USH2A

Usherin is a protein that in humans is encoded by the USH2A gene.[5][6]

USH2A
Identifiers
Aliases	USH2A, RP39, US2, USH2, dJ1111A8.1, Usher syndrome 2A (autosomal recessive, mild), usherin
External IDs	OMIM: 608400 MGI: 1341292 HomoloGene: 66151 GeneCards: USH2A
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q41 Start 215,622,891 bp[1] End 216,423,448 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1 H6|1 92.29 cM Start 188,262,023 bp[2] End 188,965,041 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • protein homodimerization activity • collagen binding • myosin binding • GO:0001948 protein binding Cellular component • cytoplasm • stereocilium bundle • integral component of membrane • ciliary basal body • cell projection • stereocilium membrane • membrane • photoreceptor inner segment • stereocilia ankle link complex • cell membrane • photoreceptor connecting cilium • stereocilia ankle link • extracellular region • basement membrane • USH2 complex • apical plasma membrane • periciliary membrane compartment • neuronal cell body • terminal bouton • stereocilium • synapse Biological process • response to stimulus • establishment of protein localization • hair cell differentiation • sensory perception of light stimulus • sensory perception of sound • inner ear receptor cell differentiation • photoreceptor cell maintenance • maintenance of animal organ identity • visual perception • retina development in camera-type eye • animal organ morphogenesis • histogenesis • neurogenesis Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	7399	22283
Ensembl	ENSG00000042781	ENSMUSG00000026609
UniProt	O75445	Q2QI47
RefSeq (mRNA)	NM_206933 NM_007123	NM_021408
RefSeq (protein)	NP_009054 NP_996816	NP_067383
Location (UCSC)	Chr 1: 215.62 – 216.42 Mb	Chr 1: 188.26 – 188.97 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

This gene encodes the protein Usherin that contains laminin EGF motifs, a pentraxin 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.[7]

References

1. GRCh38: Ensembl release 89: ENSG00000042781 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000026609 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "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" (PDF). 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): 8e–8. 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