ENSG00000151491


Homo sapiens

Features
Gene ID: ENSG00000151491
  
Biological name :EPS8
  
Synonyms : epidermal growth factor receptor pathway substrate 8 / EPS8 / Q12929
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: p12.3
Gene start: 15620158
Gene end: 15882329
  
Corresponding Affymetrix probe sets: 202609_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000496406
Ensembl peptide - ENSP00000496516
Ensembl peptide - ENSP00000281172
Ensembl peptide - ENSP00000437806
Ensembl peptide - ENSP00000438490
Ensembl peptide - ENSP00000438668
Ensembl peptide - ENSP00000440591
Ensembl peptide - ENSP00000441867
Ensembl peptide - ENSP00000441888
Ensembl peptide - ENSP00000442388
Ensembl peptide - ENSP00000442883
Ensembl peptide - ENSP00000444613
Ensembl peptide - ENSP00000445235
Ensembl peptide - ENSP00000445815
Ensembl peptide - ENSP00000445985
Ensembl peptide - ENSP00000494338
Ensembl peptide - ENSP00000494689
Ensembl peptide - ENSP00000494842
Ensembl peptide - ENSP00000495312
Ensembl peptide - ENSP00000495722
Ensembl peptide - ENSP00000495824
Ensembl peptide - ENSP00000495956
NCBI entrez gene - 2059     See in Manteia.
OMIM - 600206
RefSeq - XM_011520605
RefSeq - NM_004447
RefSeq Peptide - NP_004438
swissprot - F5H2B8
swissprot - F5H3Q6
swissprot - F5H714
swissprot - H0YFG1
swissprot - F5GYM8
swissprot - Q12929
swissprot - F5H1B5
swissprot - F5H0R8
Ensembl - ENSG00000151491
  
Related genetic diseases (OMIM): 615974 - ?Deafness, autosomal recessive 102, 615974
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 eps8ENSDARG00000102128Danio rerio
 ENSGALG00000013091Gallus gallus
 Eps8ENSMUSG00000015766Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
EPS8L2 / Q9H6S3 / EPS8 like 2ENSG0000017710639
EPS8L1 / Q8TE68 / EPS8 like 1ENSG0000013103734
EPS8L3 / Q8TE67 / EPS8 like 3ENSG0000019875823


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
 IPR013761  Sterile alpha motif/pointed domain superfamily
 IPR030222  Epidermal growth factor receptor kinase substrate 8
 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:0007165 signal transduction TAS
 biological_processGO:0007173 epidermal growth factor receptor signaling pathway TAS
 biological_processGO:0008283 cell proliferation TAS
 biological_processGO:0008344 adult locomotory behavior IMP
 biological_processGO:0008360 regulation of cell shape ISS
 biological_processGO:0009967 positive regulation of signal transduction IEA
 biological_processGO:0010458 exit from mitosis ISS
 biological_processGO:0016601 Rac protein signal transduction ISS
 biological_processGO:0030832 regulation of actin filament length ISS
 biological_processGO:0031532 actin cytoskeleton reorganization IMP
 biological_processGO:0036336 dendritic cell migration ISS
 biological_processGO:0048149 behavioral response to ethanol IMP
 biological_processGO:0051016 barbed-end actin filament capping IEA
 biological_processGO:0051017 actin filament bundle assembly IEA
 biological_processGO:0051764 actin crosslink formation ISS
 biological_processGO:0070358 actin polymerization-dependent cell motility ISS
 biological_processGO:1990830 cellular response to leukemia inhibitory factor IEP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005903 brush border IDA
 cellular_componentGO:0005938 cell cortex ISS
 cellular_componentGO:0014069 postsynaptic density IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0017146 NMDA selective glutamate receptor complex IDA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030426 growth cone IEA
 cellular_componentGO:0031982 vesicle HDA
 cellular_componentGO:0032420 stereocilium ISS
 cellular_componentGO:0032421 stereocilium bundle IDA
 cellular_componentGO:0032426 stereocilium tip IDA
 cellular_componentGO:0032587 ruffle membrane ISS
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005070 SH3/SH2 adaptor activity TAS
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0035591 signaling adaptor activity IEA
 molecular_functionGO:0048365 Rac GTPase binding ISS


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0003577 Onset at birth 
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 HP:0012715 Profound hearing impairment "A profound (essentially complete) form of hearing impairment." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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