KCNJ11 (Q14654) variants and mutations

KCNJ11 (also known as Q14654) is a human protein-coding gene encoding an ATP-sensitive inward rectifier potassium channel 11 protein. Together with SUR1, its ATP-sensitive potassium conductance couples pancreatic beta-cell metabolism to membrane depolarization and insulin secretion. Activating variants cause neonatal diabetes, whereas loss-of-function variants can cause congenital hyperinsulinism. This analysis covers 897 KCNJ11 variants and mutations. Of these, 86% have computational variant effect predictions. Disease context includes type 2 diabetes mellitus, hyperinsulinemic hypoglycemia, familial, 2, and diabetes mellitus, permanent neonatal 2. Example KCNJ11 variants include M1?, L2P, and L2L.

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 KCNJ11 variants

Examples include M1?, L2P, L2L, L2M, S3C, S3F, S3Y, R4C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.