USH2A

Identifiers

USH2A, RP39, US2, USH2, dJ1111A8.1, Usher syndrome 2A (autosomal recessive, mild), usherin

External IDs

MGI: 1341292 HomoloGene: 66151 GeneCards: USH2A

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
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
Sources:Amigo / QuickGO

RNA expression pattern

More reference expression data

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_067383.3 NP_067383

Location (UCSC)

Chr 1: 215.62 – 216.42 Mb

Chr 1: 188.26 – 188.97 Mb

PubMed search

NP_067383.3
NP_067383

Usherin is a protein that in humans is encoded by the USH2A gene.

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.

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