Gene: KCNQ4

Alternate names for this Gene: DFNA2|DFNA2A|KV7.4

Gene 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.2

Description of this Gene: potassium voltage-gated channel subfamily Q member 4

Type of Gene: protein-coding

rs138553394 in KCNQ4 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs137853969 in KCNQ4 gene and Deafness, Autosomal Dominant 2A PMID 21242547 2011 Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.

PMID 10025409 1999 KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.

PMID 10571947 1999 Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss.

PMID 10369879 1999 Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

PMID 10925378 2000 Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.

PMID 23717403 2013 Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.

PMID 25116015 2014 Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss.

PMID 26036578 2015 A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss.

PMID 23399560 2013 Moderate hearing loss associated with a novel KCNQ4 non-truncating mutation located near the N-terminus of the pore helix.

PMID 23443030 2013 Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL.

PMID 22420747 2012 In silico modeling of the pore region of a KCNQ4 missense mutant from a patient with hearing loss.