ENSMUSG00000026609


Mus musculus

Features
Gene ID: ENSMUSG00000026609
  
Biological name :Ush2a
  
Synonyms : Q2QI47 / Ush2a / usherin
  
Possible biological names infered from orthology : O75445
  
Species: Mus musculus
  
Chr. number: 1
Strand: 1
Band: H6
Gene start: 188262023
Gene end: 188965041
  
Corresponding Affymetrix probe sets: 10352586 (MoGene1.0st)   1421697_at (Mouse Genome 430 2.0 Array)   1431750_at (Mouse Genome 430 2.0 Array)   1445972_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000050454
Ensembl peptide - ENSMUSP00000121033
NCBI entrez gene - 22283     See in Manteia.
MGI - MGI:1341292
RefSeq - NM_021408
RefSeq Peptide - NP_067383
swissprot - F6TQ19
swissprot - Q2QI47
Ensembl - ENSMUSG00000026609
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ush2aENSDARG00000029482Danio rerio
 ENSGALG00000045563Gallus gallus
 ENSGALG00000009652Gallus gallus
 ENSGALG00000044419Gallus gallus
 USH2AENSG00000042781Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Megf9 / Q8BH27 / Multiple epidermal growth factor-like domains protein 9 / Q9H1U4* / multiple EGF like domains 9*ENSMUSG000000392703
Q3UUG6 / Q9R1A3 / Tbc1d24 / Netrin-3 / NTN3* / O00634*ENSMUSG000000364733
Ntn1 / O09118 / Netrin-1 / O95631*ENSMUSG000000209023
Ntng1 / Q8R4G0 / Netrin-G1 / Q9Y2I2*ENSMUSG000000598572
Ntn5 / Q3UQ22 / Netrin-5 / Q8WTR8*ENSMUSG000000705642
Ntng2 / Q8R4F1 / Netrin-G2 / Q96CW9*ENSMUSG000000355132


Protein motifs (from Interpro)
Interpro ID Name
 IPR001791  Laminin G domain
 IPR002049  Laminin EGF domain
 IPR003961  Fibronectin type III
 IPR006558  LamG-like jellyroll fold
 IPR008211  Laminin, N-terminal
 IPR008979  Galactose-binding-like domain superfamily
 IPR013320  Concanavalin A-like lectin/glucanase domain superfamily
 IPR013783  Immunoglobulin-like fold
 IPR026915  Usherin
 IPR036116  Fibronectin type III superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0007605 sensory perception of sound IEA
 biological_processGO:0035315 hair cell differentiation IEP
 biological_processGO:0045184 establishment of protein localization IMP
 biological_processGO:0045494 photoreceptor cell maintenance IEA
 biological_processGO:0048496 maintenance of animal organ identity IEA
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0050953 sensory perception of light stimulus IEA
 biological_processGO:0060113 inner ear receptor cell differentiation IMP
 cellular_componentGO:0001917 photoreceptor inner segment IDA
 cellular_componentGO:0002141 stereocilia ankle link NAS
 cellular_componentGO:0002142 stereocilia ankle link complex IDA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005604 basement membrane IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IDA
 cellular_componentGO:0032391 photoreceptor connecting cilium IDA
 cellular_componentGO:0032421 stereocilium bundle IDA
 cellular_componentGO:0036064 ciliary basal body IDA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0060171 stereocilium membrane IDA
 cellular_componentGO:1990075 periciliary membrane compartment IDA
 cellular_componentGO:1990696 USH2 complex IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005518 collagen binding IEA
 molecular_functionGO:0017022 myosin binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001004 abnormal photoreceptor morphology "structural or developmental anomaly of the receptors sensitive to light " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Myh10tm5Rsad/Myh10tm5Rsad,Tg(CMV-cre)1Cgn/0
Genetic Background: involves: 129S6/SvEvTac * BALB/cJ * C57BL/6

 MP:0003728 abnormal photoreceptor layer "malformation/anomalous structure of the photoreceptor layer" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Myh10tm5Rsad/Myh10tm5Rsad,Tg(CMV-cre)1Cgn/0
Genetic Background: involves: 129S6/SvEvTac * BALB/cJ * C57BL/6

 MP:0004402 decreased cochlear outer hair cell number "decreased number (or less than the expected 3 rows) of the columnar outer hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Myh10tm5Rsad/Myh10tm5Rsad,Tg(CMV-cre)1Cgn/0
Genetic Background: involves: 129S6/SvEvTac * BALB/cJ * C57BL/6

 MP:0004736 abnormal distortion product otoacoustic emission "any abnormality in the sound produced by the cochlea in response to stimulation with 2 simultaneous tones of different frequencies; this measurement is particularly useful in assessing the functional state of OHCs" [eMedicine:http://www.emedicine.com/ent/topic372.htm, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Myh10tm5Rsad/Myh10tm5Rsad,Tg(CMV-cre)1Cgn/0
Genetic Background: involves: 129S6/SvEvTac * BALB/cJ * C57BL/6

Allelic Composition: Cdh23Ahl+/Cdh23Ahl+,Ush2atm1Tili/Ush2atm1Tili
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CAST/EiJ * CBA/CaJ

 MP:0005551 abnormal eye electrophysiology "abnormal function of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram)" [NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
Show

Allelic Composition: Myh10tm5Rsad/Myh10tm5Rsad,Tg(CMV-cre)1Cgn/0
Genetic Background: involves: 129S6/SvEvTac * BALB/cJ * C57BL/6

 MP:0008444 retinal cone cell degeneration "a retrogressive impairment of function or destruction of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment" [MESH:A08.663.650.650.670.100, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Myh10tm5Rsad/Myh10tm5Rsad,Tg(CMV-cre)1Cgn/0
Genetic Background: involves: 129S6/SvEvTac * BALB/cJ * C57BL/6

 MP:0008450 retinal photoreceptor degeneration "a retrogressive impairment of function or destruction of a cell specialized to detect and transduce light, including rods and cones of the retina" [MESH:A08.663.650.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Myh10tm5Rsad/Myh10tm5Rsad,Tg(CMV-cre)1Cgn/0
Genetic Background: involves: 129S6/SvEvTac * BALB/cJ * C57BL/6

 MP:0008582 short photoreceptor inner segment "decreased length of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Myh10tm5Rsad/Myh10tm5Rsad,Tg(CMV-cre)1Cgn/0
Genetic Background: involves: 129S6/SvEvTac * BALB/cJ * C57BL/6

 MP:0008587 short photoreceptor outer segment "decreased length of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Myh10tm5Rsad/Myh10tm5Rsad,Tg(CMV-cre)1Cgn/0
Genetic Background: involves: 129S6/SvEvTac * BALB/cJ * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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