USH2A
| Usher syndrome 2A (autosomal recessive, mild) | |||||||||||
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| Identifiers | |||||||||||
| Symbols | USH2A ; US2; USH2; dJ1111A8.1 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 66151 | ||||||||||
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| RNA expression pattern | |||||||||||
| File:PBB GE USH2A 207706 at tn.png | |||||||||||
| More reference expression data | |||||||||||
| Orthologs | |||||||||||
| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
| Ensembl | n/a | n/a | |||||||||
| UniProt | n/a | n/a | |||||||||
| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
| PubMed search | n/a | n/a | |||||||||
Usher syndrome 2A (autosomal recessive, mild), also known as USH2A, is a human gene.
This gene encodes a protein 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.[1]
References
Further reading
- Ahmed ZM, Riazuddin S, Riazuddin S, Wilcox ER (2004). "The molecular genetics of Usher syndrome". Clin. Genet. 63 (6): 431–44. 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.
- Eudy JD, Weston MD, Yao S; et al. (1998). "Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa". Science. 280 (5370): 1753–7. PMID 9624053.
- 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. PMID 10090909.
- Weston MD, Eudy JD, Fujita S; et al. (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. PMID 10729113.
- 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. 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. 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. 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. 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. 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. 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. 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. PMID 15015129.
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