Version 5.4
Mus musculus Gene: Ush2a
Summary
InnateDB Gene IDBG-208269.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Ush2a
Gene Name Usher syndrome 2A (autosomal recessive, mild)
Synonyms A930011D15Rik; A930037M10Rik; Gm676; Gm983; Mush2a; Usherin
Species Mus musculus
Ensembl Gene ENSMUSG00000026609
Encoded Proteins
IDBP-208275
Usher syndrome 2A (autosomal recessive, mild) homolog (human)
IDBP-538237
Usher syndrome 2A (autosomal recessive, mild) homolog (human)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000042781:
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 1:188262023-188965041
Strand Forward strand
Band H6
Transcripts
ENSMUST00000060479 ENSMUSP00000050454
ENSMUST00000142189
ENSMUST00000124358
ENSMUST00000142159
ENSMUST00000127077 ENSMUSP00000121033
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [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:0002141 stereocilia ankle link
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
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000042781
View Gene Order
ENSBTAG00000006188
Not yet available
Cross-References
SwissProt Q2QI47
TrEMBL
UniProt Splice Variant
Entrez Gene 22283
UniGene Mm.331238 Mm.483632
RefSeq NM_021408 XM_006497138
OMIM
CCDS CCDS15607
HPRD
IMGT
MGI ID MGI:1341292
MGI Symbol Ush2a
EMBL AC121799 AC121892 AC122122 AC129312 AC135863 AC165230 AF151717 DQ073638
GenPept AAF70550 AAZ23164
RNA Seq Atlas 22283

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca