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

ETV6 Gene

protein-coding   GIFtS: 60
GCID: GC12P011703

ets variant 6

(Previous name: ets variant gene 6 (TEL oncogene) )
 Explore 50 diseases affiliated with
ETV6 via our new
 Human Malady Compendium 
Biological research products
for ETV6
    

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

Aliases
Ets Variant 61 2     TEL/ABL2
TEL1 2 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

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 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:
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)

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

Gene Wiki entry for ETV6


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009714.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the 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 GC12P011703:  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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: 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

Post-translational modifications:

  • Phosphorylation of Ser-257 by MAPK14 (p38) inhibits ETV6 transcriptional repression1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P41212

  • ETV6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    Human Recombinant Protein Products: 
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    Novus Biologicals ETV6 Protein
    Novus Biologicals ETV6 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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



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    Uscn ELISAs and CLIAs for ETV6


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

    ETV6 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR000418 Ets_dom
     IPR011991 WHTH_trsnscrt_rep_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 family: 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


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

    Function Summary:

         UniProtKB/Swiss-Prot: 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

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    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
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ETV6 (see all 7)
    OriGene shRNA RFP: ETV6
    OriGene siRNA: ETV6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ETV6

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    GenScript: all cDNA clones in your preferred vector: ETV6 (NM_001987)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ETV6 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ETV6

    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


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

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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Diurnally regulated genes with circadian orthologs
    Diurnally regulated genes with circadian orthologs1.00
    2Dorso-ventral axis formation
    Dorso-ventral axis formation1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for ETV6 
        Diurnally regulated genes with circadian orthologs


    1         Kegg Pathway  (Kegg details for ETV6):
        Dorso-ventral axis formation


    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)

    5/780 Interacting proteins for ETV6 (P412121, 2, 3 ENSP000002664274) via UniProtKB, MINT, STRING, and/or I2D (see all 780)
    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, 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 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 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for 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

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    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*
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    Clone
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    Additional cDNA 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):

    CA309586 BU507161 BM683130 AA773253 AW953495 NM_001987 D79095 AI598130 
    BU630424 AA347200 AI200299 Z44378 AI268890 CB243807 BM982346 AA928496 
    AI400044 Z40311 BU623106 AA983191 N67347 AI123905 AW027091 BQ003277 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCAAGTGAAC

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

    About this image
    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

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    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 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    87(a)
    1 ↔ 1
    5(83153337-83183481)
    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
    12(a)
    1 → many
    2L(2156484-2178749)


    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  ELF22  SPDEF2  EHF2  
    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, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4673 NCBI SNPs in ETV6 are shown (see all 4673    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs725614671,2
    F--11565541(+) CAGACT/ACCGTC 1 -- us2k15Minor allele frequency- A:0.01MN 404
    rs755038861,2
    C,F,--11565858(+) GGAAAA/CATCTG 1 -- us2k11Minor allele frequency- C:0.05WA 118
    rs680224111,2
    C,F,--11566022(+) AAYCCC/TCAATA 1 -- us2k16Minor allele frequency- T:0.01MN WA 402
    rs725523571,2
    F,--11566055(+) AAGTAT/AAATGA 1 -- us2k16Minor allele frequency- A:0.02MN WA 518
    rs725523361,2
    F--11566095(+) NNTAAGA/-GAGTG 1 -- us2k15Minor allele frequency- -:0.01MN 400
    rs25411361,2
    C,F,A,--11566236(-) GATTGG/AATGGC 1 -- us2k16Minor allele frequency- A:0.04MN WA 518
    rs79540761,2
    C,F,--11566887(+) AAAACC/GTGTTT 1 -- us2k15Minor allele frequency- G:0.01MN 400
    rs25411341,2
    C,F,A,H,--11568268(-) ACCAAT/CTGTGA 1 -- int15Minor allele frequency- C:0.04NS EA WA 528
    rs27246471,2
    F,--11569541(+) CTGCGG/ATATAG 1 -- int11Minor allele frequency- A:0.09WA 118
    rs556377561,2
    C,--11569754(+) CCGTTC/TTGATG 1 -- int11Minor allele frequency- T:0.50WA 2

    HapMap Linkage Disequilibrium report for ETV6 (11802788 - 12048336 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 14 variations for ETV6
         7 CNVs: 48963 101435 48962 48961 48960 48959 53162
         7 Indels: 44976 75954 86219 86217 75953 86218 66142

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

    ETV6 for disorders           About GeneDecksing

    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
  • Defects in ETV6 are a cause of myeloproliferative disorder chronic with eosinophilia (MPE) [MIM:131440]. A
  • hematologic disorder characterized by malignant eosinophils proliferation. Note=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
  • Defects in ETV6 are a cause of acute myelogenous leukemia (AML) [MIM:601626]. AML is a malignant disease in
  • which hematopoietic precursors are arrested in an early stage of development
  • Note=A chromosomal aberration involving ETV6 is found in acute lymphoblastic leukemia. Translocation
  • t(9;12)(p13;p13) with PAX5

    20/50 diseases for ETV6 (see all 50):    About MalaCards
    congenital fibrosarcoma    fibrosarcoma    leukemia    pre-b-cell acute lymphoblastic leukemia
    congenital mesoblastic nephroma    hematopoiesis    leukemia, acute myeloid, somatic    mesoblastic nephroma
    acute lymphoblastic leukemia    lymphoblastic leukemia    testicular germ cell tumor    prolymphocytic leukemia
    acute lymphoblastic leukemia, childhood    germ cell tumor    polycythemia vera    myeloid leukemia
    megakaryoblastic leukemia    myelomonocytic leukemia    t-cell prolymphocytic leukemia    myeloproliferative disorder

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

    10/37 Novoseek 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)

    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 363):
    (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. 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)
    6. 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)
    7. 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)
    8. Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia. (PubMed id 17344859)1, 2 Mullighan C.G.... Downing J.R. (2007)
    9. 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. (2004)
    10. The histone deacetylase 9 gene encodes multiple protein isoforms. (PubMed id 12590135)1, 2 Petrie K....Zelent A. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
    Disorders
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    (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



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