:50,402,525C/T—likely benign
rs7615479383:50,402,527G/A—likely benign
rs3739666753:50,402,528C/A—likely benign
rs17041640213:50,402,529C/G—uncertain significance
rs2004294663:50,402,531G/A—likely benign
rs1385964353:50,402,534A/T—likely benign
rs11868085203:50,402,540G/A—likely benign
rs24709742723:50,402,543C/T—likely benign
rs10042419253:50,402,547C/G—uncertain significance
rs3735926723:50,402,555C/G—likely benign
rs7575727223:50,402,556G/A—uncertain significance
rs14020643393:50,402,564G/A—likely benign
rs7506751143:50,402,567C/T—uncertain significance
rs13032701283:50,402,576G/A—likely benign
rs15755788373:50,402,577A/G—pathogenic

Showing 100 of 975 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.