Reviewed October 2010
What is the official name of the USH2A gene?
The official name of this gene is “Usher syndrome 2A (autosomal recessive, mild).”
USH2A is the gene's official symbol. The USH2A gene is also known by other names, listed below.
What is the normal function of the USH2A gene?
The USH2A gene provides instructions for making a protein called usherin. Usherin is an important component of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. Usherin is found in the inner ear and the layer of light-sensitive tissue at the back of the eye (the retina). Although the function of usherin has not been well established, studies suggest that it is part of a group of proteins (a protein complex) that plays an important role in inner ear and retinal development. In these locations, the protein complex may also be involved in the function of synapses, which are junctions between nerve cells where cell-to-cell communication occurs.
Does the USH2A gene share characteristics with other genes?
The USH2A gene belongs to a family of genes called fibronectin type III domain containing (fibronectin type III domain containing).
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 USH2A gene related to health conditions?
- retinitis pigmentosa - caused by mutations in the USH2A gene
Several mutations in the USH2A gene have been reported to cause retinitis pigmentosa. USH2A gene mutations are the most common cause of the autosomal recessive form of retinitis pigmentosa, accounting for 10 to 15 percent of all cases. This form of the disorder is described as nonsyndromic, which means that it is not part of a larger genetic syndrome (such as Usher syndrome, described below).
The USH2A gene mutations that cause autosomal recessive retinitis pigmentosa change single protein building blocks (amino acids) in the usherin protein. Through a mechanism that is not well understood, these genetic changes lead to the gradual breakdown of specialized light receptor cells (photoreceptors) in the retina. A loss of these cells underlies the progressive vision loss characteristic of this condition.
- Usher syndrome - caused by mutations in the USH2A gene
More than 200 mutations in the USH2A gene have been identified in people with Usher syndrome type IIA. Several of these mutations change single protein building blocks (amino acids) in the usherin protein. These mutations often lead to the production of an abnormally short version of the protein or prevent the cell from making any functional usherin. Other mutations insert or delete small amounts of DNA in the USH2A gene, which probably impairs the normal function of usherin. Researchers have not determined how a missing or altered usherin protein leads to the hearing impairment and vision loss that are characteristic of Usher syndrome type IIA.
It is unclear why some USH2A gene mutations result in Usher syndrome type IIA, while other mutations cause retinitis pigmentosa without hearing loss.
Where is the USH2A gene located?
Cytogenetic Location: 1q41
Molecular Location on chromosome 1: base pairs 215,622,893 to 216,423,395
The USH2A gene is located on the long (q) arm of chromosome 1 at position 41.
More precisely, the USH2A gene is located from base pair 215,622,893 to base pair 216,423,395 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 USH2A?
You and your healthcare professional may find the following resources about USH2A helpful.
Gene Reviews - Clinical summary
- Gene Review: Retinitis Pigmentosa Overview (http://www.ncbi.nlm.nih.gov/books/NBK1417)
- Gene Review: Usher Syndrome Type II (http://www.ncbi.nlm.nih.gov/books/NBK1341)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for USH2A (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7399%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%28USH2A%5BTIAB%5D%29%20OR%20%28Usher%20syndrome%202A%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%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/608400)
Research Resources - Tools for researchers
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=7399)
- Harvard Medical School Center for Hereditary Deafness (http://hearing.harvard.edu/db/genelist.htm)
- Hereditary Hearing Loss Homepage (http://hereditaryhearingloss.org/)
- HGNC Gene Family: Fibronectin type III domain containing (http://www.genenames.org/genefamilies/FN3)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=12601)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/7399)
- Retina International's Scientific Newsletter: USH2A Mutation Database (http://www.retina-international.org/files/sci-news/ush2amut.htm)
- RetNet: Summaries of Genes and Loci Causing Retinal Diseases: USH2A (https://sph.uth.edu/retnet/disease.htm)
What other names do people use for the USH2A 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 USH2A?
autosomal recessive ;
basement membranes ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Ahmed ZM, Riazuddin S, Riazuddin S, Wilcox ER. The molecular genetics of Usher syndrome. Clin Genet. 2003 Jun;63(6):431-44. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12786748?dopt=Abstract)
- Aller E, Nájera C, Millán JM, Oltra JS, Pérez-Garrigues H, Vilela C, Navea A, Beneyto M. Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments. Eur J Hum Genet. 2004 May;12(5):407-10. (http://www.ncbi.nlm.nih.gov/pubmed/14970843?dopt=Abstract)
- Bhattacharya G, Miller C, Kimberling WJ, Jablonski MM, Cosgrove D. Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome type IIa. Hear Res. 2002 Jan;163(1-2):1-11. (http://www.ncbi.nlm.nih.gov/pubmed/11788194?dopt=Abstract)
- Keats BJ, Savas S. Genetic heterogeneity in Usher syndrome. Am J Med Genet A. 2004 Sep 15;130A(1):13-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15368488?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/7399)
- Ouyang XM, Hejtmancik JF, Jacobson SG, Li AR, Du LL, Angeli S, Kaiser M, Balkany T, Liu XZ. Mutational spectrum in Usher syndrome type II. Clin Genet. 2004 Apr;65(4):288-93. Erratum in: Clin Genet. 2004 May;65(5):433. Yam, D [corrected to Yan, D]. (http://www.ncbi.nlm.nih.gov/pubmed/15025721?dopt=Abstract)
- Reiners J, Nagel-Wolfrum K, Jürgens K, Märker T, Wolfrum U. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp Eye Res. 2006 Jul;83(1):97-119. Epub 2006 Mar 20. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16545802?dopt=Abstract)
- Sandberg MA, Rosner B, Weigel-DiFranco C, McGee TL, Dryja TP, Berson EL. Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. Invest Ophthalmol Vis Sci. 2008 Dec;49(12):5532-9. doi: 10.1167/iovs.08-2009. Epub 2008 Jul 18. (http://www.ncbi.nlm.nih.gov/pubmed/18641288?dopt=Abstract)
- Schwartz SB, Aleman TS, Cideciyan AV, Windsor EA, Sumaroka A, Roman AJ, Rane T, Smilko EE, Bennett J, Stone EM, Kimberling WJ, Liu XZ, Jacobson SG. Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. Invest Ophthalmol Vis Sci. 2005 Feb;46(2):734-43. (http://www.ncbi.nlm.nih.gov/pubmed/15671307?dopt=Abstract)
- van Wijk E, Pennings RJ, te Brinke H, Claassen A, Yntema HG, Hoefsloot LH, Cremers FP, Cremers CW, Kremer H. Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. Am J Hum Genet. 2004 Apr;74(4):738-44. Epub 2004 Mar 10. (http://www.ncbi.nlm.nih.gov/pubmed/15015129?dopt=Abstract)
- Yan D, Ouyang X, Patterson DM, Du LL, Jacobson SG, Liu XZ. Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II. J Hum Genet. 2009 Dec;54(12):732-8. doi: 10.1038/jhg.2009.107. Epub 2009 Oct 30. (http://www.ncbi.nlm.nih.gov/pubmed/19881469?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.