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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

EPS8 Gene

protein-coding   GIFtS: 65
GCID: GC12M015673

epidermal growth factor receptor pathway substrate 8
 Explore 10 diseases affiliated with
EPS8 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for EPS8    

Aliases
for EPS8 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
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


Summaries
for EPS8 gene

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

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009714.17  
Regulatory elements:
   SABiosciences 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 plasmid: EPS8 promoter sequence
   Search SABiosciences Chromatin IP Primers for EPS8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for EPS8 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Cytoplasm, cell cortex (By similarity). Cell projection, ruffle membrane (By similarity). Cell
projection, growth cone (By similarity). Cell projection, stereocilium (By similarity). Note=Localizes to the midzone
of dividing cells (By similarity)
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q12929

    • EPS8 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    Human Recombinant Protein Products: 
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    OriGene Purified Protein: EPS8
    OriGene Protein Over-expression Lysate: 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 ProSpec Recombinant Proteins
    Uscn Proteins for EPS8

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0014069postsynaptic density IEA--
    GO:0017146N-methyl-D-aspartate selective glutamate receptor complex IEA--
    GO:0019717synaptosome ----


    EPS8 for ontologies           About GeneDecksing



    EPS8 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of EPS8
    R&D Systems Antibodies for EPS8
    OriGene Antibodies (see all 2): EPS8
    OriGene Custom Antibody Services for EPS8 
    GenScript Custom Superior Antibodies Services for EPS8
    Novus Biologicals EPS8 Antibodies
    Abcam antibodies for EPS8 
    Uscn Antibodies for EPS8
    ThermoFisher Antibodies for EPS8

    Assay Products for EPS8: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for EPS8
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for EPS8

    Protein Domains /
    Families
    for EPS8 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    EPS8 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR013625 PTB
     IPR001452 SH3_domain
     IPR011993 PH_like_dom
     IPR006020 PTyr_interaction_dom

    Graphical View of Domain Structure for InterPro Entry Q12929

    ProtoNet protein and cluster: Q12929

    2 Blocks protein families:
    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


    Function
    for EPS8 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: EPS8
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EPS8
    8/41 QIAGEN miScript miRNA 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 plasmid: EPS8 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EPS8 (see all 4)
    OriGene shRNA RFP: EPS8
    OriGene siRNA: EPS8
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EPS8

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

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EPS8 (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, 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
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    Search LifeMap BioReagents cell lines for EPS8

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPS8

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity ----
    GO:0005070SH3/SH2 adaptor activity TAS8084614
    GO:0005515protein binding IPI--
    GO:0016301kinase activity ----


    EPS8 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Eps8tm1Ppdf for EPS8
         4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Eps8):
     behavior/neurological  cellular  nervous system  normal 

    EPS8 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for EPS8 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Development FGFR signaling pathway
    		Development FGFR signaling pathway1.00
    		Development_FGFR signaling pathway0.98
    2Development HGF signaling pathway
    		Development EGFR signaling via small GTPases0.44
    		Development_EGFR signaling via small GTPases0.44
    3EGFR1 Signaling Pathway
    		EGFR1 Signaling Pathway1.00
    4Regulation of RAC1 activity
    		Regulation of RAC1 activity1.00
    5ErbB1 downstream signaling
    		ErbB1 downstream signaling1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for EPS8
        Development EGFR signaling via small GTPases
    Development FGFR signaling pathway

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

    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
    Regulation of RAC1 activity
    ErbB1 downstream signaling



    EPS8 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EPS8

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

    5/95 Interacting proteins for EPS8 (Q129291, 2, 3 ENSP000002811724) via UniProtKB, MINT, STRING, and/or I2D (see all 95)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABI1Q8IZP02, 3, ENSP000003653124MINT-15665 MINT-15663 MINT-15664 I2D: score=5 STRING: ENSP00000365312
    CASKO149362, 3, ENSP000003674084MINT-2730173 MINT-2730155 MINT-2825320 I2D: score=2 STRING: ENSP00000367408
    TEX28P1O154822, 3MINT-68345 I2D: score=5 
    CCDC85BQ158342, 3, ENSP000003116954MINT-66441 I2D: score=5 STRING: ENSP00000311695
    DNALI1O146452, 3, ENSP000002962184MINT-64089 I2D: score=5 STRING: ENSP00000296218
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    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:0031532actin cytoskeleton reorganization IEA--


