Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

ETV6 Gene

protein-coding   GIFtS: 63
GCID: GC12P011802

Ets Variant 6

(Previous name: ets variant gene 6 (TEL oncogene))
  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)
About This Section

Aliases
Ets Variant 61 2     TEL/ABL2
TEL2 3 5     TEL1 Oncogene2
Ets Variant Gene 6 (TEL Oncogene)1 2     Transcription Factor ETV62
ETS Translocation Variant 62 3     TEL13
ETS-Related Protein Tel12 3     Tel3
TEL Oncogene1     

External Ids:    HGNC: 34951   Entrez Gene: 21202   Ensembl: ENSG000001390837   OMIM: 6006185   UniProtKB: P412123   

Export aliases for ETV6 gene to outside databases

Previous GC identifers: GC12P011530 GC12P011947 GC12P011703 GC12P011694 GC12P011670


(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 ETV6 Gene:
This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a
N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins,
and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis
and maintenance of the developing vascular network. This gene is known to be involved in a large number of
chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. (provided by RefSeq, Sep 2008)

GeneCards Summary for ETV6 Gene: 
ETV6 (ets variant 6) is a protein-coding gene. Diseases associated with ETV6 include fibrosarcoma, and chromosome 12p deletion. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and protein domain specific binding. An important paralog of this gene is ELF3.

UniProtKB/Swiss-Prot: ETV6_HUMAN, P41212
Function: Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'

Gene Wiki entry for ETV6 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_009714.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ETV6 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidETV6 promoter sequence
   Search SABiosciences Chromatin IP Primers for ETV6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ETV6


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

Entrez Gene cytogenetic band: 12p13   Ensembl cytogenetic band:  12p13.2   HGNC cytogenetic band: 12p13

ETV6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ETV6 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P011802:  view genomic region     (about GC identifiers)

Start:
11,802,788 bp from pter      End:
12,048,336 bp from pter
Size:
245,549 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ETV6_HUMAN, P41212 (See protein sequence)
Recommended Name: Transcription factor ETV6  
Size: 452 amino acids; 53000 Da
Subunit: Can form homodimers or heterodimers with TEL2 or FLI1. Interacts with L3MBTL1 and HDAC9
Subcellular location: Nucleus
Sequence caution: Sequence=ABI30005.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
6 PDB 3D structures from and Proteopedia for ETV6:
1JI7 (3D)        1LKY (3D)        2DAO (3D)        2QAR (3D)        2QB0 (3D)        2QB1 (3D)    
Secondary accessions: A3QVP6 A8K076 Q9UMF6 Q9UMF7 Q9UMG0

Explore the universe of human proteins at neXtProt for ETV6: NX_P41212

Explore proteomics data for ETV6 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation of Ser-257 by MAPK14 (p38) inhibits ETV6 transcriptional repression
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P41212

  • ETV6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ETV6 Protein Expression
    REFSEQ proteins: NP_001978.1  
    ENSEMBL proteins: 
     ENSP00000379658   ENSP00000441463   ENSP00000266427  

    Human Recombinant Protein Products for ETV6: 
    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 ETV6
    OriGene Protein Over-expression Lysate for ETV6
    OriGene MassSpec for ETV6 
    OriGene Custom Protein Services for ETV6
    GenScript Custom Purified and Recombinant Proteins Services for ETV6
    Novus Biologicals ETV6 Protein
    Novus Biologicals ETV6 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ETV6 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    ETV6 for ontologies           About GeneDecksing



    ETV6 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for ETV6
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for ETV6
    GenScript Custom Superior Antibodies Services for ETV6
    Novus Biologicals ETV6 Antibodies
    Abcam antibodies for ETV6
    Cloud-Clone Corp. Antibodies for ETV6 
    ThermoFisher Antibodies for ETV6
    LSBio Antibodies in human, mouse, rat for ETV6 

    Assay Products for ETV6: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ETV6
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ETV6
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ETV6 
    Cloud-Clone Corp. CLIAs for ETV6


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR000418 Ets_dom
     IPR011991 WHTH_DNA-bd_dom
     IPR003118 Pointed_dom
     IPR013761 SAM/pointed

