KCNQ4

Chr 1p34.2

potassium voltage-gated channel subfamily Q member 4

Aliases:: Kv7.4
MANE:: ENST00000347132.10

OMIM: 603537 ↗NCBI: 9132 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

KCNQ4 · P56696

v62025-08-01

Predicted Aligned Error matrix for KCNQ4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

65.3/ 100

Low

695 residues

Confidence breakdown

Very high(≥ 90)24%
Confident(70–90)28%
Low(50–70)9%
Very low(< 50)39%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Monogenic hearing loss
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Familial Meniere Disease

Disease associations (Open Targets)

autosomal dominant nonsyndromic hearing loss 2A
0.77
multiple sclerosis
0.59
nonsyndromic genetic hearing loss
0.57
Lambert-Eaton myasthenic syndrome
0.56
myasthenia gravis
0.56
epilepsy
0.51
Rare genetic deafness
0.50
Congenital myasthenic syndromes
0.50
congenital myasthenic syndrome
0.49
Seizure
0.49

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Potassium voltage-gated channel subfamily KQT member 4

Pore-forming subunit of the voltage-gated potassium (Kv) channel involved in the regulation of sensory cells excitability in the cochlea (PubMed:10025409, PubMed:34767770). KCNQ4/Kv7.4 channel is composed of 4 pore-forming subunits assembled as tetramers (PubMed:34767770). Promotes the outflow of potassium ions in the repolarization phase of action potential which plays a role in regulating membrane potential of excitable cells (PubMed:10025409, PubMed:11245603, PubMed:34767770). The channel conducts a slowly activating and deactivating current (PubMed:10025409, PubMed:11245603). Current often shows some inward rectification at positive potentials (PubMed:10025409). Channel may be selectively permeable in vitro to other cations besides potassium, in decreasing order of affinity K(+) = Rb(+) > Cs(+) > Na(+) (PubMed:10025409). Important for normal physiological function of inner ear such as sensory perception of sound (PubMed:10025409, PubMed:10369879)