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    EPS8 epidermal growth factor receptor pathway substrate 8 [ Homo sapiens (human) ]

    Gene ID: 2059, updated on 4-Jul-2021

    Summary

    Official Symbol
    EPS8provided by HGNC
    Official Full Name
    epidermal growth factor receptor pathway substrate 8provided by HGNC
    Primary source
    HGNC:HGNC:3420
    See related
    Ensembl:ENSG00000151491 MIM:600206
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DFNB102
    Summary
    This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the transduction of signals from Ras to Rac and growth factor-mediated actin remodeling. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in gall bladder (RPKM 34.8), fat (RPKM 34.0) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See EPS8 in Genome Data Viewer
    Location:
    12p12.3
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (15620134..15789388, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (15773068..15942322, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene protein tyrosine phosphatase receptor type O Neighboring gene ribosomal protein S2 pseudogene 42 Neighboring gene uncharacterized LOC105369672 Neighboring gene HNF4 motif-containing MPRA enhancer 23 Neighboring gene RNA, U6 small nuclear 251, pseudogene Neighboring gene uncharacterized LOC102724146 Neighboring gene mitochondrial ribosomal protein S7 pseudogene 2 Neighboring gene serine/threonine kinase receptor associated protein

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study identifies protein quantitative trait loci (pQTLs).
    GeneReviews: Not available
    Deafness, autosomal recessive 102
    MedGen: C3892050 OMIM: 615974 GeneReviews: Not available
    Compare labs

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of epidermal growth factor receptor pathway substrate 8 (EPS8) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables actin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling adaptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables small GTPase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in Rac protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in Rho protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in actin crosslink formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in actin cytoskeleton reorganization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in actin filament bundle assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in actin polymerization-dependent cell motility ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in adult locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in barbed-end actin filament capping ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in behavioral response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to leukemia inhibitory factor IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dendritic cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in exit from mitosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of ruffle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of Rho protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of actin filament length ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of cell shape ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of postsynaptic membrane neurotransmitter receptor levels IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of NMDA selective glutamate receptor complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in brush border IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell cortex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in growth cone IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in ruffle membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in ruffle membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in stereocilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in stereocilium tip IEA
    Inferred from Electronic Annotation
    more info
     
    located_in vesicle HDA PubMed 

    General protein information

    Preferred Names
    epidermal growth factor receptor kinase substrate 8

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_041808.1 RefSeqGene

      Range
      5001..174437
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004447.6NP_004438.3  epidermal growth factor receptor kinase substrate 8

      See identical proteins and their annotated locations for NP_004438.3

      Status: REVIEWED

      Source sequence(s)
      AC073651, AC092753
      Consensus CDS
      CCDS31753.1
      UniProtKB/Swiss-Prot
      Q12929
      UniProtKB/TrEMBL
      B4E3T6
      Related
      ENSP00000281172.5, ENST00000281172.10
      Conserved Domains (3) summary
      cd09540
      Location:720784
      SAM_EPS8-like; SAM domain of EPS8-like subfamily
      cd11764
      Location:535588
      SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
      cd01210
      Location:64191
      PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

      Range
      15620134..15789388 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520605.3XP_011518907.1  epidermal growth factor receptor kinase substrate 8 isoform X1

      Conserved Domains (3) summary
      cd09540
      Location:740804
      SAM_EPS8-like; SAM domain of EPS8-like subfamily
      cd11764
      Location:555608
      SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
      cd01210
      Location:84211
      PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
    2. XM_024448882.1XP_024304650.1  epidermal growth factor receptor kinase substrate 8 isoform X3

      Related
      ENSP00000496406.1, ENST00000647087.1
      Conserved Domains (3) summary
      cd09540
      Location:720784
      SAM_EPS8-like; SAM domain of EPS8-like subfamily
      cd11764
      Location:535588
      SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
      cd01210
      Location:64191
      PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
    3. XM_024448878.1XP_024304646.1  epidermal growth factor receptor kinase substrate 8 isoform X2

      Conserved Domains (3) summary
      cd09540
      Location:731795
      SAM_EPS8-like; SAM domain of EPS8-like subfamily
      cd11764
      Location:546599
      SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
      cd01210
      Location:75202
      PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
    4. XM_024448880.1XP_024304648.1  epidermal growth factor receptor kinase substrate 8 isoform X3

      Related
      ENSP00000442388.1, ENST00000543612.5
      Conserved Domains (3) summary
      cd09540
      Location:720784
      SAM_EPS8-like; SAM domain of EPS8-like subfamily
      cd11764
      Location:535588
      SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
      cd01210
      Location:64191
      PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
    5. XM_024448879.1XP_024304647.1  epidermal growth factor receptor kinase substrate 8 isoform X3

      Conserved Domains (3) summary
      cd09540
      Location:720784
      SAM_EPS8-like; SAM domain of EPS8-like subfamily
      cd11764
      Location:535588
      SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
      cd01210
      Location:64191
      PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
    6. XM_024448881.1XP_024304649.1  epidermal growth factor receptor kinase substrate 8 isoform X3

      Conserved Domains (3) summary
      cd09540
      Location:720784
      SAM_EPS8-like; SAM domain of EPS8-like subfamily
      cd11764
      Location:535588
      SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
      cd01210
      Location:64191
      PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
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