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EPS8 Gene

protein-coding   GIFtS: 66
GCID: GC12M015673

Epidermal Growth Factor Receptor Pathway Substrate 8

Pneumococci & Pneumococcal Diseases Congress
  See related diseases
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Epidermal Growth Factor Receptor Pathway Substrate 81 2
Epidermal Growth Factor Receptor Kinase Substrate 82

External Ids:    HGNC: 34201   Entrez Gene: 20592   Ensembl: ENSG000001514917   OMIM: 6002065   UniProtKB: Q129293   

Export aliases for EPS8 gene to outside databases

Previous GC identifers: GC12M015512 GC12M015917 GC12M015664


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for EPS8 Gene:
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)

GeneCards Summary for EPS8 Gene:
EPS8 (epidermal growth factor receptor pathway substrate 8) is a protein-coding gene. Diseases associated with EPS8 include noonan syndrome, and pituitary tumors. GO annotations related to this gene include actin binding and Rac GTPase binding. An important paralog of this gene is EPS8L3.

UniProtKB/Swiss-Prot: EPS8_HUMAN, Q12929
Function: Signaling adapter that controls various cellular protrusions by regulating actin cytoskeleton dynamics
and architecture. Depending on its association with other signal transducers, can regulate different processes.
Together with SOS1 and ABI1, forms a trimeric complex that participates in transduction of signals from Ras to
Rac by activating the Rac-specific guanine nucleotide exchange factor (GEF) activity. Acts as a direct regulator
of actin dynamics by binding actin filaments and has both barbed-end actin filament capping and actin bundling
activities depending on the context. Displays barbed-end actin capping activity when associated with ABI1,
thereby regulating actin-based motility process: capping activity is auto-inhibited and inhibition is relieved
upon ABI1 interaction. Also shows actin bundling activity when associated with BAIAP2, enhancing BAIAP2-dependent
membrane extensions and promoting filopodial protrusions. Involved in the regulation of processes such as axonal
filopodia growth, stereocilia length, dendritic cell migration and cancer cell migration and invasion. Acts as a
regulator of axonal filopodia formation in neurons: in the absence of neurotrophic factors, negatively regulates
axonal filopodia formation via actin-capping activity. In contrast, it is phosphorylated in the presence of BDNF
leading to inhibition of its actin-capping activity and stimulation of filopodia formation. Component of a
complex with DFNB31 and MYO15A that localizes at stereocilia tips and is required for elongation of the
stereocilia actin core. Indirectly involved in cell cycle progression; its degradation following ubiquitination
being required during G2 phase to promote cell shape changes

Gene Wiki entry for EPS8 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NT_009714.18  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the EPS8 gene promoter:
         TBP   RREB-1   Lmo2   STAT5A   POU6F1 (c2)   E47   MZF-1   MEF-2A   AREB6   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEPS8 promoter sequence
   Search Chromatin IP Primers for EPS8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EPS8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p12.3   Ensembl cytogenetic band:  12p12.3   HGNC cytogenetic band: 12p12.3

EPS8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EPS8 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M015673:  view genomic region     (about GC identifiers)

Start:
15,773,075 bp from pter      End:
16,035,263 bp from pter
Size:
262,189 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: EPS8_HUMAN, Q12929 (See protein sequence)
Recommended Name: Epidermal growth factor receptor kinase substrate 8  
Size: 822 amino acids; 91882 Da
Subunit: Homodimer. Part of a complex consisting of ABI1, EPS8 and SOS1. Interacts with MYO15A and DFNB31.
Interacts with LANCL1 (By similarity). Interacts with EGFR; mediates EPS8 phosphorylation (By similarity).
Interacts with BAIAP2. Interacts with SHB
1 PDB 3D structure from and Proteopedia for EPS8:
2E8M (3D)    
Secondary accessions: A6NMC3 A8K6W2 A8KA66 Q8N6J0

Explore the universe of human proteins at neXtProt for EPS8: NX_Q12929

Explore proteomics data for EPS8 at MOPED

Post-translational modifications: 

