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EPS8L2 Gene

protein-coding   GIFtS: 51
GCID: GC11P000696

EPS8-Like 2

  See related diseases
at  

(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
EPS8-Like 21 2
EPS8R22 3 5
Epidermal Growth Factor Receptor Pathway Substrate 8-Related Protein 22 3
EPS8-Like Protein 22 3
EPS8-Related Protein 22 3
Epidermal Growth Factor Receptor Kinase Substrate 8-Like Protein 22

External Ids:    HGNC: 212961   Entrez Gene: 647872   Ensembl: ENSG000001771067   OMIM: 6149885   UniProtKB: Q9H6S33   

Export aliases for EPS8L2 gene to outside databases

Previous GC identifers: GC11M000470 GC11P000697 GC11P000522


(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 EPS8L2 Gene:
This gene encodes a member of the EPS8 gene family. The encoded protein, like other members of the family, is
thought to link growth factor stimulation to actin organization, generating functional redundancy in the pathways
that regulate actin cytoskeletal remodeling. (provided by RefSeq, Dec 2008)

GeneCards Summary for EPS8L2 Gene:
EPS8L2 (EPS8-like 2) is a protein-coding gene. Diseases associated with EPS8L2 include colon adenocarcinoma, and inflammatory bowel disease. An important paralog of this gene is EPS8L3.

UniProtKB/Swiss-Prot: ES8L2_HUMAN, Q9H6S3
Function: Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the
actin cytoskeleton

Gene Wiki entry for EPS8L2 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_000011.10  NT_009237.19  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the EPS8L2 gene promoter:
         E2F-3a   E2F-4   E2F-5   GCNF   E2F-2   c-Ets-1   SRY   E2F-1   E2F   GCNF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEPS8L2 promoter sequence
   Search Chromatin IP Primers for EPS8L2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EPS8L2


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

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.5   HGNC cytogenetic band: 11p15.5

EPS8L2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EPS8L2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P000696:  view genomic region     (about GC identifiers)

Start:
694,438 bp from pter      End:
727,727 bp from pter
Size:
33,290 bases      Orientation:
plus 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: ES8L2_HUMAN, Q9H6S3 (See protein sequence)
Recommended Name: Epidermal growth factor receptor kinase substrate 8-like protein 2  
Size: 715 amino acids; 80621 Da
Subunit: Interacts with ABI1. Part of a complex that contains SOS1, ABI1 and EPS8L2. Associates with F-actin
Sequence caution: Sequence=AAL55838.1; Type=Frameshift; Positions=593; Sequence=BAB15180.1; Type=Erroneous
initiation;
2 PDB 3D structures from and Proteopedia for EPS8L2:
1WWU (3D)        1WXB (3D)    
Secondary accessions: B3KSX1 Q53GM8 Q8WYW7 Q96K06 Q9H6K9
Alternative splicing: 2 isoforms:  Q9H6S3-1   Q9H6S3-2   

Explore the universe of human proteins at neXtProt for EPS8L2: NX_Q9H6S3

Explore proteomics data for EPS8L2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See EPS8L2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_073609.2  
    ENSEMBL proteins: 
     ENSP00000435128   ENSP00000437085   ENSP00000320828   ENSP00000435585   ENSP00000432923  
     ENSP00000433173   ENSP00000433223   ENSP00000432765   ENSP00000436035   ENSP00000436230  
     ENSP00000437145   ENSP00000433057  

    EPS8L2 Human Recombinant Protein Products:

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    Novus Biologicals EPS8L2 Proteins
    Novus Biologicals EPS8L2 Lysates
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    Cloud-Clone Corp. Proteins for EPS8L2

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    (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 Q9H6S3

    ProtoNet protein and cluster: Q9H6S3

    1 Blocks protein domain: IPB001452 SH3 domain signature

    UniProtKB/Swiss-Prot: ES8L2_HUMAN, Q9H6S3
    Similarity: Belongs to the EPS8 family
    Similarity: Contains 1 PID domain
    Similarity: Contains 1 SH3 domain


    EPS8L2 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: ES8L2_HUMAN, Q9H6S3
    Function: Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the
    actin cytoskeleton

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IDA14565974
    GO:0005089contributes to Rho guanyl-nucleotide exchange factor activity IDA14565974
    GO:0005515protein binding ----
    GO:0030676contributes to Rac guanyl-nucleotide exchange factor activity IDA14565974
         
    EPS8L2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for EPS8L2:
     Cell cycle / mitosis defect  Large nuclei 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Eps8l2):
     hearing/vestibular/ear  nervous system 

    EPS8L2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Eps8l2tm1Wma for EPS8L2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EPS8L2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EPS8L2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EPS8L2

    miRNA
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    miRTarBase miRNAs that target EPS8L2:
    hsa-mir-34a-5p (MIRT025340)

    Block miRNA regulation of human, mouse, rat EPS8L2 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate EPS8L2:
    hsa-miR-647 hsa-miR-200c hsa-miR-369-3p hsa-miR-429 hsa-miR-200b
    SwitchGear 3'UTR luciferase reporter plasmidEPS8L2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat EPS8L2

