KCNH2 potassium voltage-gated channel subfamily H member 2 [ Homo sapiens (human) ]
Source: NCBI Gene (ID 3757)
Symbol: KCNH2
Full name: potassium voltage-gated channel subfamily H member 2
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Also known as: ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1; LQT2; SQT1
Summary: 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]
Expression: Broad expression in bone marrow (RPKM 13.5), testis (RPKM 10.7) and 14 other tissues
Orthologs: mouse
Gene size: 33361bp
Exon count: 20