Features include always present findings: Prolonged QT interval, Prolonged QTc interval, and Notched T wave; and common findings: Syncope and Sudden cardiac death. 8 total HPO annotations.

KCNH2 encodes potassium voltage-gated channel subfamily H member 2 (1,159 aa). Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel. Channel properties are modulated by cAMP and subunit assembly. Highest expression in Pituitary (85.3 TPM) and Colon Sigmoid (75.2 TPM).

Long QT syndrome 2 is associated with mutations in the KCNH2 gene on chromosome 7.

The KCNH2 protein participates in Class III antiarrhythmics bind KCNH2 in KCNH2:KCNE, KCNH2:KCNE transport K+ from cytosol to extracellular region, and Phase 3 - rapid repolarisation pathways.

KCNH2 is classified as a druggable target (Cell Surface, Druggable Genome, and Ion Channel categories) with score 0.6.

Genetic testing for KCNH2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 3 always present features, 2 common features.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily industry-sponsored.

48 publications have been identified in PubMed for long QT syndrome 2. Research spans Basic Science / Preclinical (44%), Case Report / Case Series (33%), and Epidemiology / Natural History (10%).