USH2A

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)
End	216,423,448 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	188,697,238 bp
RNA expression pattern
	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
	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
	7399
	22283
	ENSG00000042781
	ENSMUSG00000026609
	O75445
	Q2QI47
	NM_206933; NM_007123
	NM_021408
	NP_009054; NP_996816
	NP_067383
	Wikidata
View/Edit Human	View/Edit Mouse

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 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.