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Ush2a
Gene Detail
Symbol

Name
ID
Ush2a
Usher syndrome 2A (autosomal recessive, mild)
MGI:1341292
Synonyms
A930011D15Rik, A930037M10Rik, LOC269160, LOC381317, MUSH2A, Usherin
Feature Type
protein coding gene
Genetic Map
Chromosome 1
92.29 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr1:188262023-188965041 bp, + strand
From VEGA annotation of GRCm38

  703019 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:66151  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Ush2a

Human
homologs
Human Homolog USH2A, Usher syndrome 2A (autosomal recessive, mild)
NCBI Gene ID 7399
neXtProt AC  NX_O75445
Human Synonyms  dJ1111A8.1, RP39, US2, USH2
Human Chr (Location)  1q41; chr1:215622894-216423396 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human USH2A
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Gene trapped(1) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a knock-out allele display progressive retinal photoreceptor degeneration along with significantly reduced a- and b-wave amplitudes, and a moderate but nonprogressive high-frequency hearing loss associated with widespread loss of outer hair cells in the basal turn of the cochlea.
 
Human Diseases Modeled Using Mouse Ush2a (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(2)
Interactions
Ush2a interacts with 214 markers (Mir16-1, Mir16-2, Mir17, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (35 annotations)
Process inner ear receptor cell differentiation, maintenance of organ identity, ...
Component apical plasma membrane, basement membrane, ...
Function collagen binding, myosin binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (9)    Tissues (2)    Images (8)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 9
cDNA source data(2)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(5) cDNA(3) Primer pair(2)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000018252 (Evidence)
Ensembl Gene ModelENSMUSG00000026609 (Evidence)
Entrez Gene22283 (Evidence)
DFCITC1592289, TC1595910, TC1619700, TC1698426
DoTSDT.101240790, DT.101344135, DT.110903545, DT.91328864, DT.91553186
NIA Mouse Gene IndexU001261
Consensus CDS ProjectCCDS15607.1
International Mouse Knockout Project StatusUsh2a
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018252 VEGA Gene Model | MGI Sequence Detail 703019 C57BL/6J ±  kb
transcript OTTMUST00000044109 VEGA | MGI Sequence Detail 15695 Not Applicable 
polypeptide OTTMUSP00000019826 VEGA | MGI Sequence Detail 5193 Not Applicable 

For the selected sequences
All sequences(41) RefSeq(4) UniProt(5)
Polymorphisms
SNPs within 2kb(5898 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008985 Concanavalin A-like lectin/glucanases superfamily
InterPro IPR013320 Concanavalin A-like lectin/glucanase, subgroup
InterPro IPR002049 EGF-like, laminin
InterPro IPR003961 Fibronectin, type III
InterPro IPR013783 Immunoglobulin-like fold
InterPro IPR001791 Laminin G domain
InterPro IPR008211 Laminin, N-terminal
InterPro IPR026915 Usherin
Protein Ontology PR:000017141 usherin
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:209073 Zou J, et al., Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice. Hum Mol Genet. 2014 May 1;23(9):2374-90
All references(42)
Disease annotation references (1)
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
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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory