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Sequence in raw or FASTA format:

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


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu17632 NM_007123 Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand 30 $2699.00
OHu19218 NM_206933 Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. pcDNA3.1+-DYK In-stock -1 TBD
OHu17632C NM_007123 Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 1, mRNA. Customized vector On-demand 30 $2699.00
OHu19218C NM_206933 Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. Customized vector In-stock -1 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?

Interactant

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