DISEASES

Disease-gene associations mined from literature

Literature associating KCNH2 and Timothy syndrome

KCNH2 [ENSP00000262186]

Potassium voltage-gated channel subfamily H member 2; 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 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.

Synonyms:  KCNH2,  KCNH2p,  hKCNH2,  A0A090N7X5,  A0A090N8Q0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM