Reviewed November 2006
What is the official name of the CLDN14 gene?
The official name of this gene is “claudin 14.”
CLDN14 is the gene's official symbol. The CLDN14 gene is also known by other names, listed below.
What is the normal function of the CLDN14 gene?
The CLDN14 gene provides instructions for making a protein called claudin 14. This protein is a member of the claudin protein family, which provides building components for tight junctions. Tight junctions seal the space between cells, creating a barrier that restricts the passage of fluids and certain particles in and out of cells. For example, tight junctions prevent digestive enzymes in intestinal cells from leaking into the blood.
Claudin 14 is found in the liver, kidneys, and inner ear, but its exact function is unclear. In the inner ear, this protein probably plays a role in converting sound waves to nerve impulses, a critical process for normal hearing. This conversion process requires the proper level of charged atoms (ions). Researchers suggest that tight junctions composed of claudin 14 help to maintain these ion levels.
How are changes in the CLDN14 gene related to health conditions?
- nonsyndromic deafness - caused by mutations in the CLDN14 gene
Researchers have identified a few CLDN14 gene mutations that cause a form of nonsyndromic deafness (hearing loss without related signs and symptoms affecting other parts of the body) called DFNB29. One mutation deletes a single DNA building block (base pair), which disrupts the instructions for producing claudin 14. The remaining mutations change one of the protein building blocks (amino acids) used to make claudin 14. These changes probably alter the structure of claudin 14, which could impair the protein's ability to form tight junctions. Improper ion levels may result from missing or altered tight junctions, which could disrupt processes required for normal hearing.
Where is the CLDN14 gene located?
Cytogenetic Location: 21q22.3
Molecular Location on chromosome 21: base pairs 36,460,620 to 36,580,084
The CLDN14 gene is located on the long (q) arm of chromosome 21 at position 22.3.
More precisely, the CLDN14 gene is located from base pair 36,460,620 to base pair 36,580,084 on chromosome 21.
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 CLDN14?
You and your healthcare professional may find the following resources about CLDN14 helpful.
Educational resources - Information pages
- Molecular Cell Biology (4th edition, 2000): Structure of Tight Junctions (http://www.ncbi.nlm.nih.gov/books/NBK21502/)
- The Cell, A Molecular Approach (2nd edition, 2000): Tight Junctions (http://www.ncbi.nlm.nih.gov/books/NBK9851/)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1434)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for CLDN14 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23562%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=%28%28CLDN14%5BTIAB%5D%29%20OR%20%28claudin%2014%5BTIAB%5D%29%29%20OR%20%28DFNB29%5BTIAB%5D%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%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/605608)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_CLDN14.html)
- Harvard Medical School Center for Hereditary Deafness (http://hearing.harvard.edu/db/genelist.htm)
- HGNC Gene Family: Claudins (http://www.genenames.org/cgi-bin/genefamilies/set/488)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=2035)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/23562)
- The Hereditary Hearing Loss Homepage (http://hereditaryhearingloss.org/)
What other names do people use for the CLDN14 gene or gene products?
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 CLDN14?
autosomal recessive ;
base pair ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Ben-Yosef T, Belyantseva IA, Saunders TL, Hughes ED, Kawamoto K, Van Itallie CM, Beyer LA, Halsey K, Gardner DJ, Wilcox ER, Rasmussen J, Anderson JM, Dolan DF, Forge A, Raphael Y, Camper SA, Friedman TB. Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration. Hum Mol Genet. 2003 Aug 15;12(16):2049-61. (http://www.ncbi.nlm.nih.gov/pubmed/12913076?dopt=Abstract)
- OMIM: CLAUDIN 14 (http://omim.org/entry/605608)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/23562)
- Petersen MB, Willems PJ. Non-syndromic, autosomal-recessive deafness. Clin Genet. 2006 May;69(5):371-92. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16650073?dopt=Abstract)
- Wattenhofer M, Reymond A, Falciola V, Charollais A, Caille D, Borel C, Lyle R, Estivill X, Petersen MB, Meda P, Antonarakis SE. Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro. Hum Mutat. 2005 Jun;25(6):543-9. (http://www.ncbi.nlm.nih.gov/pubmed/15880785?dopt=Abstract)
- Wilcox ER, Burton QL, Naz S, Riazuddin S, Smith TN, Ploplis B, Belyantseva I, Ben-Yosef T, Liburd NA, Morell RJ, Kachar B, Wu DK, Griffith AJ, Riazuddin S, Friedman TB. Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. Cell. 2001 Jan 12;104(1):165-72. (http://www.ncbi.nlm.nih.gov/pubmed/11163249?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.