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; chr1:215796236-216596738 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human USH2A

Alleles and phenotypes

All alleles(4) : Targeted(3) Gene trapped(1)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (29 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: (4 records)
Data Summary: Results (9)    Tissues (2)    Images (8)
Theiler Stages: 23

Assay Type	Results
RNA in situ	9

cDNA source data(2)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(5) cDNA(3) Primer pair(2)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000018252 (Evidence)
Ensembl Gene Model	ENSMUSG00000026609 (Evidence)
Entrez Gene	22283 (Evidence)
DFCI	TC1592289, TC1595910, TC1619700, TC1698426
DoTS	DT.101240790, DT.101344135, DT.110903545, DT.91328864, DT.91553186
NIA Mouse Gene Index	U001261
Consensus CDS Project	CCDS15607.1
International Mouse Knockout Project Status	Ush2a

Sequences

Length	Strain/Species
genomic	OTTMUSG00000018252	VEGA Gene Model | MGI Sequence Detail	703019	C57BL/6J
transcript	OTTMUST00000044109	VEGA | MGI Sequence Detail	15695	Not Applicable
polypeptide	OTTMUSP00000019826	VEGA | MGI Sequence Detail	5193	Not Applicable

All sequences(39) RefSeq(2) UniProt(5)

Polymorphisms

SNPs(4067 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(40)

Other accession IDs

MGI:1924350, MGI:2685522, MGI:2685829