USH2A

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

AliasesUSH2A, RP39, US2, USH2, dJ1111A8.1, Usher syndrome 2A (autosomal recessive, mild), usherin

External IDsOMIM: 608400; MGI: 1341292; HomoloGene: 66151; GeneCards: USH2A; OMA:USH2A - orthologs

Chr.Chromosome 1 (human)^[1]

End216,423,448 bp^[1]

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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; OMA:USH2A - orthologs
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 testicle right lobe of liver gonad sperm islet of Langerhans right testis left testis apex of heart muscle of thigh right auricle of heart Top expressed in neural layer of retina zygote spermatid Jacobson's organ spermatocyte secondary oocyte embryo primary oocyte morula blastocyst 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 soma terminal bouton stereocilium synapse Biological process response to stimulus establishment of protein localization hair cell differentiation sensory perception of light stimulus hearing 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]
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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]