  • Ubiquitinated by the SCF(FBXW5) E3 ubiquitin-protein ligase complex during G2 phase, leading to its transient
    degradation and subsequent cell shape changes required to allow mitotic progression. Reappears at the midzone of
    dividing cells (By similarity)1
  • Phosphorylation at Ser-625 and Thr-629 by MAPK following BDNF treatment promotes removal from actin and filopodia
    formation (By similarity). Phosphorylated by several receptor tyrosine kinases1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See EPS8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004438.3  
    ENSEMBL proteins: 
     ENSP00000445985   ENSP00000441867   ENSP00000281172   ENSP00000442388   ENSP00000441888  
     ENSP00000437806   ENSP00000438490   ENSP00000442883   ENSP00000445235   ENSP00000440591  
     ENSP00000444613   ENSP00000438668   ENSP00000445815  

    EPS8 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for EPS8
    OriGene Protein Over-expression Lysate for EPS8
    OriGene MassSpec for EPS8
    OriGene Custom Protein Services for EPS8
    GenScript Custom Purified and Recombinant Proteins Services for EPS8
    Novus Biologicals EPS8 Protein
    Novus Biologicals EPS8 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EPS8

    EPS8 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of EPS8
    R&D Systems Antibodies for EPS8
    Cell Signaling Technology (CST) Antibodies for EPS8 
    OriGene Antibodies for EPS8
    OriGene Custom Antibody Services for EPS8
    Novus Biologicals EPS8 Antibodies
    Abcam antibodies for EPS8
    Cloud-Clone Corp. Antibodies for EPS8
    ThermoFisher Antibodies for EPS8
    LSBio Antibodies in human, mouse, rat for EPS8

    EPS8 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for EPS8
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for EPS8
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for EPS8
    Cloud-Clone Corp. CLIAs for EPS8


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR013625 PTB
     IPR001452 SH3_domain
     IPR011993 PH_like_dom
     IPR006020 PTB/PI_dom

    Graphical View of Domain Structure for InterPro Entry Q12929

    ProtoNet protein and cluster: Q12929

    2 Blocks protein domains:
    IPB001452 SH3 domain signature
    IPB006020 Phosphotyrosine interaction domain


    UniProtKB/Swiss-Prot: EPS8_HUMAN, Q12929
    Domain: The effector region is required for activating the Rac-specific guanine nucleotide exchange factor (GEF)
    activity. It mediates both barbed-end actin capping and actin bundling activities. The capping activity is
    mediated by an amphipathic helix that binds within the hydrophobic pocket at the barbed ends of actin blocking
    further addition of actin monomers, while the bundling activity is mediated by a compact 4 helix bundle, which
    contacts 3 actin subunits along the filament (By similarity)
    Domain: The SH3 domain mediates interaction with SHB
    Similarity: Belongs to the EPS8 family
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 SH3 domain


    EPS8 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EPS8_HUMAN, Q12929
    Function: Signaling adapter that controls various cellular protrusions by regulating actin cytoskeleton dynamics
    and architecture. Depending on its association with other signal transducers, can regulate different processes.
    Together with SOS1 and ABI1, forms a trimeric complex that participates in transduction of signals from Ras to
    Rac by activating the Rac-specific guanine nucleotide exchange factor (GEF) activity. Acts as a direct regulator
    of actin dynamics by binding actin filaments and has both barbed-end actin filament capping and actin bundling
    activities depending on the context. Displays barbed-end actin capping activity when associated with ABI1,
    thereby regulating actin-based motility process: capping activity is auto-inhibited and inhibition is relieved
    upon ABI1 interaction. Also shows actin bundling activity when associated with BAIAP2, enhancing BAIAP2-dependent
    membrane extensions and promoting filopodial protrusions. Involved in the regulation of processes such as axonal
    filopodia growth, stereocilia length, dendritic cell migration and cancer cell migration and invasion. Acts as a
    regulator of axonal filopodia formation in neurons: in the absence of neurotrophic factors, negatively regulates
    axonal filopodia formation via actin-capping activity. In contrast, it is phosphorylated in the presence of BDNF
    leading to inhibition of its actin-capping activity and stimulation of filopodia formation. Component of a
    complex with DFNB31 and MYO15A that localizes at stereocilia tips and is required for elongation of the
    stereocilia actin core. Indirectly involved in cell cycle progression; its degradation following ubiquitination
    being required during G2 phase to promote cell shape changes

