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 187,994,220 bp[2] End 188,697,238 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver sperm islet of Langerhans testicle prefrontal cortex left ventricle kidney adrenal gland kidney fundus Top expressed in spermatid Jacobson's organ spermatocyte secondary oocyte morula lens blastocyst islet of Langerhans gonad male reproductive system More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein homodimerization activity collagen binding myosin binding 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 plasma 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 tissue development 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: 187.99 – 188.7 Mb PubMed search [3] [4]
Wikidata
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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 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]