Synonyms:ENTREZ:3757, ERG-1, ERG1, H-ERG, HERG, HERG1, HGNC:6251, KCNH2, Kv11.1, LQT2, MIM:152427, NM_000238, NM_001204798, NM_172056, NM_172057, NP_000229, NP_001191727, NP_742053, NP_742054, SQT1, XM_011516185, XM_011516186, XM_017012195, XM_017012196, XP_011514487, XP_011514488, XP_016867684, XP_016867685, potassium voltage-gated channel subfamily H member 2
Id:ENSG00000055118
Description:potassium voltage-gated channel subfamily H member 2
This gene encodes a component of a voltage-activated potassium channel found in cardiac muscle, nerve cells, and microglia. Four copies of this protein interact with one copy of the KCNE2 protein to form a functional potassium channel. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, May 2022]