ENSMUSG00000025504


Mus musculus

Features
Gene ID: ENSMUSG00000025504
  
Biological name :Eps8l2
  
Synonyms : Epidermal growth factor receptor kinase substrate 8-like protein 2 / Eps8l2 / Q99K30
  
Possible biological names infered from orthology : EPS8 like 2 / Q9H6S3
  
Species: Mus musculus
  
Chr. number: 7
Strand: 1
Band: F5
Gene start: 141338880
Gene end: 141363020
  
Corresponding Affymetrix probe sets: 10558880 (MoGene1.0st)   1417843_s_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000120726
Ensembl peptide - ENSMUSP00000026577
NCBI entrez gene - 98845     See in Manteia.
MGI - MGI:2138828
RefSeq - NM_133191
RefSeq Peptide - NP_573454
swissprot - D3YWI5
swissprot - Q99K30
Ensembl - ENSMUSG00000025504
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 eps8l2ENSDARG00000058108Danio rerio
 si:dkey-287h13.1ENSDARG00000069011Danio rerio
 EPS8L2ENSGALG00000043025Gallus gallus
 EPS8L2ENSG00000177106Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Eps8 / Q08509 / Epidermal growth factor receptor kinase substrate 8 / Q12929* / epidermal growth factor receptor pathway substrate 8*ENSMUSG0000001576643
Eps8l1 / Q8R5F8 / Epidermal growth factor receptor kinase substrate 8-like protein 1 / Q8TE68* / EPS8 like 1*ENSMUSG0000000615438
Eps8l3 / Q91WL0 / Epidermal growth factor receptor kinase substrate 8-like protein 3 / Q8TE67* / EPS8 like 3*ENSMUSG0000004060024


Protein motifs (from Interpro)
Interpro ID Name
 IPR001452  SH3 domain
 IPR006020  PTB/PI domain
 IPR011993  PH-like domain superfamily
 IPR013625  Tensin/EPS8 phosphotyrosine-binding domain
 IPR033928  Epidermal growth factor receptor kinase substrate, phosphotyrosine-binding domain
 IPR035462  Eps8, SH3 domain
 IPR036028  SH3-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007266 Rho protein signal transduction IEA
 biological_processGO:0007605 sensory perception of sound IDA
 biological_processGO:0016601 Rac protein signal transduction ISO
 biological_processGO:0035023 regulation of Rho protein signal transduction IEA
 biological_processGO:0065009 regulation of molecular function IEA
 biological_processGO:1900029 positive regulation of ruffle assembly IEA
 cellular_componentGO:0001726 ruffle ISO
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0032420 stereocilium IEA
 cellular_componentGO:0032421 stereocilium bundle IDA
 cellular_componentGO:0032426 stereocilium tip IDA
 cellular_componentGO:0032587 ruffle membrane IEA
 cellular_componentGO:0032991 protein-containing complex IEA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005089 Rho guanyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0030676 Rac guanyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0045296 cadherin binding IEA
 molecular_functionGO:0051015 actin filament binding ISO


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0002622 abnormal cochlear hair cell morphology "malformation of the sensory epithelial cells of the cochlea; these cells are in synaptic contact with the auditory nerve" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Map2repro4/Map2repro4
Genetic Background: C3.B6-Map2repro4

 MP:0004417 decreased cochlear nerve compound action potential "reduction of the combined potentials resulting from activation of the auditory division of the eighth cranial nerve" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Map2repro4/Map2repro4
Genetic Background: C3.B6-Map2repro4

 MP:0004521 abnormal cochlear hair cell stereociliary bundle morphology "any structural anomaly or disruption of the typical pattern of arrangement of mechanosensitive hair bundles which are composed of thick long microvilli (stereocilia) and are located at the apical end of cochlear inner and outer hair cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Map2repro4/Map2repro4
Genetic Background: C3.B6-Map2repro4

Allelic Composition: Eps8tm1Ppdf/Eps8tm1Ppdf,Eps8l2tm1Wma/Eps8l2tm1Wma
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0004524 short cochlear hair cell stereocilia "reduced length of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner and outer hair cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Map2repro4/Map2repro4
Genetic Background: C3.B6-Map2repro4

 MP:0004534 decreased inner hair cell stereocilia number "decreased number (or less than the expected 100 or so) of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear inner hair cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Map2repro4/Map2repro4
Genetic Background: C3.B6-Map2repro4

 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: Map2repro4/Map2repro4
Genetic Background: C3.B6-Map2repro4

 MP:0004738 abnormal brainstem auditory evoked potential "anomaly in the electrical activity generated in response to short tone bursts; may be used to evaluate sensorineural hearing function" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Map2repro4/Map2repro4
Genetic Background: C3.B6-Map2repro4

 MP:0004742 abnormal vestibular system physiology "any functional anomaly of the sensory system responsible for the sense of head position and movement of the body through space; such anomalies may include impaired balance, dizziness, poor regulation of postural muscle tone and inability to detect quick movements of the head " [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Map2repro4/Map2repro4
Genetic Background: C3.B6-Map2repro4

 MP:0006325 impaired hearing "reduced ability to percieve auditory stimuli" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Map2repro4/Map2repro4
Genetic Background: C3.B6-Map2repro4

 MP:0006335 abnormal hearing electrophysiology "anomaly in auditory function as it relates to electrical phenomena" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Map2repro4/Map2repro4
Genetic Background: C3.B6-Map2repro4

 MP:0006388 abnormal auditory summating potiential "any anomaly in the dc shift in the waveform sustained for the duration of a toneburst stimulus that represents the depolarization of sensory hair cells in the cochlea; positive summating potentials (SPs) reflect activity of basal turn hair cells while negative SPs are derived from hair cell activity in the apical turn; negative SPs tend to be obtained at low frequencies and low intensities of stimulus, while positive SPs are recorded in response to high frequencies and high intensities " [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:1526886]
Show

Allelic Composition: Map2repro4/Map2repro4
Genetic Background: C3.B6-Map2repro4

 MP:0011967 increased or absent threshold for auditory brainstem response "increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]
Show

Allelic Composition: Map2repro4/Map2repro4
Genetic Background: C3.B6-Map2repro4

  


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






 

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