KCNJ2 (P63252) variants and mutations

KCNJ2 (also known as P63252) is a human protein-coding gene encoding an inward rectifier potassium channel 2 protein. Its inward-rectifier current stabilizes the resting membrane potential in cardiac and skeletal muscle and contributes to terminal cardiac repolarization. Loss-of-function variants cause Andersen-Tawil syndrome, while gain-of-function variants can cause short-QT syndrome. This analysis covers 969 KCNJ2 variants and mutations. Of these, 85% have computational variant effect predictions. Disease context includes Andersen-Tawil syndrome, Cardiodysrhythmic potassium-sensitive periodic paralysis, and short QT syndrome type 3. Example KCNJ2 variants include M1T, G2D, and G2R.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable KCNJ2 variants

Examples include M1T, G2D, G2R, G2G, S3T, S3S, S3R, V4E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.