    Graphical View of Domain Structure for InterPro Entry P41212

    ProtoNet protein and cluster: P41212

    1 Blocks protein domain: IPB003118 Sterile alpha motif (SAM)/Pointed domain

    UniProtKB/Swiss-Prot: ETV6_HUMAN, P41212
    Similarity: Belongs to the ETS family
    Similarity: Contains 1 ETS DNA-binding domain
    Similarity: Contains 1 PNT (pointed) domain


    ETV6 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ETV6_HUMAN, P41212
    Function: Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'

         Genatlas biochemistry entry for ETV6:
    ETS variant 6,transcriptional repressor,required for hematopoiesis in bone marrow,involved in chronic
    myelomonocytic leukemia (see CMML) with translocations t(5;12)(q33;p13), t(10;12)(q24;p13);in CML with
    translocation t(9;12)(q34;p13);in ALL and in B cell precursor ALL with favorable outcome and translocations
    t(5;12)(q31-q33;p12),t(9;12) (p24;p13),t(12.21)(p13;q22) (see AML1),t(6;12)(q23;p13),(see STL),and in
    myelodysplasia and myeloproliferative disorders with translocation t(3;12)(q26;p13),(1;12)(p13 or q31;p13)
    (14;12) (q11;p13) t(12;22) (p13;q11),t(12;15) (p13;q25),t(12;13)(p13-q12),in acute myeloid leukemia with
    translocation (4;12) (q11-q12;p13) (see CDX2) in congenital fibrosarcoma (CFS),in congenital mesoblastic nephroma
    and in biphenotypic adult leukemia (BIPL),see MDS1,EVI1,also involved in malignancies with hemizygous deletions

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI12590135
    GO:0019904protein domain specific binding IPI12588862
    GO:0043565sequence-specific DNA binding IEA--
         
    ETV6 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ETV6:
     Increased HPV18 LCR reporter a 

         14 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Etv6):
     cardiovascular system  cellular  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     growth/size  hematopoietic system  homeostasis/metabolism  immune system  integument 
     mortality/aging  no phenotypic analysis  normal  tumorigenesis 

    ETV6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ETV6: Etv6tm1Sho Etv6tm2.1Sho

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ETV6 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ETV6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ETV6 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ETV6 

    miRNA
    Products:
        
    miRTarBase miRNAs that target ETV6:
    hsa-mir-129-5p (MIRT004050)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ETV6
    8/92 QIAGEN miScript miRNA Assays for microRNAs that regulate ETV6 (see all 92):
    hsa-miR-579 hsa-miR-193a-3p hsa-miR-640 hsa-miR-632 hsa-miR-374a hsa-miR-3916 hsa-miR-3613-3p hsa-miR-29a*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ETV6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ETV6

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ETV6
    Sirion Biotech Customized adenovirus for overexpression of ETV6

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for ETV6 (see all 8)
    OriGene ORF clones in mouse, rat for ETV6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ETV6 (NM_001987)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ETV6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ETV6
    Sirion Biotech Customized lentivirus for stable overexpression of ETV6 
                         Customized lentivirus expression plasmids for stable overexpression of ETV6 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ETV6
    Search LifeMap BioReagents cell lines for ETV6
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ETV6


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ETV6 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer
    2Diurnally regulated genes with circadian orthologs
    Diurnally regulated genes with circadian orthologs
    3Dorso-ventral axis formation
    Dorso-ventral axis formation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ETV6
        Diurnally regulated genes with circadian orthologs


    2         Kegg Pathways  (Kegg details for ETV6):
        Dorso-ventral axis formation
    Transcriptional misregulation in cancer


    ETV6 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ETV6

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

    5/817 Interacting proteins for ETV6 (P412121, 2, 3 ENSP000002664274) via UniProtKB, MINT, STRING, and/or I2D (see all 817)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCOR1O753762, 3, ENSP000002687124MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000268712
    SPENQ96T582, 3MINT-7947479 I2D: score=1 
    UBE2SQ167632, 3MINT-7947479 I2D: score=1 
    YWHAEP622582, 3MINT-7947479 I2D: score=1 
    HDAC9Q9UKV0-31, ENSP000004086174EBI-1372759,EBI-765476 I2D: score=4 STRING: ENSP00000408617
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0030154cell differentiation IEA--

