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ETV6 Gene

protein-coding   GIFtS: 62
GCID: GC12P011802

Ets Variant 6

(Previous name: ets variant gene 6 (TEL oncogene))
  See ETV6-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
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 congenital mesoblastic nephroma. 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 ELK4.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_009714.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the ETV6 gene promoter:
         AML1a   
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • Phosphorylation of Ser-257 by MAPK14 (p38) inhibits ETV6 transcriptional repression1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ETV6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001978.1  
    ENSEMBL proteins: 
     ENSP00000379658   ENSP00000441463   ENSP00000266427  

    ETV6 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for ETV6

     
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    antibodies-online proteins for ETV6 (5 products) 

     
    antibodies-online peptides for ETV6

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    antibodies-online antibodies for ETV6 (73 products) 

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    antibodies-online kits for ETV6 (6 products) 


    (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:
     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


    Find genes that share domains with ETV6           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000981sequence-specific DNA binding RNA polymerase II transcription factor activity IBA--
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity TAS7761424
    GO:0005515protein binding IPI12590135
    GO:0019904protein domain specific binding IPI12588862
         
    Find genes that share ontologies with ETV6           About GenesLikeMe


    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/body  hematopoietic system  homeostasis/metabolism  immune system  integument 
     mortality/aging  no phenotypic analysis  normal  tumorigenesis 

    Find genes that share phenotypes with ETV6           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ETV6
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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), hsa-mir-296-3p (MIRT038363), hsa-mir-99b-5p (MIRT044195), hsa-mir-92a-3p (MIRT048962)

    Block miRNA regulation of human, mouse, rat ETV6 using miScript Target Protectors
    Selected qRT-PCR 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
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    OriGene RNAi products in human, mouse, rat for ETV6
    Predesigned siRNA for gene silencing in human, mouse, rat ETV6

    Gene Editing
    Products:
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    Clone
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    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

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ETV6 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ETV6


    (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
    ETV6_HUMAN, P41212: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    cytoskeleton1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--

    Find genes that share ontologies with ETV6           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ETV6 About    
    See pathways by source

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


    Find genes that share SuperPaths with ETV6           About GenesLikeMe

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including ETV6: 
              Hematopoiesis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ETV6

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

    Selected Interacting proteins for ETV6 (P412121, 2, 3 ENSP000002664274) via UniProtKB, MINT, STRING, and/or I2D (see all 878)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCOR1O753762, 3, ENSP000002687124MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000268712
    SPENQ96T582, 3, ENSP000003649124MINT-7947479 I2D: score=1 STRING: ENSP00000364912
    UBE2SQ167632, 3, ENSP000002645524MINT-7947479 I2D: score=1 STRING: ENSP00000264552
    YWHAEP622582, 3, ENSP000002643354MINT-7947479 I2D: score=1 STRING: ENSP00000264335
    HDAC9Q9UKV0-31, ENSP000004086174EBI-1372759,EBI-765476 I2D: score=4 STRING: ENSP00000408617
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated ----
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006357regulation of transcription from RNA polymerase II promoter IBA--
    GO:0006366transcription from RNA polymerase II promoter IBA--
    GO:0030154cell differentiation IBA--

    Find genes that share ontologies with ETV6           About GenesLikeMe



    (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 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)



    Find genes that share compounds with ETV6           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
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    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*
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      QuantiTect SYBR Green Assays in human, mouse, rat ETV6
      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 

    Selected AceView cDNA sequences (see all 225):

    AA773253 BU630424 AA347200 AI200299 D79095 BM683130 BC043399 Z44378 
    AA928496 AI123905 AW663067 BM982346 N67347 NM_001987 BU623106 AI598130 
    AI268890 BM967174 BX097078 BU681757 AI400044 AW027091 BQ430842 AA983191 

    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™, 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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    ETV6 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 5) fully expand
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
             Umbilical cord blood-derived hematopoietic stem cells
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Umbilical cord blood-derived hematopoietic stem cells
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Thymus (Hematopoietic System)
             Thymus
    ETV6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ETV6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.504765

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

        Pathway & Disease-focused RT2 Profiler PCR Array including ETV6: 
              Hematopoiesis in human mouse rat

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

    Orthologs for ETV6 gene from Selected 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
    ets variant 6
    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 Eip74EF6
    Ecdysone-induced protein 74EF
    10(a)
    many ↔ many
    3L(17551772-17612425)
    worm
    (Caenorhabditis elegans)
    Secernentea ets-46
    Protein ETS-4, isoform b (ets-4) mRNA, complete cd...
    16(a)
    1 → many
    X(6519107-6522852) WBGene00017687


    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)
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    Paralogs for ETV6 gene
    ELK42  ELF32  ELF42  ELF12  ELF52  ETV72  ELK12  EHF2  
    ELF22  SPDEF2  ELK32  
    2 SIMAP similar genes for ETV6 using alignment to 6 protein entries:     ETV6_HUMAN (see all proteins):
    ELK1    ELF5

    Find genes that share paralogs with ETV6           About GenesLikeMe



    (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 ETV6 (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) Selected 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

    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 14 diseases for ETV6:    
    About MalaCards
    fibrosarcoma    congenital mesoblastic nephroma    leukemia, acute myeloid, somatic    chromosome 12p deletion
    chronic myelomonocytic leukemia    congenital fibrosarcoma    philadelphia-negative chronic myeloid leukemia    bruck syndrome 2
    leukemia, acute lymphoblastic 3    acute basophilic leukemia    chronic myeloid leukemia    pre-b-cell acute lymphoblastic leukemia
    mesoblastic nephroma    lymphoblastic leukemia

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

    Find genes that share disorders with ETV6           About GenesLikeMe

    Selected 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)
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    PubMed articles for ETV6 gene, integrated from 10 sources (see all 383):
    (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. (Oncogene 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. (J. Biol. Chem. 2003)
    3. Functional regulation of TEL by p38-induced phosphorylation. (PubMed id 12435397)1, 2, 9 Arai H.... Mitani K. (Biochem. Biophys. Res. Commun. 2002)
    4. Genomic organization of TEL: the human ETS-variant gene 6. (PubMed id 8743990)1, 2, 9 Baens M.... Marynen P. (Genome Res. 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. (Cancer Genet. Cytogenet. 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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Blood 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. (Cell 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. (Mol. Med. 2010)
    10. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)

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

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

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

    (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 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.)
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    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



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