KCNQ4

Potassium voltage-gated channel subfamily KQT member 4, also known as voltage-gated potassium channel subunit K_v7.4, is a protein that in humans is encoded by the KCNQ4 gene.^[5][6][7]

KCNQ4
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2OVC, 4GOW
Identifiers
Aliases	KCNQ4, DFNA2, DFNA2A, KV7.4, potassium voltage-gated channel subfamily Q member 4
External IDs	OMIM: 603537; MGI: 1926803; HomoloGene: 78107; GeneCards: KCNQ4; OMA:KCNQ4 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p34.2 Start 40,783,787 bp[1] End 40,840,452 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 D2.1 Start 120,553,335 bp[2] End 120,605,809 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in retinal pigment epithelium muscle layer of sigmoid colon right coronary artery gastric mucosa parotid gland popliteal artery tibial arteries thoracic aorta ascending aorta left coronary artery Top expressed in digastric muscle lumbar spinal ganglion extraocular muscle muscle of thigh knee joint retinal pigment epithelium temporal muscle vastus lateralis muscle sternocleidomastoid muscle thoracic diaphragm More reference expression data BioGPS More reference expression data
Gene ontology Molecular function potassium channel activity voltage-gated ion channel activity ion channel activity protein binding voltage-gated potassium channel activity delayed rectifier potassium channel activity calmodulin binding Cellular component integral component of membrane membrane voltage-gated potassium channel complex plasma membrane basal plasma membrane Biological process regulation of ion transmembrane transport ion transport hearing potassium ion transport transmembrane transport potassium ion transmembrane transport inner ear morphogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9132 60613 Ensembl ENSG00000117013 ENSMUSG00000028631 UniProt P56696 Q9JK97 RefSeq (mRNA) NM_004700 NM_172163 NM_001081142 RefSeq (protein) NP_004691 NP_751895 NP_001074611 Location (UCSC) Chr 1: 40.78 – 40.84 Mb Chr 4: 120.55 – 120.61 Mb PubMed search [3] [4]
Wikidata
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Function

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 encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene.^[7]

Clinical significance

The current generated by this channel is inhibited by muscarinic acetylcholine receptor M1 and activated by retigabine, a novel anti-convulsant drug. 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.^[7]

Ligands

• ML213: KCNQ2/Q4 channel opener.^[8]

See also

• Voltage-gated potassium channel