    ETV6 for ontologies           About GeneDecksing



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

    ETV6 for compounds           About GeneDecksing

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

    Browse Tocris compounds for ETV6

    6 Novoseek inferred chemical compound relationships for ETV6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    imatinib 50.5 1 12829585 (1)
    tyrosine 47.8 36 15611931 (3), 8754809 (2), 10590083 (2), 11159536 (2) (see all 28)
    agar 0 2 12626745 (1)
    prednisolone 0 2 16424874 (1), 15837750 (1)
    retinoic acid 0 3 17242174 (1), 17369854 (1)
    vegf 0 2 10652577 (1), 9891517 (1)

    Search CenterWatch for drugs/clinical trials and news about ETV6

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ETV6 gene: 
    NM_001987.4  

    Unigene Cluster for ETV6:

    Ets variant 6
    Hs.504765  [show with all ESTs]
    Unigene Representative Sequence: NM_001987
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000396373(uc001qzz.3 uc001raa.1) ENST00000541426 ENST00000544715
    ENST00000545027 ENST00000266427
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ETV6
    8/92 QIAGEN miScript miRNA Assays for microRNAs that regulate ETV6 (see all 92):
    hsa-miR-579 hsa-miR-193a-3p hsa-miR-640 hsa-miR-632 hsa-miR-374a hsa-miR-3916 hsa-miR-3613-3p hsa-miR-29a*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ETV6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ETV6
    Clone
    Products:
         
    OriGene clones in human, mouse for ETV6 (see all 8)
    OriGene ORF clones in mouse, rat for ETV6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ETV6 (NM_001987)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ETV6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ETV6
    Sirion Biotech Customized lentivirus for stable overexpression of ETV6 
                         Customized lentivirus expression plasmids for stable overexpression of ETV6 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for ETV6
    OriGene qSTAR qPCR primer pairs in human, mouse for ETV6
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ETV6
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ETV6
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ETV6

    Additional mRNA sequence: 

    AK289441.1 BC020284.1 BC043399.1 BC061911.1 DQ451147.1 EU364772.1 FR719953.1 U11732.1 
    Z35761.1 

    13 DOTS entries:

    DT.215338  DT.114998  DT.411164  DT.70104091  DT.121174815  DT.65287167  DT.40131416  DT.75142931 
    DT.99991732  DT.121175075  DT.95257518  DT.92063108  DT.97837384 

    24/225 AceView cDNA sequences (see all 225):

    Z44378 Z40311 BQ430842 BM683130 AA773253 BX097078 BU681757 BM982346 
    AI268890 AW953495 N67347 BU623106 AA347200 BC043399 AI200299 AW663067 
    CA309586 BM967174 AI598130 NM_001987 AI123905 D79095 BU507161 AA928496 

    GeneLoc Exon Structure


    (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

    ETV6 expression in normal human tissues (normalized intensities)      ETV6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCAAGTGAAC
    ETV6 Expression
    About this image


    ETV6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/19 selected tissues (see all 19) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
             brain/midbrain   
     
     Tooth (Integumentary System)    fully expand to see all 4 entries
             visceral organ/oral region/upper jaw   
     
     Nose (Sensory Organs)    fully expand to see all 3 entries
             sensory organ/nose/nasal cavity   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon

    See ETV6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ETV6

    SOURCE GeneReport for Unigene cluster: Hs.504765

    UniProtKB/Swiss-Prot: ETV6_HUMAN, P41212
    Tissue specificity: Ubiquitous

        SABiosciences Expression via Pathway-Focused PCR Array including ETV6: 
              Hematopoiesis in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ETV6
    OriGene qSTAR qPCR primer pairs in human, mouse for ETV6
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ETV6
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ETV6
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ETV6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ETV6

