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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

Related Services

Gene Symbol USH2A
Entrez Gene ID 7399
Full Name Usher syndrome 2A (autosomal recessive, mild)
Synonyms RP39, US2, USH2, dJ1111A8.1
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_742045.1
Gallus gallus (chicken)USH2AXP_419417.3
Danio rerio (zebrafish)ush2aXP_697435.4
GeneCards USH2A
UniProt O75445
MIM 608400
Ensembl ENSG00000042781
HGNC 12601
HPRD 09759

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

General protein information

Preferred Names
usherin
Names
usherin
usher syndrome type-2A protein
usher syndrome type IIa protein

Interactant



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