         Genatlas biochemistry entry for EPS8:
    epidermal growth factor receptor (EGFR) substrate,complexing with SSH3BP1 and putatively mediating the transfer of
    signals from Ras to Racs

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding ISS--
    GO:0005070SH3/SH2 adaptor activity TAS8084614
    GO:0005515protein binding IPI15289329
    GO:0016301kinase activity ----
    GO:0048365Rac GTPase binding ISS--
         
    EPS8 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for EPS8:
     Decreased p24 protein expressi  Decreased viability  Synthetic lethal with Ras  Upregulation of Wnt/beta-caten 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Eps8):
     behavior/neurological  cellular  hearing/vestibular/ear  nervous system  normal 

    EPS8 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Eps8tm1Ppdf for EPS8

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EPS8
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for EPS8

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EPS8
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EPS8

    miRNA
    Products:
        
    miRTarBase miRNAs that target EPS8:
    hsa-mir-192-5p (MIRT026253), hsa-mir-215-5p (MIRT024889)

    Block miRNA regulation of human, mouse, rat EPS8 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EPS8 (see all 41):
    hsa-miR-3678-3p hsa-miR-345 hsa-miR-3938 hsa-miR-429 hsa-miR-300 hsa-miR-513a-5p hsa-miR-25 hsa-miR-218
    SwitchGear 3'UTR luciferase reporter plasmidEPS8 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for EPS8
    Predesigned siRNA for gene silencing in human, mouse, rat EPS8

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for EPS8

    Clone
    Products:
         
    OriGene clones in human, mouse for EPS8 (see all 7)
    OriGene ORF clones in mouse, rat for EPS8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: EPS8 (NM_004447)
    Sino Biological Human cDNA Clone for EPS8
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPS8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPS8

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for EPS8
    Browse ESI BIO Cell Lines and PureStem Progenitors for EPS8 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPS8


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EPS8_HUMAN, Q12929: Cytoplasm, cell cortex (By similarity). Cell projection, ruffle membrane (By similarity).
    Cell projection, growth cone (By similarity). Cell projection, stereocilium (By similarity). Cell junction,
    synapse, synaptosome (By similarity). Note=Localizes to the midzone of dividing cells (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol3
    nucleus3
    cytoskeleton2
    endosome1
    golgi apparatus1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005938cell cortex ISS--
    GO:0014069postsynaptic density IEA--
    GO:0017146N-methyl-D-aspartate selective glutamate receptor complex IEA--
    GO:0030054cell junction IEA--
    GO:0030426growth cone IEA--

    EPS8 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for EPS8 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Development FGFR signaling pathway
    Development FGFR signaling pathway0.45
    2Development HGF signaling pathway
    Development EGFR signaling via small GTPases0.44
    3Development EGFR signaling pathway
    EGF Pathway0.39
    4CDC42 signaling events
    CDC42 signaling events0.34
    5Tyrosine Kinases / Adaptors
    Tyrosine Kinases / Adaptors

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for EPS8
        EGF Pathway

    1 Cell Signaling Technology (CST) Pathway for EPS8
        Tyrosine Kinases / Adaptors

    2 GeneGo (Thomson Reuters) Pathways for EPS8
        Development EGFR signaling via small GTPases
    Development FGFR signaling pathway

    4 BioSystems Pathways for EPS8
        EGFR1 Signaling Pathway
    CDC42 signaling events
    ErbB1 downstream signaling
    Regulation of RAC1 activity




