USH2A

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Usher syndrome 2A (autosomal recessive, mild)
Identifiers
Symbols USH2A ; RP39; US2; USH2; dJ1111A8.1
External IDs OMIM608400 MGI1341292 HomoloGene66151 GeneCards: USH2A Gene
RNA expression pattern
PBB GE USH2A 207706 at tn.png
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:
215.8 – 216.6 Mb
Chr 1:
188.26 – 188.97 Mb
PubMed search [1] [2]

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[edit]

  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[edit]

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