    (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 ETV6 gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Etv61 , 5 ets variant gene 6 (TEL oncogene)1, 5 90.29(n)1
    91.2(a)1
      6 (64.58 cM)5
    140111  NM_007961.31  NP_031987.31 
     1340357005 
    chicken
    (Gallus gallus)
    Aves ETV61 ets variant gene 6 (TEL oncogene) 82.26(n)
    87.58(a)
      395750  NM_001199273.1  NP_001186202.1 
    lizard
    (Anolis carolinensis)
    Reptilia ETV66
    Uncharacterized protein
    88(a)
    1 ↔ 1
    5(83153337-83235465)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.69362 Transcribed sequence with weak similarity to protein more 77.01(n)    142005230 
    zebrafish
    (Danio rerio)
    Actinopterygii etv62 ets variant gene 6 (TEL oncogene) 80.22(n)   114444  AF339838.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta aop6
    anterior open
    15(a)
    1 → many
    2L(2156484-2178749)
    worm
    (Caenorhabditis elegans)
    Secernentea ets-86
    ets-76
    (see all 3)
    Protein ETS-7
    (see all 3)
    26(a)
    14(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    IV(1159637-1161545)
    V(7557757-7558783)


    ENSEMBL Gene Tree for ETV6 (if available)
    TreeFam Gene Tree for ETV6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ETV6 gene
    ELF32  ELF42  ELF12  ELF52  ETV72  EHF2  ELF22  SPDEF2  
    2 SIMAP similar genes for ETV6 using alignment to 6 protein entries:     ETV6_HUMAN (see all proteins):
    ELK1    ELF5

    ETV6 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) 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

    10/5405 SNPs in ETV6 are shown (see all 5405)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs680106131,2
    C--11581692(+) TAGGTTG/-TGTGT 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs2006649271,2
    --11585464(+) GTTTA-/TTTT  
            
    TTTTC
    1 -- int10--------
    rs113988141,2
    C--11585632(+) GCTAA-/TTTTTT 1 -- int1 trp30--------
    rs666100111,2
    C,F--11586336(+) TTTTG-/G/TGTTTT 1 -- int12NA CSA 4
    rs2004083221,2
    --11606198(+) CCTGT-/TAGAGTC 1 -- int10--------
    rs357223011,2
    C--11606199(+) CTGTT-/AGAGTCT 1 -- int11Minor allele frequency- AG:0.00NA 2
    rs786172071,2
    C--11643749(+) TTTTCC/TACTCA 1 -- int11Minor allele frequency- T:0.50NA 2
    rs349285041,2
    C--11646247(+) GCGTT-/AC/CA 
            
    AGCAC
    1 -- int10--------
    rs676636881,2
    C--11646248(+) CGTTA-/CAGCACA 1 -- int10--------
    rs351904471,2
    C--11647046(+) GACACAT/-GTGAG 1 -- int11Minor allele frequency- -:0.50NA 2

    HapMap Linkage Disequilibrium report for ETV6 (11802788 - 12048336 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 variations for ETV6 (see all 13):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2554143CNV Deletion19546169
    esv2745562CNV Deletion23290073
    esv2354690CNV Deletion18987734
    esv2745564CNV Deletion23290073
    nsv609CNV Insertion18451855
    nsv611CNV Insertion18451855
    nsv512255CNV Loss21212237
    esv29239CNV Loss19812545
    dgv186n27CNV Loss19166990
    nsv516796CNV Loss19592680

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ETV6
    DNA2.0 Custom Variant and Variant Library Synthesis for ETV6

