Homo sapiens Gene: USH2A
Summary
InnateDB Gene IDBG-106670.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol USH2A
Gene Name Usher syndrome 2A (autosomal recessive, mild)
Synonyms dJ1111A8.1; RP39; US2; USH2;
Species Homo sapiens
Ensembl Gene ENSG00000042781
Encoded Proteins
Usher syndrome 2A (autosomal recessive, mild)
Usher syndrome 2A (autosomal recessive, mild)
Usher syndrome 2A (autosomal recessive, mild)
Protein Structure
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:215622894-216423396
Strand Reverse strand
Band q41
Transcripts
ENST00000307340 ENSP00000305941
ENST00000366943 ENSP00000355910
ENST00000366942 ENSP00000355909
ENST00000481786
ENST00000463147
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0005518 collagen binding
GO:0017022 myosin binding
Biological Process
GO:0007601 visual perception
GO:0007605 sensory perception of sound
GO:0035315 hair cell differentiation
GO:0045494 photoreceptor cell maintenance
GO:0048496 maintenance of organ identity
GO:0050896 response to stimulus
GO:0050953 sensory perception of light stimulus
GO:0060113 inner ear receptor cell differentiation
Cellular Component
GO:0002142 stereocilia ankle link complex
GO:0005604 basement membrane
GO:0005737 cytoplasm
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0032421 stereocilium bundle
GO:0060171 stereocilium membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt O75445
TrEMBL
UniProt Splice Variant
Entrez Gene 7399
UniGene Hs.655974 Hs.738762
RefSeq NM_007123 NM_206933
HUGO HGNC:12601
OMIM 608400
CCDS CCDS1516 CCDS31025
HPRD 09759
IMGT
EMBL AC092799 AC093581 AC119429 AC138024 AF055580 AF091873 AF091874 AF091875 AF091876 AF091877 AF091878 AF091879 AF091880 AF091881 AF091882 AF091883 AF091884 AF091885 AF091886 AF091887 AF091888 AF091889 AL139259 AL358452 AL358858 AL445650 AL513305 AY481573
GenPept AAC23748 AAF75819 AAS47698 CAH70620 CAH70621 CAH71587 CAH71588 CAH73621 CAI19189 CAI23041
ImmGen USH2A (murine)
RNA Seq Atlas 7399