Version 5.4
Bos taurus Gene: USH2A
Summary
InnateDB Gene IDBG-629806.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol USH2A
Gene Name usherin
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000006188
Encoded Proteins
IDBP-681297
Usher syndrome 2A (autosomal recessive, mild)
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 16:19573856-20502175
Strand Reverse strand
Band
Transcripts
ENSBTAT00000061112 ENSBTAP00000053495
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0005518 collagen binding
GO:0017022 myosin binding
Biological Process
GO:0007605 sensory perception of sound
GO:0035315 hair cell differentiation
GO:0045494 photoreceptor cell maintenance
GO:0048496 maintenance of organ identity
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:0016324 apical plasma membrane
GO:0032421 stereocilium bundle
GO:0060171 stereocilium membrane
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
ENSG00000042781
View Gene Order
ENSMUSG00000026609
View Gene Order
Cross-References
SwissProt
TrEMBL E1BP05
UniProt Splice Variant
Entrez Gene 100296635
UniGene Bt.105922
RefSeq NM_001191425 XM_005216779
HUGO HGNC:12601
OMIM
CCDS
HPRD
IMGT
EMBL DAAA02042466 DAAA02042467 DAAA02042468 DAAA02042469 DAAA02042470 DAAA02042471 DAAA02042472 DAAA02042473 DAAA02042474 DAAA02042475 DAAA02042476 DAAA02042477 DAAA02042478 DAAA02042479 DAAA02042480 DAAA02042481 DAAA02042482 DAAA02042483
GenPept
RNA Seq Atlas 100296635

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