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KCNQ4 gene
URL of this page: https://medlineplus.gov/genetics/gene/kcnq4/

KCNQ4 gene

potassium voltage-gated channel subfamily Q member 4

Normal Function

The KCNQ4 gene provides instructions for making a protein that is part of a family of potassium channels. These channels transport positively charged potassium atoms (potassium ions) between neighboring cells. The channels play a key role in the ability of cells to generate and transmit electrical signals. The specific function of a potassium channel depends on its protein components and its location in the body. Potassium channels that are made with the KCNQ4 protein appear to be critical for hearing as they are primarily found in certain cells of the inner ear and along part of the nerve pathway from the ear to the brain (the auditory pathway).

Hearing requires sound waves to be converted into electrical signals, which are then transmitted to the brain. To facilitate this process, the cells of the inner ear need to maintain a certain level of potassium ions. KCNQ4 potassium channels are involved in recycling potassium ions to ensure that they are available when needed. The channels play a critical role in the efficient transmission of electrical signals along the auditory pathway from the inner ear to the brain.

Health Conditions Related to Genetic Changes

Nonsyndromic hearing loss

Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in the KCNQ4 gene have been found to cause nonsyndromic hearing loss, which is a partial or total loss of hearing that is not associated with other signs and symptoms.

KCNQ4 gene variants cause a form of nonsyndromic hearing loss called DFNA2. DFNA2 is inherited in an autosomal dominant pattern, which means one altered copy of the KCNQ4 gene in each cell is sufficient to cause the disorder. This form of hearing loss generally begins after a child learns to speak (postlingual) and affects the ability to hear high-frequency sounds. DFNA2 is progressive, which means that the hearing loss worsens over time.

Some KCNQ4 gene variants prevent the production of any KCNQ4 protein, while others lead to the production of altered proteins that cannot form normal channels. As a result, there is a shortage of functional potassium channels. Sometimes, these altered channels cannot reach the cell membrane where they are needed to transport potassium ions. It is likely that when abnormal KCNQ4 proteins cannot become part of a channel, the proteins build up within cells in the inner ear and damage the cell, further contributing to hearing loss. Without enough functional potassium channels, signals cannot be efficiently transmitted along the auditory pathway, causing nonsyndromic hearing loss.

More About This Health Condition

Age-related hearing loss

MedlinePlus Genetics provides information about Age-related hearing loss

More About This Health Condition

Other Names for This Gene

  • DFNA2
  • KQT-like 4
  • KV7.4

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Coucke PJ, Van Hauwe P, Kelley PM, Kunst H, Schatteman I, Van Velzen D, Meyers J, Ensink RJ, Verstreken M, Declau F, Marres H, Kastury K, Bhasin S, McGuirt WT, Smith RJ, Cremers CW, Van de Heyning P, Willems PJ, Smith SD, Van Camp G. Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. Hum Mol Genet. 1999 Jul;8(7):1321-8. doi: 10.1093/hmg/8.7.1321. Citation on PubMed
  • Gao Y, Yechikov S, Vazquez AE, Chen D, Nie L. Impaired surface expression and conductance of the KCNQ4 channel lead to sensorineural hearing loss. J Cell Mol Med. 2013 Jul;17(7):889-900. doi: 10.1111/jcmm.12080. Epub 2013 Jun 11. Citation on PubMed or Free article on PubMed Central
  • Kim HJ, Lv P, Sihn CR, Yamoah EN. Cellular and molecular mechanisms of autosomal dominant form of progressive hearing loss, DFNA2. J Biol Chem. 2011 Jan 14;286(2):1517-27. doi: 10.1074/jbc.M110.179010. Epub 2010 Oct 21. Citation on PubMed or Free article on PubMed Central
  • Kojima T, Wasano K, Takahashi S, Homma K. Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss. Dis Model Mech. 2021 Nov 1;14(11):dmm049015. doi: 10.1242/dmm.049015. Epub 2021 Nov 26. Citation on PubMed
  • Kubisch C, Schroeder BC, Friedrich T, Lutjohann B, El-Amraoui A, Marlin S, Petit C, Jentsch TJ. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell. 1999 Feb 5;96(3):437-46. doi: 10.1016/s0092-8674(00)80556-5. Citation on PubMed
  • Naito T, Nishio SY, Iwasa Y, Yano T, Kumakawa K, Abe S, Ishikawa K, Kojima H, Namba A, Oshikawa C, Usami S. Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation. PLoS One. 2013 May 23;8(5):e63231. doi: 10.1371/journal.pone.0063231. Print 2013. Citation on PubMed or Free article on PubMed Central
  • Rim JH, Choi JY, Jung J, Gee HY. Activation of KCNQ4 as a Therapeutic Strategy to Treat Hearing Loss. Int J Mol Sci. 2021 Mar 2;22(5):2510. doi: 10.3390/ijms22052510. Citation on PubMed
  • Smith RJH, Hildebrand M. DFNA2 Nonsyndromic Hearing Loss. 2008 Apr 4 [updated 2018 May 10]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1209/ Citation on PubMed
  • Zheng H, Yan X, Li G, Lin H, Deng S, Zhuang W, Yao F, Lu Y, Xia X, Yuan H, Jin L, Yan Z. Proactive functional classification of all possible missense single-nucleotide variants in KCNQ4. Genome Res. 2022 Aug 25;32(8):1573-1584. doi: 10.1101/gr.276562.122. Citation on PubMed

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