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Genetics Home Reference: your guide to understanding genetic conditions
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KCNQ4

Reviewed February 2016

What is the official name of the KCNQ4 gene?

The official name of this gene is “potassium channel, voltage gated KQT-like subfamily Q, member 4.”

KCNQ4 is the gene's official symbol. The KCNQ4 gene is also known by other names, listed below.

What is the normal function of the KCNQ4 gene?

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 made with the KCNQ4 protein are found in certain cells of the inner ear and along part of the nerve pathway from the ear to the brain (the auditory pathway). To a lesser extent, KCNQ4 potassium channels are also found in the heart and some other muscles.

Because KCNQ4 potassium channels are present in the inner ear and auditory pathway, researchers have focused on their role in hearing. Hearing requires the conversion of sound waves to electrical nerve signals, which are then transmitted to the brain. This conversion involves many processes, including maintenance of the proper levels of potassium ions in the inner ear. KCNQ4 channels help to maintain these levels, playing a critical role in the efficient transmission of electrical nerve signals from the inner ear to the brain.

Does the KCNQ4 gene share characteristics with other genes?

The KCNQ4 gene belongs to a family of genes called KCN (potassium channels).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the KCNQ4 gene related to health conditions?

nonsyndromic hearing loss - caused by mutations in the KCNQ4 gene

Several KCNQ4 gene mutations have been reported in individuals with nonsyndromic hearing loss, which is loss of hearing that is not associated with other signs and symptoms. Mutations in this gene cause a form of nonsyndromic hearing loss called DFNA2. This form of hearing loss generally begins after a child learns to speak (postlingual) and particularly affects the ability to hear high-frequency sounds. DFNA2 is described as progressive, which means it becomes more severe over time.

Most KCNQ4 gene mutations change one of the building blocks (amino acids) used to make the KCNQ4 protein. Some mutations prevent the channel from reaching the cell membrane, where it is needed to transport potassium ions. Other mutations lead to the formation of abnormal channels that cannot transport these ions effectively. The loss of functional KCNQ4 channels appears to cause a buildup of potassium ions in certain cells of the inner ear, which damages those cells and leads to progressive hearing loss in people with DFNA2.

Where is the KCNQ4 gene located?

Cytogenetic Location: 1p34

Molecular Location on chromosome 1: base pairs 40,784,012 to 40,840,452

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/9132))

The KCNQ4 gene is located on the short (p) arm of chromosome 1 at position 34.

The KCNQ4 gene is located on the short (p) arm of chromosome 1 at position 34.

More precisely, the KCNQ4 gene is located from base pair 40,784,012 to base pair 40,840,452 on chromosome 1.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about KCNQ4?

You and your healthcare professional may find the following resources about KCNQ4 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the KCNQ4 gene or gene products?

  • DFNA2
  • KCNQ4_HUMAN
  • KQT-like 4
  • KV7.4
  • potassium voltage-gated channel, KQT-like subfamily, member 4

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding KCNQ4?

acids ; auditory ; autosomal ; autosomal dominant ; cell ; cell membrane ; channel ; gene ; hair cells ; ions ; postlingual ; potassium ; protein ; voltage

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

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. (http://www.ncbi.nlm.nih.gov/pubmed/10369879?dopt=Abstract)
  • Gao Y, Yechikov S, Vázquez 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. (http://www.ncbi.nlm.nih.gov/pubmed/23750663?dopt=Abstract)
  • Gene Review: DFNA2 Nonsyndromic Hearing Loss (http://www.ncbi.nlm.nih.gov/books/NBK1209)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/20966080?dopt=Abstract)
  • Kubisch C, Schroeder BC, Friedrich T, Lütjohann 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. (http://www.ncbi.nlm.nih.gov/pubmed/10025409?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/23717403?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/9132)
  • OMIM: POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 4 (http://omim.org/entry/603537)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2016
Published: February 1, 2016