    (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.)
    About This Section
    OMIM gene information: 600618   
    OMIM disorders: 601626  
    UniProtKB/Swiss-Prot: ETV6_HUMAN, P41212
  • Note=A chromosomal aberration involving ETV6 is found in a form of chronic myelomonocytic leukemia
    (CMML). Translocation t(5;12)(q33;p13) with PDGFRB. It is characterized by abnormal clonal myeloid proliferation
    and by progression to acute myelogenous leukemia (AML)
  • Note=Chromosomal aberrations involving ETV6 are found in a form of acute myeloid leukemia (AML).
    Translocation t(12;22)(p13;q11) with MN1; translocation t(4;12)(q12;p13) with CHIC2
  • Note=Chromosomal aberrations involving ETV6 are found in childhood acute lymphoblastic leukemia (ALL).
    Translocations t(12;21)(p12;q22) and t(12;21)(p13;q22) with RUNX1/AML1
  • Note=A chromosomal aberration involving ETV6 is found in a form of pre-B acute myeloid leukemia.
    Translocation t(9;12)(p24;p13) with JAK2
  • Note=A chromosomal aberration involving ETV6 is found in myelodysplastic syndrome (MDS) with basophilia.
    Translocation t(5;12)(q31;p13) with ACSL6
  • Note=A chromosomal aberration involving ETV6 is found in acute eosinophilic leukemia (AEL). Translocation
    t(5;12)(q31;p13) with ACSL6
  • Note=A chromosomal aberration involving ETV6 is found in myelodysplastic syndrome (MDS). Translocation
    t(1;12)(p36.1;p13) with MDS2
  • Myeloproliferative disorder chronic with eosinophilia (MPE) [MIM:131440]: A hematologic disorder
    characterized by malignant eosinophils proliferation. Note=The gene represented in this entry is involved in
    disease pathogenesis. A chromosomal aberration involving ETV6 is found in many instances of myeloproliferative
    disorder chronic with eosinophilia. Translocation t(5;12) with PDGFRB on chromosome 5 creating an ETV6-PDGFRB
    fusion protein
  • Leukemia, acute myelogenous (AML) [MIM:601626]: A subtype of acute leukemia, a cancer of the white blood
    cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors
    at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other
    tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils,
    eosinophils and monocytes. Note=The gene represented in this entry is involved in disease pathogenesis
  • Note=A chromosomal aberration involving ETV6 is found in acute lymphoblastic leukemia. Translocation
    t(9;12)(p13;p13) with PAX5

  • 20/46 diseases for ETV6 (see all 46):    About MalaCards
    fibrosarcoma    chromosome 12p deletion    congenital mesoblastic nephroma    leukemia, acute myeloid, somatic
    congenital fibrosarcoma    acute basophilic leukemia    acute lymphoblastic leukemia, childhood    mesoblastic nephroma
    mn1    acute myeloid leukemia with t translocation    chronic myelomonocytic leukemia    prolymphocytic leukemia
    t-cell prolymphocytic leukemia    chronic myeloproliferative disease    lymphoblastic leukemia    acute lymphoblastic leukemia
    childhood leukemia    myelodysplastic syndromes    lymphoblastic lymphoma    eosinophilia

    3 diseases from the University of Copenhagen DISEASES database for ETV6:
    Leukemia     Congenital fibrosarcoma     Congenital mesoblastic nephroma

    ETV6 for disorders           About GeneDecksing

    10/37 Novoseek inferred disease relationships for ETV6 gene (see all 37)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lymphoblastic leukemia acute childhood 87.6 24 9264370 (2), 9373267 (2), 18445843 (1), 18281529 (1) (see all 18)
    lymphoblastic leukemia acute 83.7 31 12764377 (2), 16490598 (2), 7795247 (1), 9204978 (1) (see all 26)
    leukemogenesis 83.5 20 16038737 (2), 15806161 (1), 18728978 (1), 11157492 (1) (see all 16)
    leukemia 76.4 69 17069581 (3), 16643428 (3), 9060558 (3), 8754809 (2) (see all 50)
    hematologic malignancies 73.1 25 9454771 (3), 9523197 (2), 7795247 (1), 11347199 (1) (see all 15)
    myelodysplastic syndromes 67.2 17 18476590 (2), 9171997 (2), 8695816 (2), 16757412 (2) (see all 11)
    leukemia myelomonocytic chronic 67 3 9031109 (1), 7761424 (1), 8168137 (1)
    chromosomal aberrations 64.2 6 8695816 (1), 9365838 (1), 19480935 (1), 10557049 (1)
    nephroma mesoblastic 62.2 1 11743047 (1)
    acute leukemia 61 12 11343784 (3), 8808688 (1), 12823350 (1), 7780150 (1) (see all 8)

    Genetic Association Database (GAD): ETV6
    Human Genome Epidemiology (HuGE) Navigator: ETV6 (8 documents)

    Export disorders for ETV6 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)
    About This Section

