USH2A

Usher syndrome 2A (autosomal recessive, mild)
Identifiers
Symbols	USH2A ; RP39; US2; USH2; dJ1111A8.1
External IDs	OMIM: 608400 MGI: 1341292 HomoloGene: 66151 GeneCards: USH2A Gene
Gene ontology Molecular function • protein binding • collagen binding • myosin binding Cellular component • photoreceptor inner segment • stereocilia ankle link complex • basement membrane • cytoplasm • integral component of membrane • apical plasma membrane • photoreceptor connecting cilium • stereocilium bundle • stereocilium membrane • periciliary membrane compartment Biological process • visual perception • sensory perception of sound • hair cell differentiation • establishment of protein localization • photoreceptor cell maintenance • maintenance of organ identity • response to stimulus • sensory perception of light stimulus • inner ear receptor cell differentiation Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	7399	22283
Ensembl	ENSG00000042781	ENSMUSG00000026609
UniProt	O75445	Q2QI47
RefSeq (mRNA)	NM_007123	NM_021408
RefSeq (protein)	NP_009054	NP_067383
Location (UCSC)	Chr 1: 215.62 – 216.42 Mb	Chr 1: 188.26 – 188.97 Mb
PubMed search

Usherin is a protein that in humans is encoded by the USH2A gene.^[1][2]

This gene encodes the protein Usherin that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The encoded 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 type IIa. Alternatively spliced transcript variants that encode different isoforms have been described.^[3]

References

1. 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 (Jul 1998). "Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa". Science 280 (5370): 1753–7. doi:10.1126/science.280.5370.1753. PMID 9624053.
2. 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 (May 2000). "Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa". Am J Hum Genet 66 (4): 1199–210. doi:10.1086/302855. PMC 1288187. PMID 10729113.
3. "Entrez Gene: USH2A Usher syndrome 2A (autosomal recessive, mild)".

Further reading

• Michalski N, Michel V, Bahloul A, Lefèvre G, Barral J, Yagi H, Chardenoux S, Weil D, Martin P, Hardelin JP, Sato M, Petit C. (2007). "Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning.". J Neurosci. 27 (24): 6478–88. doi:10.1523/JNEUROSCI.0342-07.2007. PMID 17567809.
• Liu X, Bulgakov OV, Darrow KN, Pawlyk B, Adamian M, Liberman MC, Li T (2007). "Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells.". Proc Natl Acad Sci U S A. 104 (11): 4413–8. doi:10.1073/pnas.0610950104. PMC 1838616. PMID 17360538.
• Ahmed ZM, Riazuddin S, Riazuddin S, Wilcox ER (2004). "The molecular genetics of Usher syndrome.". Clin. Genet. 63 (6): 431–44. doi:10.1034/j.1399-0004.2003.00109.x. PMID 12786748.
• Roland FP (1978). "Management of atypical pneumonias in view of the new entity "Legionnaire's disease".". Rhode Island medical journal 61 (7): 270–2. PMID 276901.
• Liu XZ, Hope C, Liang CY, et al. (2000). "A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation.". Am. J. Hum. Genet. 64 (4): 1221–5. doi:10.1086/302332. PMC 1377848. PMID 10090909.
• Adato A, Weston MD, Berry A, et al. (2000). "Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.". Hum. Mutat. 15 (4): 388. doi:10.1002/(SICI)1098-1004(200004)15:4<388::AID-HUMU27>3.0.CO;2-N. PMID 10738000.
• Rivolta C, Sweklo EA, Berson EL, Dryja TP (2001). "Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.". Am. J. Hum. Genet. 66 (6): 1975–8. doi:10.1086/302926. PMC 1378039. PMID 10775529.
• Dreyer B, Tranebjaerg L, Rosenberg T, et al. (2000). "Identification of novel USH2A mutations: implications for the structure of USH2A protein.". Eur. J. Hum. Genet. 8 (7): 500–6. doi:10.1038/sj.ejhg.5200491. PMID 10909849.
• Leroy BP, Aragon-Martin JA, Weston MD, et al. (2001). "Spectrum of mutations in USH2A in British patients with Usher syndrome type II.". Exp. Eye Res. 72 (5): 503–9. doi:10.1006/exer.2000.0978. PMID 11311042.
• Dreyer B, Tranebjaerg L, Brox V, et al. (2001). "A common ancestral origin of the frequent and widespread 2299delG USH2A mutation.". Am. J. Hum. Genet. 69 (1): 228–34. doi:10.1086/321269. PMC 1226039. PMID 11402400.
• Bhattacharya G, Miller C, Kimberling WJ, et al. (2002). "Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome type IIa.". Hear. Res. 163 (1–2): 1–11. doi:10.1016/S0378-5955(01)00344-6. PMID 11788194.
• Nájera C, Beneyto M, Blanca J, et al. (2002). "Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively". Hum. Mutat. 20 (1): 76–7. doi:10.1002/humu.9042. PMID 12112664.
• Huang D, Eudy JD, Uzvolgyi E, et al. (2003). "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". Genomics 80 (2): 195–203. doi:10.1006/geno.2002.6823. PMID 12160733.
• Rivolta C, Berson EL, Dryja TP (2002). "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". Arch. Ophthalmol. 120 (11): 1566–71. doi:10.1001/archopht.120.11.1566. PMID 12427073.
• Pearsall N, Bhattacharya G, Wisecarver J, et al. (2003). "Usherin expression is highly conserved in mouse and human tissues". Hear. Res. 174 (1–2): 55–63. doi:10.1016/S0378-5955(02)00635-4. PMID 12433396.
• Bernal S, Ayuso C, Antiñolo G, et al. (2003). "Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation". J. Med. Genet. 40 (1): e8. doi:10.1136/jmg.40.1.e8. PMC 1735247. PMID 12525556.
• Bhattacharya G, Kalluri R, Orten DJ, et al. (2004). "A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure". J. Cell. Sci. 117 (Pt 2): 233–42. doi:10.1242/jcs.00850. PMID 14676276.
• Aller E, Nájera C, Millán JM, et al. (2004). "Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments". Eur. J. Hum. Genet. 12 (5): 407–10. doi:10.1038/sj.ejhg.5201138. PMID 14970843.
• van Wijk E, Pennings RJ, te Brinke H, et al. (2004). "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. 74 (4): 738–44. doi:10.1086/383096. PMC 1181950. PMID 15015129.

External links

• GeneReviews/NCBI/NIH/UW entry on Usher Syndrome Type II