KCNQ4 Chromosome 1
Potassium voltage-gated channel subfamily Q member 4
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What This Gene Does
The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Potassium voltage-gated channels
Locus Type
gene with protein product
Location
1p34.2
Ensembl
ENSG00000117013
Associated Conditions (7)
Inborn genetic diseases
KCNQ4-related disorder
Hearing impairment
Autosomal dominant nonsyndromic hearing loss 2A
Rare genetic deafness
Nonsyndromic genetic hearing loss
Bilateral sensorineural hearing impairment
Key Variants
RS1001249688
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148913636
Conflicting classifications of pathogenicity
KCNQ4-related disorder, KCNQ4-related disorder
Health Risk
RS191389529
Conflicting classifications of pathogenicity
Health Risk
RS200053059
Conflicting classifications of pathogenicity
Hearing impairment, Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 2A
Health Risk
RS201271940
Conflicting classifications of pathogenicity
Health Risk
RS2148319965
Conflicting classifications of pathogenicity
Health Risk
RS2148320011
Conflicting classifications of pathogenicity
Health Risk
RS2148320413
Conflicting classifications of pathogenicity
Health Risk
RS367890569
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A
Health Risk
RS368785566
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS373727071
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A
Health Risk
RS374078257
Conflicting classifications of pathogenicity
Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 2A, Inborn genetic diseases
Health Risk
All Variants (56)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS80358278 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A |
| RS1064796365 | Health Risk | Pathogenic/Likely pathogenic | Bilateral sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
| RS1271250198 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A |
| RS1648636515 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A |
| RS28939710 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 2A, Rare genetic deafness, Autosomal dominant nonsyndromic hearing loss 2A |
| RS797044970 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A |