    PubMed articles for ETV6 gene, integrated from 9 sources (see all 376):
    (articles sorted by number of sources associating them with ETV6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Somatic heterozygous mutations in ETV6 (TEL) and frequent absence of ETV6 protein in acute myeloid leukemia. (PubMed id 15806161)1, 2, 9 Barjesteh van Waalwijk van Doorn-Khosrovani S.... Delwel R. (2005)
    2. The human L(3)MBT Polycomb group protein is a transcriptional repressor and interacts physically and functionally with TEL (ETV6). (PubMed id 12588862)1, 2, 9 Boccuni P.... Nimer S.D. (2003)
    3. Functional regulation of TEL by p38-induced phosphorylation. (PubMed id 12435397)1, 2, 9 Arai H.... Mitani K. (2002)
    4. Genomic organization of TEL: the human ETS-variant gene 6. (PubMed id 8743990)1, 2, 9 Baens M.... Marynen P. (1996)
    5. ETV6-RUNX1 fusion gene and additional genetic changes in infant leukemia: a genome-wide analysis. (PubMed id 19665068)1, 4, 9 Emerenciano M....Pombo-de-Oliveira M.S. (2009)
    6. Fusion of the TEL gene on 12p13 to the AML1 gene on 21q22 in acute lymphoblastic leukemia. (PubMed id 7761424)1, 2, 9 Golub T.R.... Gilliland D.G. (1995)
    7. The t(12;21) of acute lymphoblastic leukemia results in a tel-AML1 gene fusion. (PubMed id 7780150)1, 2, 9 Romana S.P.... Bernard O.A. (1995)
    8. Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation. (PubMed id 8168137)1, 2, 9 Golub T.R.... Gilliland D.G. (1994)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    10. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2120 HGNC: 3495 AceView: ETV6 Ensembl:ENSG00000139083 euGenes: HUgn2120
    ECgene: ETV6 Kegg: 2120 H-InvDB: ETV6

    (According to HUGE)
    About This Section
      --

    (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 ETV6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ETV6 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ETV6 gene:
    Search GeneIP for patents involving ETV6

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Antibodies for ETV6 (ETV6)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for ETV6  
     OriGene qPCR primer pairs and template standards for ETV6   OriGene Protein Over-expression Lysate for ETV6  
     OriGene MassSpec something-or-other for ETV6   OriGene clones in human, mouse for ETV6  
     OriGene qSTAR qPCR primer pairs in human, mouse for ETV6   OriGene Purified Protein for ETV6  
     OriGene ORF clones in mouse, rat for ETV6   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ETV6   OriGene Custom Protein Services for ETV6  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ETV6
     QIAGEN SeqTarget long-range PCR primers for resequencing ETV6
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ETV6
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ETV6
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ETV6
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ETV6
     GenScript Custom Purified and Recombinant Proteins Services for ETV6 GenScript cDNA clones with any tag delivered in your preferred vector for ETV6
     GenScript Custom Assay Services for ETV6 GenScript Custom Superior Antibodies Services for ETV6
     GenScript Custom overexpressing Cell Line Services for ETV6 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in ETV6 promoter
     Search Chromatin IP Primers for ETV6
     RT2 qPCR Primer Assay in human, mouse, rat ETV6
     GNC Network for ETV6
     SABiosciences PCR Arrays including human, mouse, rat ETV6
     Search Tocris compounds for ETV6
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     ETV6 antibodies
     ETV6 proteins
     ETV6 lysates
     Antibodies for ETV6
     See all of Abcam's Antibodies, Kits and Proteins for ETV6
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for ETV6
     Antibodies for ETV6
     ELISAs for ETV6
     CLIAs for ETV6
     Search LifeMap BioReagents cell lines for ETV6
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ETV6
     Browse SwitchGear 3'UTR luciferase reporter plasmids for ETV6
     SwitchGear Promoter luciferase reporter plasmids for ETV6
     ThermoFisher Antibodies for ETV6
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ETV6
     inGenious Targeting Laboratory - Custom generated mouse model solutions for ETV6
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ETV6
    Customized:
     lentivirus for stable overexpression of ETV6
     lentivirus expression plasmids for stable overexpression of ETV6
     adenovirus for overexpression of ETV6
     LSBio Antibodies in human, mouse, rat for ETV6
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ETV6 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4