Aliases for KCNH2 Gene
- Potassium Voltage-Gated Channel Subfamily H Member 2 2 3 3 5
- Potassium Voltage-Gated Channel, Subfamily H (Eag-Related), Member 2 2 3
- Ether-A-Go-Go-Related Gene Potassium Channel 1 3 4
- Voltage-Gated Potassium Channel Subunit Kv11.1 3 4
- Ether-A-Go-Go-Related Protein 1 3 4
- Eag-Related Protein 1 3 4
- Eag Homolog 3 4
- HERG1 3 4
- ERG-1 3 4
- H-ERG 3 4
External Ids for KCNH2 Gene
Previous HGNC Symbols for KCNH2 Gene
Previous GeneCards Identifiers for KCNH2 Gene
This gene encodes a voltage-activated potassium channel belonging to the eag family. It shares sequence similarity with the Drosophila ether-a-go-go (eag) gene. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
GeneCards Summary for KCNH2 Gene
KCNH2 (Potassium Voltage-Gated Channel Subfamily H Member 2) is a Protein Coding gene. Diseases associated with KCNH2 include Long Qt Syndrome 2 and Short Qt Syndrome 1. Among its related pathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and obsolete signal transducer activity. An important paralog of this gene is KCNH7.
UniProtKB/Swiss-Prot for KCNH2 Gene
Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel. Channel properties are modulated by cAMP and subunit assembly. Mediates the rapidly activating component of the delayed rectifying potassium current in heart (IKr) (PubMed:18559421, PubMed:26363003, PubMed:27916661).
Isoform A-USO: Has no channel activity by itself, but modulates channel characteristics by forming heterotetramers with other isoforms which are retained intracellularly and undergo ubiquitin-dependent degradation.
Isoform B-USO: Has no channel activity by itself, but modulates channel characteristics by forming heterotetramers with other isoforms which are retained intracellularly and undergo ubiquitin-dependent degradation.
Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The alpha-subunits contain a single pore-forming region and combine to form tetramers.