    EPS8 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including EPS8: 
              EGF / PDGF Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for EPS8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for EPS8 (Q129291, 2, 3 ENSP000002811724) via UniProtKB, MINT, STRING, and/or I2D (see all 108)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CASKO149361, 2, 3, ENSP000003674084EBI-375576,EBI-1215506 MINT-2730173 MINT-2730155 MINT-2825320 I2D: score=2 STRING: ENSP00000367408
    ABI1Q8IZP02, 3, ENSP000003653124MINT-15665 MINT-15663 MINT-15664 I2D: score=5 STRING: ENSP00000365312
    TEX28P2O154822, 3, ENSP000003589574MINT-68345 I2D: score=5 STRING: ENSP00000358957
    TEX28P1O154822, 3MINT-68345 I2D: score=5 
    CCDC85BQ158342, 3, ENSP000003116954MINT-66441 I2D: score=5 STRING: ENSP00000311695
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction TAS8084614
    GO:0007173epidermal growth factor receptor signaling pathway TAS8084614
    GO:0008283cell proliferation TAS8084614
    GO:0008344adult locomotory behavior IEA--
    GO:0008360regulation of cell shape ISS--

    EPS8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for EPS8

    2 Novoseek inferred chemical compound relationships for EPS8 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 55.6 20 7791787 (4), 9665816 (4), 7608194 (2), 8084614 (2) (see all 10)
    phosphotyrosine 48.5 2 10395945 (1), 7791787 (1)



    EPS8 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for EPS8 gene: 
    NM_004447.5  

    Unigene Cluster for EPS8:

    Epidermal growth factor receptor pathway substrate 8
    Hs.591160  [show with all ESTs]
    Unigene Representative Sequence: NM_004447
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000543468(uc010shv.2) ENST00000543523(uc009zif.3) ENST00000281172(uc001rdb.3 uc009zig.3)
    ENST00000543612 ENST00000540613 ENST00000542903 ENST00000545610 ENST00000541465
    ENST00000535734 ENST00000546261 ENST00000508018 ENST00000536956 ENST00000546311
    ENST00000535752 ENST00000543363 ENST00000536793 ENST00000544064

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat EPS8 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EPS8 (see all 41):
    hsa-miR-3678-3p hsa-miR-345 hsa-miR-3938 hsa-miR-429 hsa-miR-300 hsa-miR-513a-5p hsa-miR-25 hsa-miR-218
    SwitchGear 3'UTR luciferase reporter plasmidEPS8 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for EPS8
    Predesigned siRNA for gene silencing in human, mouse, rat EPS8
    Clone
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    OriGene clones in human, mouse for EPS8 (see all 7)
    OriGene ORF clones in mouse, rat for EPS8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: EPS8 (NM_004447)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPS8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPS8
    Primer
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    OriGene qPCR primer pairs and template standards for EPS8
    OriGene qSTAR qPCR primer pairs in human, mouse for EPS8
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EPS8
      QuantiTect SYBR Green Assays in human, mouse, rat EPS8
      QuantiFast Probe-based Assays in human, mouse, rat EPS8

    Additional mRNA sequence: 

    AK291777.1 AK292931.1 AK301834.1 AK304860.1 AK316134.1 AK316239.1 BC005836.2 BC030010.2 
    U12535.1 

    17 DOTS entries:

    DT.444945  DT.100796027  DT.92430786  DT.95375639  DT.97844605  DT.102605  DT.121165650  DT.121165627 
    DT.421232  DT.75140223  DT.100036112  DT.100735475  DT.121165614  DT.121165665  DT.95322761  DT.95375644 
    DT.97809065 

    Selected AceView cDNA sequences (see all 245):

