Reviewed November 2006
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 called potassium voltage-gated channel KQT-like protein 4. The KCNQ4 protein is part of a protein family that forms channels to transport positively charged potassium atoms (potassium ions) between neighboring cells. The channels, made from four protein subunits, 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 tissue location. Potassium channels made with the KCNQ4 protein are found in the inner ear and along part of the nerve pathway from the ear to the brain (auditory pathway). KCNQ4 potassium channels are also found in small numbers in the heart and some 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. This conversion involves many processes, including maintaining the proper level of potassium ions in the inner ear. Although the exact role of KCNQ4 channels remains unknown, these channels appear to be critical for the efficient transmission of electrical nerve signals. KCNQ4 channels may help recycle potassium ions within the inner ear to maintain the proper potassium ion balance.
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 deafness - caused by mutations in the KCNQ4 gene
Several KCNQ4 gene mutations have been reported in individuals with a form of nonsyndromic deafness (hearing loss without related signs and symptoms affecting other parts of the body) called DFNA2. Most KCNQ4 gene mutations change one of the building blocks (amino acids) used to make the KCNQ4 protein. Nearly all of these changes affect the region of the protein that forms the pore or channel opening. As a result, the channel does not function properly and normal potassium ion levels may be disturbed. Two mutations delete part of the KCNQ4 gene, which results in an abnormally small KCNQ4 protein that cannot form functional channels. It is unclear whether deafness results from disturbed potassium levels within the inner ear, alterations in the auditory pathway, or both.
Where is the KCNQ4 gene located?
Cytogenetic Location: 1p34
Molecular Location on chromosome 1: base pairs 40,784,011 to 40,840,451
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 40,784,011 to base pair 40,840,451 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.
Educational resources - Information pages
- Biochemistry (5th edition, 2002): Specific Channels Can Rapidly Transport Ions Across Membranes (http://www.ncbi.nlm.nih.gov/books/NBK22509/)
- Neuromuscular Disease Center, Washington University: KCNQ family of potassium channels (http://neuromuscular.wustl.edu/mother/chan.html)
Gene Reviews - Clinical summary
- Gene Review: Deafness and Hereditary Hearing Loss Overview (http://www.ncbi.nlm.nih.gov/books/NBK1434)
- Gene Review: DFNA2 Nonsyndromic Hearing Loss (http://www.ncbi.nlm.nih.gov/books/NBK1209)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for KCNQ4 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9132%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28KCNQ4%5BTIAB%5D%29%20OR%20%28%28DFNA2%5BTIAB%5D%29%20OR%20%28KV7.4%5BTIAB%5D%29%20OR%20%28deafness,%20autosomal%20dominant%202%5BTIAB%5D%29%20OR%20%28KQT-like%204%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%202160%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/603537)
Research Resources - Tools for researchers
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=9132)
- Harvard Medical School Center for Hereditary Deafness (http://hearing.harvard.edu/db/genelist.htm)
- Hereditary Hearing Loss Homepage (http://hereditaryhearingloss.org/)
- HGNC Gene Family: Potassium channels (http://www.genenames.org/genefamilies/KCN)
- HGNC Gene Family: Voltage-gated ion channels / Potassium channels (http://www.genenames.org/genefamilies/VGIC)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=6298)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/9132)
What other names do people use for the KCNQ4 gene or gene products?
- KQT-like 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?
autosomal dominant ;
You may find definitions for these and many other terms in the Genetics Home Reference
- 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)
- Finsterer J, Fellinger J. Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing. Int J Pediatr Otorhinolaryngol. 2005 May;69(5):621-47. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15850684?dopt=Abstract)
- Kamada F, Kure S, Kudo T, Suzuki Y, Oshima T, Ichinohe A, Kojima K, Niihori T, Kanno J, Narumi Y, Narisawa A, Kato K, Aoki Y, Ikeda K, Kobayashi T, Matsubara Y. A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation. J Hum Genet. 2006;51(5):455-60. Epub 2006 Apr 5. (http://www.ncbi.nlm.nih.gov/pubmed/16596322?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)
- 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)
- Wangemann P. K(+) cycling and its regulation in the cochlea and the vestibular labyrinth. Audiol Neurootol. 2002 Jul-Aug;7(4):199-205. (http://www.ncbi.nlm.nih.gov/pubmed/12097719?dopt=Abstract)
- Willems PJ. Genetic causes of hearing loss. N Engl J Med. 2000 Apr 13;342(15):1101-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10760311?dopt=Abstract)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.