USH2A

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USH2A
Identifiers
Aliases USH2A, RP39, US2, USH2, dJ1111A8.1, Usher syndrome 2A (autosomal recessive, mild)
External IDs MGI: 1341292 HomoloGene: 66151 GeneCards: 7399
RNA expression pattern
PBB GE USH2A 207706 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_206933
NM_007123

NM_021408

RefSeq (protein)

NP_009054.5
NP_996816.2

NP_067383.3

Location (UCSC) Chr 1: 215.62 – 216.42 Mb Chr 1: 188.26 – 188.97 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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]

External links[edit]