    BG742624 AU280168 AW662084 AI271684 BP345523 AA483421 AI679737 D79873 
    AI276100 AA599194 CN484478 T60972 AI824484 AI355958 BF725163 AL699610 
    AI969610 AA195096 AA993187 CN483450 AI867449 CB118358 AW029016 BC005836 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for EPS8 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b ^
    SP1:                                                                    -                             -     -                                         -         
    SP2:                                                              -     -                             -     -                                         -         
    SP3:                          -                                                                                                                                 
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 19 ^ 20a · 20b ^ 21
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for EPS8

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EPS8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGTCAGCTGG
    EPS8 Expression
    About this image


    EPS8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Adipose (Muscoskeletal System)
             White adipocyte-like cells
     
     Kidney (Urinary System)
             Metanephros
     
     Head Mesenchyme (Muscoskeletal System)
             Frontonasal Process
     
     Testis (Reproductive System)
             Pre-Sertoli Cells Testis Cord
     
     Colon (Gastrointestinal Tract)
    EPS8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EPS8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591160

    UniProtKB/Swiss-Prot: EPS8_HUMAN, Q12929
    Tissue specificity: Expressed in all tissues analyzed, including heart, brain, placenta, lung, liver, skeletal
    muscle, kidney and pancreas. Expressed in all epithelial and fibroblastic lines examined and in some, but not
    all, hematopoietic cells

        Pathway & Disease-focused RT2 Profiler PCR Array including EPS8: 
              EGF / PDGF Signaling Pathway in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for EPS8 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Eps81 , 5 epidermal growth factor receptor pathway substrate more1, 5 84.49(n)1
    89.16(a)1
      6 (66.78 cM)5
    138601  NM_001271587.11  NP_001258516.11 
     1374772455 
    chicken
    (Gallus gallus)
    Aves EPS81 epidermal growth factor receptor pathway substrate more 77.99(n)
    79.9(a)
      418174  XM_004937962.1  XP_004938019.1 
    lizard
    (Anolis carolinensis)
    Reptilia EPS86
    epidermal growth factor receptor pathway substrate...
    77(a)
    1 ↔ 1
    GL343336.1(988374-1046798)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.113122 Xenopus laevis transcribed sequence with weak similarity more 79.01(n)    BU899801.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc560412 similar to epidermal growth factor receptor pathway more 72.84(n)   393212  BC047814.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta aru3 EGF receptor signaling pathway 46(a)   21D4   --
    worm
    (Caenorhabditis elegans)
    Secernentea eps-86
    Protein EPS-8, isoform g (eps-8) mRNA, complete cd...
    23(a)
    1 → many
    IV(14879490-14900653) WBGene00001330


    ENSEMBL Gene Tree for EPS8 (if available)
    TreeFam Gene Tree for EPS8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EPS8 gene
    EPS8L32  EPS8L12  EPS8L22  
    4 SIMAP similar genes for EPS8 using alignment to 9 protein entries:     EPS8_HUMAN (see all proteins):
    NCK2    GRAP2    EPS8L2    EPS8L1

    EPS8 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EPS8 (see all 3021)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1484767661,2
    --15542116(+) ATTCAA/TATAGA 1 -- ds50010--------
    rs1128625521,2
    C,F--15542118(+) TCATAC/TAGAGT 1 -- ds50011Minor allele frequency- T:0.00CSA 1
    rs348001121,2
    C,F--15542130(+) GTTGTA/GAATAT 1 -- ds50014Minor allele frequency- G:0.03NA 96
    rs1509742041,2
    --15542177(+) TAAGCA/GCAGTG 1 -- ds50010--------
    rs1905494281,2
    --15542272(+) AACCGA/GAAAAA 1 -- ds50010--------
    rs1810157621,2
    C--15542370(+) AACTCA/GAATCC 1 -- ds50010--------
    rs96518701,2
    C,F,H--15542382(+) CAGCCG/AATCTA 1 -- ds500110Minor allele frequency- A:0.02NS EA NA WA 1210
    rs1850469821,2
    --15542443(+) AAATAC/TTGTTT 1 -- ut310--------
    rs1885837551,2
    --15542709(+) ATTACC/TAGAAA 1 -- ut310--------
    rs1408402241,2
    C--15542750(+) CCCACC/TTCCTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for EPS8 (15773075 - 16023075 bp, first 250kb of EPS8)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for EPS8:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2135886CNV Deletion18987734
    esv2663867CNV Deletion23128226
    dgv1379n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EPS8
    DNA2.0 Custom Variant and Variant Library Synthesis for EPS8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600206    OMIM disorders: --

