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Ush2a Gene Detail
 Symbol
Name
ID
Ush2a
Usher syndrome 2A (autosomal recessive, mild) homolog (human)
MGI:1341292


Nomenclature History
Synonyms A930011D15Rik, A930037M10Rik, LOC269160, LOC381317, MUSH2A, Usherin
Genetic Map
Chromosome 1
106.3 cM
Detailed Genetic Map ± 1 cM
 
Mapping data( 3)

Sequence Map
Chr1:190085902-190788920 bp, + strand
(From VEGA annotation of NCBI Build 37)
VEGA ContigView | Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; dog, domestic; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Ush2a ± 2 cM)
TreeFam: TF330287
Sequences
Representative Sequences Length Strain/Species Flank
genomic OTTMUSG00000018252 VEGA Gene Model | MGI Sequence Detail 703019 C57BL/6J ± Kb
transcript NM_021408 RefSeq | MGI Sequence Detail 15891 C57BL/6
polypeptide Q2QI47 UniProt | EBI | MGI Sequence Detail 5193 Not Applicable
For the selected sequences
All sequences(20)
Alleles
and
phenotypes
All alleles(2) : Targeted, knock-out(1) Gene trapped(1)
Associated Human Diseases (1)   Alleles Annotated to Human Diseases (1)   Phenotype Images (2)  
Polymorphisms SNPs within 2kb(4083 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications(18)
Process inner ear receptor cell differentiation, photoreceptor cell maintenance...
Component apical plasma membrane, basement membrane...
Function collagen binding, myosin binding...
This is a GO Consortium Reference Genome Project gene.
External Resources: MouseFunc
Expression Literature Summary: (2 records)
cDNA source data(1)
External Resources: Allen Brain Atlas  GEO 
Molecular
reagents
All nucleic(4) cDNA(2) Primer pair(2)
Microarray probesets(2)
Other database
links
Ensembl Gene Model ENSMUSG00000026609
DoTS DT.101240790, DT.101344135, DT.110903545, DT.91328864
DFCI TC1595910, TC1619700, TC1698426
NIA Mouse Gene Index U001261
Entrez Gene 22283
VEGA Gene Model OTTMUSG00000018252
International Mouse Knockout Project Status Ush2a
Protein
domains
InterPro ID Description
IPR001791 Laminin G
IPR002049 EGF-like, laminin
IPR003961 Fibronectin, type III
IPR008211 Laminin, N-terminal
IPR008957 Fibronectin, type III-like fold
IPR008985 Concanavalin A-like lectin/glucanase
IPR012680 Laminin G, subdomain 2
IPR013032 EGF-like region, conserved site
IPR013320 Concanavalin A-like lectin/glucanase, subgroup
Graphical View of Protein Domain Structure
References
(Earliest) J:56089 Danciger JS et al., "Genetic and physical maps of the mouse rd3 locus; exclusion of the ortholog of USH2A." Mamm Genome 1999 Jul;10(7):657-61
(Latest) J:122415 Michalski N et al., "Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning." J Neurosci 2007 Jun 13;27(24):6478-88
All references(11)
Other
accession IDs
MGI:1924350, MGI:2685522, MGI:2685829

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/20/2009
MGI_4.31
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The Jackson Laboratory