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    Sino Biological Human cDNA Clone for EPS8L2
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPS8L2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPS8L2


    (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
    ES8L2_HUMAN, Q9H6S3: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol3
    nucleus2
    cytoskeleton1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane IDA--
    GO:0032587ruffle membrane IDA14565974
    GO:0043234protein complex IDA14565974
    GO:0070062extracellular vesicular exosome IDA19056867

    EPS8L2 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EPS8L2
    Interactions:

        Search GeneGlobe Interaction Network for EPS8L2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for EPS8L2 (Q9H6S32, 3 ENSP000003208284) via UniProtKB, MINT, STRING, and/or I2D (see all 799)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SF3B2Q134352, 3MINT-7945693 MINT-7947479 I2D: score=4 
    RPL4P365782, 3MINT-7945693 I2D: score=4 
    TAF12Q165142, 3MINT-7945693 I2D: score=4 
    CD3EP077662, 3, ENSP000003545664MINT-7214076 I2D: score=1 STRING: ENSP00000354566
    ACTL6AO960192, ENSP000003975524MINT-7945693 MINT-7947479 STRING: ENSP00000397552
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007266Rho protein signal transduction IDA14565974
    GO:0032314regulation of Rac GTPase activity IDA14565974
    GO:0032319regulation of Rho GTPase activity IDA14565974
    GO:0035023regulation of Rho protein signal transduction IDA14565974
    GO:1900029positive regulation of ruffle assembly IGI14565974

    EPS8L2 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 EPS8L2 (ES8L2)



    (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 EPS8L2 gene: 
    NM_022772.3  

    Unigene Cluster for EPS8L2:

    EPS8-like 2
    Hs.55016  [show with all ESTs]
    Unigene Representative Sequence: AK122903
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 29):
    ENST00000524763 ENST00000527199 ENST00000318562(uc001lqt.3 uc010qwk.2 uc001lqw.3)
    ENST00000533256(uc001lqu.3) ENST00000534755 ENST00000529346(uc010qwj.1)
    ENST00000526909(uc001lqv.3) ENST00000529680 ENST00000530093 ENST00000533500
    ENST00000527807 ENST00000531348 ENST00000526380 ENST00000530636 ENST00000526198
    ENST00000530118 ENST00000524474 ENST00000531471
    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate EPS8L2:
    hsa-miR-647 hsa-miR-200c hsa-miR-369-3p hsa-miR-429 hsa-miR-200b
    SwitchGear 3'UTR luciferase reporter plasmidEPS8L2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat EPS8L2
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    GenScript: all cDNA clones in your preferred vector: EPS8L2 (NM_022772)
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    OriGene qPCR primer pairs and template standards for EPS8L2
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EPS8L2
      QuantiTect SYBR Green Assays in human, mouse, rat EPS8L2
      QuantiFast Probe-based Assays in human, mouse, rat EPS8L2

    Additional mRNA sequence: 

    AK025824.1 AK094539.1 AK122903.1 AK122984.1 AK222903.1 AK225311.1 AK294041.1 AY074929.1 
    BC002474.2 BC080636.1 BC093878.1 BC101481.1 BC143242.1 

    24 DOTS entries:

    DT.210040  DT.101984513  DT.87016679  DT.120701939  DT.91735514  DT.95304239  DT.95304242  DT.100053365 
    DT.95304244  DT.97845859  DT.92414423  DT.91975724  DT.120701874  DT.120701908  DT.91860863  DT.95255652 
    DT.120701971  DT.91735516  DT.91740781  DT.91747332  DT.95304264  DT.100736286  DT.120701935  DT.121233700 

    Selected AceView cDNA sequences (see all 272):

    CK429580 BU682046 BI835775 BC080636 BE898902 AI983603 AI950520 BM761937 
    AI151216 CA943748 AK094539 CA447414 BQ929951 CK825256 CA865436 BG326545 
    AI540612 AI912061 BU151374 BU076051 BQ887819 BU500883 AI991003 AI369272 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for EPS8L2 (see all 17)    About this scheme

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

    ExUns: 16a · 16b ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22a · 22b ^ 23a · 23b · 23c ^ 24a · 24b ^ 25a · 25b
    SP1:                          -                       -           -                                       
    SP2:                          -                       -           -                                       
    SP3:                          -                       -           -                                       
    SP4:                          -                       -           -                                       
    SP5:                          -                       -           -                                       


    ECgene alternative splicing isoforms for EPS8L2

    (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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    EPS8L2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    EPS8L2 Expression
    About this image


    EPS8L2 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
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Adult Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Foregut
     
     Endothelium (Cardiovascular System)
             Adult Endothelial Cells Blood Brain Barrier
     
     Lung (Respiratory System)
     
     Colon (Gastrointestinal Tract)
    EPS8L2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EPS8L2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.55016

    UniProtKB/Swiss-Prot: ES8L2_HUMAN, Q9H6S3
    Tissue specificity: Detected in fibroblasts and placenta

