ENSG00000177106


Homo sapiens

Features
Gene ID: ENSG00000177106
  
Biological name :EPS8L2
  
Synonyms : EPS8L2 / EPS8 like 2 / Q9H6S3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: p15.5
Gene start: 694438
Gene end: 727727
  
Corresponding Affymetrix probe sets: 218180_s_at (Human Genome U133 Plus 2.0 Array)   222546_s_at (Human Genome U133 Plus 2.0 Array)   229020_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000433223
Ensembl peptide - ENSP00000435128
Ensembl peptide - ENSP00000480704
Ensembl peptide - ENSP00000480201
Ensembl peptide - ENSP00000437145
Ensembl peptide - ENSP00000437085
Ensembl peptide - ENSP00000436230
Ensembl peptide - ENSP00000436035
Ensembl peptide - ENSP00000435585
Ensembl peptide - ENSP00000320828
Ensembl peptide - ENSP00000432765
Ensembl peptide - ENSP00000432923
Ensembl peptide - ENSP00000433057
Ensembl peptide - ENSP00000433173
NCBI entrez gene - 64787     See in Manteia.
OMIM - 614988
RefSeq - NM_022772
RefSeq - XM_017018130
RefSeq - XM_017018131
RefSeq - XM_017018132
RefSeq Peptide - NP_073609
swissprot - E9PLH1
swissprot - A0A087WX39
swissprot - E9PNY4
swissprot - H0YF37
swissprot - Q9H6S3
swissprot - H0YD62
swissprot - E9PNT0
swissprot - E9PN68
swissprot - E9PM34
swissprot - E9PLN2
Ensembl - ENSG00000177106
  
Related genetic diseases (OMIM): 617637 - Deafness autosomal recessive 106, 617637
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
 eps8l2ENSDARG00000058108Danio rerio
 si:dkey-287h13.1ENSDARG00000069011Danio rerio
 EPS8L2ENSGALG00000043025Gallus gallus
 Eps8l2ENSMUSG00000025504Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
EPS8 / Q12929 / epidermal growth factor receptor pathway substrate 8ENSG0000015149145
EPS8L1 / Q8TE68 / EPS8 like 1ENSG0000013103739
EPS8L3 / Q8TE67 / EPS8 like 3ENSG0000019875825


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 IDA
 biological_processGO:0007605 sensory perception of sound ISS
 biological_processGO:0035023 regulation of Rho protein signal transduction IDA
 biological_processGO:0065009 regulation of molecular function IEA
 biological_processGO:1900029 positive regulation of ruffle assembly IGI
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0031982 vesicle HDA
 cellular_componentGO:0032420 stereocilium IEA
 cellular_componentGO:0032421 stereocilium bundle ISS
 cellular_componentGO:0032426 stereocilium tip ISS
 cellular_componentGO:0032587 ruffle membrane IDA
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003779 actin binding IDA
 molecular_functionGO:0005089 Rho guanyl-nucleotide exchange factor activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030676 Rac guanyl-nucleotide exchange factor activity IDA
 molecular_functionGO:0045296 cadherin binding IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


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






 

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