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USH2A Usher syndrome 2A (autosomal recessive, mild) [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_007123 Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $2699.00 30
NM_206933 Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock TBD TBD

*Business Day

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Gene Symbol USH2A
Entrez Gene ID 7399
Full Name Usher syndrome 2A (autosomal recessive, mild)
Synonyms RP39, US2, USH2, dJ1111A8.1
General protein information
Preferred Names
usherin
Names
usherin
usher syndrome type-2A protein
usher syndrome type IIa protein
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

1

1q41

Summary 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008].
Disorder

MIM: 608400

Usher syndrome, type 2A, 276901 (3); Retinitis pigmentosa-39, 268000

mRNA Protein Product Sequence Price Select
NM_007123, 219842258 NP_009054, 219842259 usherin isoform A ORF Sequence $2500.00
NM_206933, 219842265 NP_996816, 219842266 usherin isoform B ORF Sequence $-1.00
Homo sapiens (human)USH2ANP_996816.2
Pan troglodytes (chimpanzee)USH2AXP_514197.2
Macaca mulatta (Rhesus monkey)USH2AXP_002801987.1
Canis lupus familiaris (dog)USH2AXP_545710.2
Bos taurus (cattle)USH2ANP_001178354.1
Mus musculus (house mouse)Ush2aNP_067383.3
Rattus norvegicus (Norway rat)Ush2aNP_001231686.1
Gallus gallus (chicken)USH2AXP_419417.3
Danio rerio (zebrafish)ush2aXP_697435.5
Process
IDNameEvidence
GO:0007601visual perceptionIEA
GO:0007605sensory perception of soundIMP
GO:0035315hair cell differentiationISS
GO:0045494photoreceptor cell maintenanceIMP
GO:0048496maintenance of organ identityIMP
GO:0050896response to stimulusIEA
GO:0050953sensory perception of light stimulusIMP
GO:0060113inner ear receptor cell differentiationISS
Component
IDNameEvidence
GO:0002142stereocilia ankle link complexISS
GO:0005604basement membraneIDA
GO:0005737cytoplasmIDA
GO:0016021integral component of membraneIEA
GO:0016324apical plasma membraneISS
GO:0032421stereocilium bundleISS
GO:0060171stereocilium membraneISS
Function
IDNameEvidence
GO:0005515protein bindingIPI
GO:0005518collagen bindingIDA
GO:0017022myosin bindingISS
GeneCards USH2A
UniProt O75445
Vega OTTHUMG00000037079
MIM 608400
Ensembl ENSG00000042781
HGNC 12601
HPRD 09759

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the USH2A gene?

The USH2A gene provides instructions for making a protein called usherin. Usherin is an important component of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. Usherin is found in the inner ear and the layer of light-sensitive tissue at the back of the eye (the retina). Although the function of usherin has not been well established, studies suggest that it is part of a group of proteins (a protein complex) that plays an important role in inner ear and retinal development. In these locations, the protein complex may also be involved in the function of synapses, which are junctions between nerve cells where cell-to-cell communication occurs.

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