# USH2A
> Mediated Wiki article. Canonical URL: https://mediated.wiki/source/USH2A
> Markdown URL: https://mediated.wiki/source/USH2A.md
> Source: https://en.wikipedia.org/wiki/USH2A
> Source revision: 1301031683
> License: Creative Commons Attribution-ShareAlike 4.0 International (https://creativecommons.org/licenses/by-sa/4.0/)
{{cs1 config|name-list-style=vanc}}
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
'''Usherin''' is a [protein](/source/protein) that in humans is encoded by the ''USH2A'' [gene](/source/gene).[{{cite journal | vauthors = Eudy JD, Weston MD, Yao S, Hoover DM, Rehm HL, Ma-Edmonds M, Yan D, Ahmad I, Cheng JJ, Ayuso C, Cremers C, Davenport S, Moller C, Talmadge CB, Beisel KW, Tamayo M, Morton CC, Swaroop A, Kimberling WJ, Sumegi J | title = Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa | journal = Science | volume = 280 | issue = 5370 | pages = 1753–7 |date=Jul 1998 | pmid = 9624053 | doi =10.1126/science.280.5370.1753 | bibcode = 1998Sci...280.1753E }}][{{cite journal | vauthors = Weston MD, Eudy JD, Fujita S, Yao S, Usami S, Cremers C, Greenberg J, Ramesar R, Martini A, Moller C, Smith RJ, Sumegi J, Kimberling WJ | title = Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa | journal = Am J Hum Genet | volume = 66 | issue = 4 | pages = 1199–210 |date=May 2000 | pmid = 10729113 | pmc = 1288187 | doi =10.1086/302855 }}]
This gene encodes the protein Usherin that contains [laminin EGF motifs](/source/Laminin), a [pentraxin](/source/Pentraxins) domain, and many [fibronectin type III motifs](/source/Fibronectin_type_III_domain). The encoded [basement membrane](/source/basement_membrane)-associated protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with [Usher syndrome](/source/Usher_syndrome) type IIa. Alternatively spliced transcript variants that encode different isoforms have been described.[{{cite web | title = Entrez Gene: USH2A Usher syndrome 2A (autosomal recessive, mild)| url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=7399}}]
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
*{{cite journal | vauthors=Michalski N, Michel V, Bahloul A, Lefèvre G, Barral J, Yagi H, Chardenoux S, Weil D, Martin P, Hardelin JP, Sato M, Petit C |title=Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning.|journal=J. Neurosci.|volume=27|issue= 24 |pages= 6478–88 |year= 2007 |pmid=17567809 | doi=10.1523/JNEUROSCI.0342-07.2007 |pmc=6672440|doi-access=free}}
*{{cite journal | vauthors=Liu X, Bulgakov OV, Darrow KN, Pawlyk B, Adamian M, Liberman MC, Li T |title=Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. |journal=Proc Natl Acad Sci U S A |volume=104|issue= 11 |pages= 4413–8 |year= 2007 |pmid=17360538 | doi=10.1073/pnas.0610950104 | pmc=1838616 |bibcode=2007PNAS..104.4413L |doi-access=free }}
*{{cite journal | vauthors=Ahmed ZM, Riazuddin S, Riazuddin S, Wilcox ER |title=The molecular genetics of Usher syndrome. |journal=Clin. Genet. |volume=63 |issue= 6 |pages= 431–44 |year= 2004 |pmid= 12786748 |doi=10.1034/j.1399-0004.2003.00109.x |s2cid=21024265 |url=https://zenodo.org/record/1231456 }}
*{{cite journal | author=Roland FP |title=Management of atypical pneumonias in view of the new entity "Legionnaire's disease". |journal=Rhode Island Medical Journal |volume=61 |issue= 7 |pages= 270–2 |year= 1978 |pmid= 276901 }}
*{{cite journal |vauthors=Liu XZ, Hope C, Liang CY, etal |title=A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. |journal=Am. J. Hum. Genet. |volume=64 |issue= 4 |pages= 1221–5 |year= 2000 |pmid= 10090909 |doi=10.1086/302332 | pmc=1377848 }}
*{{cite journal |vauthors=Adato A, Weston MD, Berry A, etal |title=Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families. |journal=Hum. Mutat. |volume=15 |issue= 4 |pages= 388 |year= 2000 |pmid= 10738000 |doi= 10.1002/(SICI)1098-1004(200004)15:4<388::AID-HUMU27>3.0.CO;2-N |s2cid=23146564 |doi-access=free }}
