USH2A

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USH2A
Identifiers
Aliases USH2A, RP39, US2, USH2, dJ1111A8.1, Usher syndrome 2A (autosomal recessive, mild), usherin
External IDs MGI: 1341292 HomoloGene: 66151 GeneCards: USH2A
Gene location (Human)
Chromosome 1 (human)
Chr. Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for USH2A
Genomic location for USH2A
Band 1q41 Start 215,622,894 bp[1]
End 216,423,396 bp[1]
RNA expression pattern
PBB GE USH2A 207706 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
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

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

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.[7]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000042781 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026609 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  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 1288187Freely accessible. PMID 10729113. 
  7. ^ "Entrez Gene: USH2A Usher syndrome 2A (autosomal recessive, mild)". 

Further reading[edit]

External links[edit]