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KCNQ4

Synonyms
DFNA2, DFNA2A, KV7.4
External resources
Summary
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.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
3
Likely pathogenic
25
VUS
1,387
Likely benign
748
Benign
3,493

Patient Phenotypes

Proportions of phenotypes among 28 patients carrying pathogenic or likely pathogenic variants on KCNQ4 gene are displayed below. The following symptoms were found in patients with a variant in KCNQ4. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
32.1%
Abnormality of the ear
17.9%
Abnormality of the musculoskeletal system
17.9%
Abnormality of the cardiovascular system
14.3%
Abnormality of the eye
14.3%
Abnormality of head or neck
10.7%
Abnormality of metabolism homeostasis
10.7%
Abnormality of the genitourinary system
10.7%
Growth abnormality
10.7%
Abnormality of limbs
3.6%
Abnormality of prenatal development or birth
3.6%
Abnormality of the endocrine system
3.6%
Abnormality of the immune system
3.6%
Abnormality of the respiratory system
3.6%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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