    EPS8 for ontologies           About GeneDecksing



    Drugs & Compounds
    for EPS8 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    EPS8 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for EPS8
    2 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about EPS8 

    Transcripts
    for EPS8 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EPS8
    8/41 QIAGEN miScript miRNA 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 plasmid: EPS8 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EPS8 (see all 4)
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    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EPS8

    Additional cDNA 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 

    24/245 AceView cDNA sequences (see all 245):

    BG742624 AI376630 AL694027 CN481549 AA483504 AA483410 BC030010 AA151617 
    AI271684 AW662084 AA483421 AU280168 D79873 AI679737 AI373684 BP345523 
    AL699610 AI355958 AI824484 T60972 CN484478 BF725163 AA599194 AI276100 

    GeneLoc Exon Structure

    5/6 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

    Expression
    for EPS8 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    EPS8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGTCAGCTGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    EPS8 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyMetanephrosKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ progenitor SK17 (Embryonic Progenitor Cell)
    White adipocyte-like cells (Differentiation of ...)Adipose

    See EPS8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EPS8

    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

        SABiosciences Expression via Pathway-Focused PCR Array including EPS8: 
              EGF / PDGF Signaling Pathway in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for EPS8 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for EPS8 gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves EPS81 epidermal growth factor receptor pathway substrate more 78.48(n)
    80.88(a)    		   418174  XM_416405.3  XP_416405.3 
    lizard
    (Anolis carolinensis)    		 Reptilia EPS86
    		 --
    		 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
    		 EPS (human endocytosis) related family member (eps...
    		 22(a)
    		 1 → many
    		 IV(14879458-14900621)


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

    Paralogs
    for EPS8 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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



    Genomic Variants
    for EPS8 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/48 NCBI SNPs in EPS8 are shown (see all 48)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs57966421,2
    		C,--15798356(+) TCCCT-/CTTAA 
                CTTCT     		1 -- int1 trp30--------
    rs680027751,2
    		C--15798359(+) CTCTT-/AACTT 
                CTTAA     		1 -- int11Minor allele frequency- AACTT:0.00NA 2
    rs730549031,2
    		C,--15809137(+) TAATAC/TTTCCA 1 -- int10--------
    rs1998801531,2
    		--15809167(+) AAAAA-/TGTTAA 1 -- int10--------
    rs57966431,2
    		C,--15809168(+) AAAAT-/GTTAAA 1 -- int10--------
    rs777480891,2
    		C--15809168(+) AAAATG/TTTAAA 1 -- int10--------
    rs358143371,2
    		C,--15815655(+) ATGAT-/GTTAAT 1 -- int11Minor allele frequency- G:0.00NA 2
    rs754125041,2
    		C--15815655(+) ATGATG/TTTAAT 1 -- int10--------
    rs57966441,2
    		C--15815934(+) CCAAC-/AAAAAA 1 -- int1 trp31Minor allele frequency- A:0.00NA 2
    rs1916492171,2
    		--15830649(+) CACACA/CCTGTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for EPS8 (15773075 - 16023075 bp, first 250kb of EPS8)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for EPS8
         1 CNV: 86236

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for EPS8 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    EPS8 for disorders           About GeneDecksing

    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

    10 diseases for EPS8:    About MalaCards
    oral squamous cell carcinoma    squamous cell carcinoma    noonan syndrome    pituitary tumor
    cervical cancer    cervicitis    colon cancer    pancreatic cancer
    pancreatitis    carcinoma

    2 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: EPS8 (2 documents)

    Export disorders for EPS8 gene to outside databases

    Publications
    for EPS8 gene

    (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)
    About This Section

    PubMed articles for EPS8 gene, integrated from 9 sources (see all 74):
    (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. (1994)
    2. Eps8 decreases chemosensitivity and affects survival of cervical cancer patients. (PubMed id 18566210)1, 2, 9 Chen Y.J....Leu T.H. (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. (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. (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. (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. (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. (2009)
    8. Role for EPS8 in squamous carcinogenesis. (PubMed id 19008210)1, 2 Wang H....Yeudall W.A. (2009)
    9. Eps8 is increased in pancreatic cancer and required for dynamic actin-based cell protrusions and intercellular cytoskeletal organization. (PubMed id 17537571)1, 2 Welsch T....Schmidt J. (2007)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)

    External Searches for EPS8 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing EPS8 gene

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

    Other Databases showing EPS8 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing EPS8 gene

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

    Intellectual Property
    for EPS8 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



    Products
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    About This Section

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