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPS8L2

    (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 EPS8L2 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Eps8l21 , 5 EPS8-like 21, 5 83.71(n)1
    86.48(a)1
      7 (86.66 cM)5
    988451  NM_133191.21  NP_573454.21 
     1413388805 
    chicken
    (Gallus gallus)
    Aves LOC1008595201 epidermal growth factor receptor kinase substrate 8-like more 70.26(n)
    71.37(a)
      100859520  XM_003643169.2  XP_003643217.2 
    lizard
    (Anolis carolinensis)
    Reptilia EPS8L26
    EPS8-like 2
    65(a)
    1 ↔ 1
    1(73968305-74050737)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia eps8l21 EPS8-like 2 63.65(n)
    63.11(a)
      100489749  XM_002937505.2  XP_002937551.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7982521 epidermal growth factor receptor kinase substrate 8-like more 64.82(n)
    62.37(a)
      798252  XM_002666772.3  XP_002666818.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG89076
    aru6
    arouser
    24(a)
    22(a)
    many ↔ many
    many ↔ many
    3R(12833996-12838255)
    2L(861849-868352)
    worm
    (Caenorhabditis elegans)
    Secernentea eps-86
    Protein EPS-8, isoform g (eps-8) mRNA, complete cd...
    22(a)
    1 → many
    IV(14879490-14900653) WBGene00001330


    ENSEMBL Gene Tree for EPS8L2 (if available)
    TreeFam Gene Tree for EPS8L2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EPS8L2 gene
    EPS8L32  EPS8L12  EPS82  
    3 SIMAP similar genes for EPS8L2 using alignment to 10 protein entries:     ES8L2_HUMAN (see all proteins):
    NCK2    EPS8    EPS8L1

    EPS8L2 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 EPS8L2 (see all 629)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs112462751,2
    C,A--705535(+) CCTGAC/TACCCC 1 -- us2k1 tfbs37Minor allele frequency- T:0.19MN EA NA WA 1614
    rs128048781,2
    C,F--705630(+) CATGGT/CTGGGT 1 -- us2k1 tfbs315Minor allele frequency- C:0.43MN EA NA WA CSA 1628
    rs1167869041,2
    F--705660(+) CTCACC/AGAAGC 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs112462761,2
    C,F--706284(+) CCGGAG/TGCAGG 1 -- ut51 ese37Minor allele frequency- T:0.19MN EA NA WA CSA 1498
    rs112462771,2
    C,F--706310(+) CGGGGG/AAGCGC 1 -- int15Minor allele frequency- A:0.24MN EA NA WA 1376
    rs799512371,2
    C--706366(+) TTCTGG/ATTCAG 1 -- int13Minor allele frequency- A:0.12NA EA 242
    rs112462781,2
    C--706510(+) GCCCCC/GGTCGG 1 -- int14Minor allele frequency- G:0.25NA WA EA 360
    rs751266651,2
    F--706686(+) CTCCCG/AAGGGC 1 -- int11Minor allele frequency- A:0.04EA 120
    rs1835166951,2
    --706801(+) AGCTGA/GGTCAG 1 -- int10--------
    rs1489534331,2
    --706856(+) GGCTGA/GGACAG 1 -- int10--------

    HapMap Linkage Disequilibrium report for EPS8L2 (694438 - 727727 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for EPS8L2 (see all 19):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv182e199CNV Deletion23128226
    esv1298114CNV Insertion17803354
    nsv896545CNV Loss21882294
    nsv469923CNV Loss18288195
    nsv896579CNV Loss21882294
    nsv896578CNV Loss21882294
    dgv922n71CNV Loss21882294
    dgv943n71CNV Loss21882294
    dgv944n71CNV Loss21882294
    dgv921n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EPS8L2
    DNA2.0 Custom Variant and Variant Library Synthesis for EPS8L2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614988    OMIM disorders: --

    5 diseases for EPS8L2:    
    About MalaCards
    colon adenocarcinoma    inflammatory bowel disease    adenocarcinoma    cerebritis
    endotheliitis


    EPS8L2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): EPS8L2

    Export disorders for EPS8L2 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 EPS8L2 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with EPS8L2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. In silico analysis of the EPS8 gene family: genomic organization, expression profile, and protein structure. (PubMed id 12620401)1, 2, 3 Tocchetti A.... Betsholtz C. (Genomics 2003)
    2. The eps8 family of proteins links growth factor stimulation to actin reorganization generating functional redundancy in the Ras/Rac pathway. (PubMed id 14565974)1, 2 Offenhaeuser N.... Scita G. (Mol. Biol. Cell 2004)
    3. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    8. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)
    9. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    10. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 64787 HGNC: 21296 AceView: EPS8L2 Ensembl:ENSG00000177106 euGenes: HUgn64787
    ECgene: EPS8L2 H-InvDB: EPS8L2

    (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 EPS8L2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EPS8L2 gene:
    Search GeneIP for patents involving EPS8L2

    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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