*{{cite journal | vauthors=Rivolta C, Sweklo EA, Berson EL, Dryja TP |title=Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. |journal=Am. J. Hum. Genet. |volume=66 |issue= 6 |pages= 1975–8 |year= 2001 |pmid= 10775529 |doi=10.1086/302926 | pmc=1378039 }}
*{{cite journal |vauthors=Dreyer B, Tranebjaerg L, Rosenberg T, etal |title=Identification of novel USH2A mutations: implications for the structure of USH2A protein. |journal=Eur. J. Hum. Genet. |volume=8 |issue= 7 |pages= 500–6 |year= 2000 |pmid= 10909849 |doi= 10.1038/sj.ejhg.5200491 |doi-access= free }}
*{{cite journal |vauthors=Leroy BP, Aragon-Martin JA, Weston MD, etal |title=Spectrum of mutations in USH2A in British patients with Usher syndrome type II. |journal=Exp. Eye Res. |volume=72 |issue= 5 |pages= 503–9 |year= 2001 |pmid= 11311042 |doi= 10.1006/exer.2000.0978 }}
*{{cite journal |vauthors=Dreyer B, Tranebjaerg L, Brox V, etal |title=A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. |journal=Am. J. Hum. Genet. |volume=69 |issue= 1 |pages= 228–34 |year= 2001 |pmid= 11402400 |doi=10.1086/321269 | pmc=1226039 }}
*{{cite journal |vauthors=Bhattacharya G, Miller C, Kimberling WJ, etal |title=Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome type IIa. |journal=Hear. Res. |volume=163 |issue= 1–2 |pages= 1–11 |year= 2002 |pmid= 11788194 |doi=10.1016/S0378-5955(01)00344-6 |s2cid=25738905 }}
*{{cite journal |vauthors=Nájera C, Beneyto M, Blanca J, etal |title=Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively |journal=Hum. Mutat. |volume=20 |issue= 1 |pages= 76–7 |year= 2002 |pmid= 12112664 |doi= 10.1002/humu.9042 |doi-access= free }}
*{{cite journal |vauthors=Huang D, Eudy JD, Uzvolgyi E, etal |title=Identification of the mouse and rat orthologs of the gene mutated in Usher syndrome type IIA and the cellular source of USH2A mRNA in retina, a target tissue of the disease |journal=Genomics |volume=80 |issue= 2 |pages= 195–203 |year= 2003 |pmid= 12160733 |doi=10.1006/geno.2002.6823 }}
*{{cite journal | vauthors=Rivolta C, Berson EL, Dryja TP |title=Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A |journal=Arch. Ophthalmol. |volume=120 |issue= 11 |pages= 1566–71 |year= 2002 |pmid= 12427073 |doi= 10.1001/archopht.120.11.1566|s2cid=12112879 |doi-access= }}
*{{cite journal |vauthors=Pearsall N, Bhattacharya G, Wisecarver J, etal |title=Usherin expression is highly conserved in mouse and human tissues |journal=Hear. Res. |volume=174 |issue= 1–2 |pages= 55–63 |year= 2003 |pmid= 12433396 |doi=10.1016/S0378-5955(02)00635-4 |s2cid=31139976 }}
*{{cite journal |vauthors=Bernal S, Ayuso C, Antiñolo G, etal |title=Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation |journal=J. Med. Genet. |volume=40 |issue= 1 |pages= 8e–8 |year= 2003 |pmid= 12525556 |doi=10.1136/jmg.40.1.e8 | pmc=1735247 }}
*{{cite journal |vauthors=Bhattacharya G, Kalluri R, Orten DJ, etal |title=A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure |journal=J. Cell Sci. |volume=117 |issue= Pt 2 |pages= 233–42 |year= 2004 |pmid= 14676276 |doi= 10.1242/jcs.00850 |s2cid=26953433 |doi-access= }}
*{{cite journal |vauthors=Aller E, Nájera C, Millán JM, etal |title=Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments |journal=Eur. J. Hum. Genet. |volume=12 |issue= 5 |pages= 407–10 |year= 2004 |pmid= 14970843 |doi= 10.1038/sj.ejhg.5201138 |doi-access= free }}
*{{cite journal |vauthors=van Wijk E, Pennings RJ, te Brinke H, etal |title=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 |journal=Am. J. Hum. Genet. |volume=74 |issue= 4 |pages= 738–44 |year= 2004 |pmid= 15015129 |doi= 10.1086/383096 | pmc=1181950 }}
{{refend}}
==External links==
* [https://www.ncbi.nlm.nih.gov/books/NBK1341/ GeneReviews/NCBI/NIH/UW entry on Usher Syndrome Type II]
{{gene-1-stub}}
---
Adapted from the Wikipedia article [USH2A](https://en.wikipedia.org/wiki/USH2A) by Wikipedia contributors ([contributor history](https://en.wikipedia.org/wiki/USH2A?action=history)). Available under [Creative Commons Attribution-ShareAlike 4.0 International](https://creativecommons.org/licenses/by-sa/4.0/). Changes may have been made.