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QuickView for USH2A (gene)

Gene Symbol:
USH2A Homo sapiens Homo sapiens
Full name:
RP39, US2, USH2, dJ1111A8.1, usherin, Usher syndrome 2A (autosomal recessive, mild), usher syndrome type IIa protein, usher syndrome type-2A protein
Genomic Location:
Chr 1: 213862859-214663361
This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and 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 and retinitis pigmentosa. ...
Mus musculus Rattus norvegicus Macaca mulatta Gallus gallus Pan troglodytes Canis lupus familiaris Danio rerio
External Links:
Entrez Gene
miRNA binding sites
(Source: TargetScan):
Cytogenetic Map:
chr 1

Transcripts Names
Protein Names

GO Molecular Function

protein-containing complex binding | myosin binding | cytoskeletal protein binding | collagen binding | identical protein binding | protein binding | protein homodimerization activity | protein dimerization activity

GO Biological Process

establishment of localization | negative regulation of cellular process | cell differentiation | nervous system development | neurogenesis | generation of neurons | sensory perception of mechanical stimulus | tissue homeostasis | cellular process | localization | macromolecule localization | tissue development | regulation of cell differentiation | anatomical structure homeostasis | regulation of cellular process | epithelium development | response to stimulus | multicellular organismal homeostasis | inner ear receptor cell differentiation | hair cell differentiation | system development | multicellular organism development | mechanoreceptor differentiation | nervous system process | epidermal cell differentiation | epidermis development | sensory organ development | sensory perception of sound | inner ear development | homeostatic process | neuron differentiation | anatomical structure development | visual perception | maintenance of animal organ identity | ear development | animal organ development | sensory perception of light stimulus | retina homeostasis | photoreceptor cell maintenance | establishment of protein localization | sensory perception | protein localization | regulation of developmental process | developmental process | epithelial cell differentiation | negative regulation of cell differentiation | multicellular organismal process

GO Cellular Component

ciliary transition zone | non-motile cilium | integral component of membrane | stereocilium bundle | apical plasma membrane | neuron projection | stereocilia ankle link complex | extracellular matrix | basement membrane | cell projection membrane | microtubule organizing center | actin-based cell projection | cell | periciliary membrane compartment | intrinsic component of membrane | cytoplasm | collagen-containing extracellular matrix | intracellular organelle | stereocilia ankle link | leading edge membrane | apical part of cell | protein-containing complex | cell projection | plasma membrane | photoreceptor connecting cilium | cell leading edge | cilium | photoreceptor inner segment | stereocilium | microtubule cytoskeleton | stereocilium membrane | 9+0 non-motile cilium | photoreceptor cell cilium | extracellular region | organelle | cell periphery | USH2 complex | cytoskeleton | intracellular | membrane | neuron projection membrane | ciliary basal body