    UniProtKB/Swiss-Prot: EPS8_HUMAN, Q12929
  • Note=Defects in EPS8 are associated with some cancers, such as pancreatic, oral squamous cell carcinomas
    or pituitary cancers. Contributes to cell transformation in response to growth factor treatment and is
    overexpressed in a number of tumors, indicating that EPS8 levels must be tightly regulated

  • 19 diseases for EPS8:    
    About MalaCards
    noonan syndrome    pituitary tumors    narcolepsy    brain cancer
    oral squamous cell carcinoma    malignant glioma    cervical cancer    cystic fibrosis
    cervicitis    adenoma    squamous cell carcinoma    pancreatic cancer
    pancreatitis    ovarian cancer    hiv-1    multiple myeloma
    myeloma    neuronitis    endotheliitis


    EPS8 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    2 Novoseek inferred disease relationships for EPS8 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 6 7791787 (4), 17496330 (1), 20184880 (1)
    cancer 0 10 20184880 (5), 19799886 (3), 15289329 (1)

    Genetic Association Database (GAD): EPS8
    Human Genome Epidemiology (HuGE) Navigator: EPS8 (2 documents)

    Export disorders for EPS8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for EPS8 gene, integrated from 10 sources (see all 91):
    (articles sorted by number of sources associating them with EPS8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Evolutionary conservation of the EPS8 gene and its mapping to human chromosome 12q23-q24. (PubMed id 8084614)1, 2, 3, 9 Wong W.T.... di Fiore P.P. (Oncogene 1994)
    2. Eps8 decreases chemosensitivity and affects survival of cervical cancer patients. (PubMed id 18566210)1, 2, 9 Chen Y.J.... Leu T.H. (Mol. Cancer Ther. 2008)
    3. Epidermal growth factor receptor pathway substrate 8 is overexpressed in human pituitary tumors: role in proliferation and survival. (PubMed id 19116338)1, 2, 9 Xu M.... Wierman M.E. (Endocrinology 2009)
    4. Regulation of cell shape by Cdc42 is mediated by the synergic actin- bundling activity of the Eps8-IRSp53 complex. (PubMed id 17115031)1, 2, 9 Disanza A.... Scita G. (Nat. Cell Biol. 2006)
    5. IRSp53/Eps8 complex is important for positive regulation of Rac and cancer cell motility/invasiveness. (PubMed id 15289329)1, 2, 9 Funato Y.... Miki H. (Cancer Res. 2004)
    6. Molecular interactions of the Src homology 2 domain protein Shb with phosphotyrosine residues, tyrosine kinase receptors and Src homology 3 domain proteins. (PubMed id 7537362)1, 2, 9 Karlsson T.... Welsh M. (Oncogene 1995)
    7. Upregulation of Eps8 in oral squamous cell carcinoma promotes cell migration and invasion through integrin-dependent Rac1 activation. (PubMed id 19448673)1, 2, 9 Yap L.F.... Paterson I.C. (Oncogene 2009)
    8. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)
    9. Role for EPS8 in squamous carcinogenesis. (PubMed id 19008210)1, 2 Wang H.... Yeudall W.A. (Carcinogenesis 2009)
    10. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PubMed id 18464913)1, 4 Melzer D....Ferrucci L. (PLoS Genet. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2059 HGNC: 3420 AceView: EPS8 Ensembl:ENSG00000151491 euGenes: HUgn2059
    ECgene: EPS8 H-InvDB: EPS8

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for EPS8 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for EPS8 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EPS8 gene:
    Search GeneIP for patents involving EPS8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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