KCND2

potassium voltage-gated channel subfamily D member 2

Summary

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member mediates a rapidly inactivating, A-type outward potassium current which is not under the control of the N terminus as it is in Shaker channels. [provided by RefSeq, Jul 2008]

Known Variants339 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5593920547:119,913,482C/T—benign
rs1816858237:119,913,490A/C—benign
rs13863478147:119,914,690G/T—uncertain significance
rs7740910547:119,914,698G/T—likely benign
rs7614301497:119,914,699G/A—uncertain significance
rs7718783027:119,914,700T/G—uncertain significance
rs25469067497:119,914,702G/A—uncertain significance
rs7729532617:119,914,703C/A—uncertain significance
rs21162417657:119,914,705G/A—uncertain significance
rs7606108767:119,914,706C/A—uncertain significance
rs3691411177:119,914,707G/C—likely benign
rs7537093687:119,914,713G/C—likely benign
rs1423921537:119,914,717T/C—likely benign
rs359500537:119,914,719T/G—likely benign
rs10087480757:119,914,725G/A—likely benign
rs7586510647:119,914,728A/G—likely benign
rs1416377327:119,914,734T/C—likely benign
rs7519106987:119,914,737C/T—likely benign
rs25469067787:119,914,738G/C—uncertain significance
rs17991455907:119,914,747C/G—uncertain significance
rs7468234847:119,914,750G/C—uncertain significance
rs1470650697:119,914,755C/T—likely benign
rs3730828987:119,914,762C/T—uncertain significance
rs25469068277:119,914,769C/T—uncertain significance
rs25469068507:119,914,781G/A—uncertain significance
rs12868359407:119,914,790G/A—uncertain significance
rs7766741717:119,914,791G/A—likely benign
rs7593716897:119,914,794A/G—likely benign
rs12720118517:119,914,801C/G—uncertain significance
rs7756409687:119,914,808C/T—likely benign
rs17991471997:119,914,816G/A—uncertain significance
rs17991473947:119,914,835C/T—uncertain significance
rs7518231767:119,914,837C/T—uncertain significance
rs11922563967:119,914,845G/C—uncertain significance
rs11640731707:119,914,855G/A—uncertain significance
rs7677494097:119,914,860C/T—likely benign
rs17991483587:119,914,874C/T—uncertain significance
rs15847062917:119,914,881T/A—likely benign
rs7565397557:119,914,890C/T—likely benign
rs17991486187:119,914,899G/A—likely benign
rs25469069317:119,914,901G/A—uncertain significance
rs1409496317:119,914,902G/A—likely benign
rs25469069427:119,914,915C/T—uncertain significance
rs5478977257:119,914,920A/C—likely benign
rs12730895077:119,914,922A/C—uncertain significance
rs13065984227:119,914,930C/T—uncertain significance
rs7578925567:119,914,935T/C—likely benign
rs7764080467:119,914,945C/T—uncertain significance
rs13711245037:119,914,954G/C—uncertain significance
rs7708105637:119,914,957A/G—uncertain significance
rs21162425177:119,914,959C/T—likely benign
rs8674828297:119,914,964G/A—uncertain significance
rs17991503397:119,914,965C/T—likely benign
rs15847063647:119,914,982A/G—uncertain significance
rs3777461787:119,914,985G/T—uncertain significance
rs21162425997:119,914,988C/A—uncertain significance
rs7697940497:119,915,004T/C—likely benign
rs7755509387:119,915,007T/C—likely benign
rs7631891877:119,915,008C/T—uncertain significance
rs17991514467:119,915,009G/A—uncertain significance
rs21162426667:119,915,011C/A—uncertain significance
rs15847063917:119,915,016G/A—likely benign
rs7747633767:119,915,022C/A—likely benign
rs25469070347:119,915,024C/G—uncertain significance
rs25469070427:119,915,029T/G—uncertain significance
rs11997220347:119,915,045C/A—uncertain significance
rs14369111977:119,915,052T/C—likely benign
rs5712817067:119,915,070C/A—likely benign
rs14488703717:119,915,071A/G—uncertain significance
rs12333596097:119,915,074G/C—uncertain significance
rs25469071507:119,915,079C/G—uncertain significance
rs7772461127:119,915,088T/C—likely benign
rs25469071617:119,915,089G/T—uncertain significance
rs17991534207:119,915,091G/A—likely benign
rs17991534437:119,915,092G/A—uncertain significance
rs1503676287:119,915,118C/T—likely benign
rs25469071827:119,915,119G/A—uncertain significance
rs25469071857:119,915,124G/A—likely benign
rs12729089677:119,915,126G/A—uncertain significance
rs9917243367:119,915,136C/A—uncertain significance
rs12856096427:119,915,137G/A—uncertain significance
rs14634784957:119,915,141C/T—uncertain significance
rs1163228727:119,915,142G/A—benign
rs12549293117:119,915,144A/T—uncertain significance
rs1491199407:119,915,154C/G—likely benign
rs1447652427:119,915,155G/A—conflicting classifications of pathogenicity
rs21162431327:119,915,167G/C—uncertain significance
rs21162431777:119,915,194A/G—uncertain significance
rs21162431957:119,915,197G/A—uncertain significance
rs25469073307:119,915,219C/G—uncertain significance
rs21162432327:119,915,222A/G—uncertain significance
rs25469073507:119,915,239C/T—likely benign
rs25469073577:119,915,252A/G—uncertain significance
rs25469073607:119,915,254G/C—uncertain significance
rs7807702597:119,915,259G/C—likely benign
rs13270421127:119,915,262G/A—likely benign
rs25469073707:119,915,268C/T—likely benign
rs12350353377:119,915,271T/C—likely benign
rs12751476297:119,915,274C/T—likely benign
rs7500568267:119,915,275G/A—uncertain significance

Showing 100 of 339 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.