KCNQ4 (P56696) variants and mutations

KCNQ4 (also known as P56696) is a human protein-coding gene encoding a potassium voltage-gated channel subfamily KQT member 4 protein. Its potassium conductance is crucial for electrical homeostasis in cochlear outer hair cells and auditory pathways. Dominant pathogenic variants are a well-established cause of progressive nonsyndromic sensorineural hearing loss, classically DFNA2. This analysis covers 1,332 KCNQ4 variants and mutations. Of these, 92% have computational variant effect predictions. Disease context includes autosomal dominant nonsyndromic hearing loss 2A, multiple sclerosis, and nonsyndromic genetic hearing loss. Example KCNQ4 variants include A2P, A2T, and A2S.

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, MaveDB, LitVar.

Notable KCNQ4 variants

Examples include A2P, A2T, A2S, A2V, A2D, A2G, A2A, E3K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.