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
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
	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
	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
	7399
	22283
	ENSG00000042781
	ENSMUSG00000026609
	O75445
	Q2QI47
	NM_206933; NM_007123
	NM_021408
	NP_009054; NP_996816
	NP_067383
	Wikidata
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