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FLASH GENE
Symbol ETV6 contributors: mct - updated : 24-12-2017
HGNC name ets variant 6
HGNC id 3495
Corresponding disease
THC5 thrombocytopenia 5
Location 12p13.2      Physical location : 11.802.787 - 12.048.323
Synonym name
  • ets variant gene 6 (TEL oncogene)
  • TEL oncogene
  • ETS translocation variant 6
  • ETS-related protein Tel1
    • Synonym symbol(s) TEL, TEL/ABL, TEL1
    DNA
    TYPE functioning gene
    STRUCTURE 245.54 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map pter - D12S841 - (D12S1409 ,D12S1123 ) - D12S852 - D12S840 - D12S1808 - PRB3 - D12S845 - D12S1697 - D12S1858 - D12S1095 - [ETV6 - D12S89 - D12S1114 - D12S98 - D12S850 - LRP6 - D12S391 - AP3S1P - D12S922 - D12S358 - CREBL2 - CDKN1B ] - D12S927 - D12S929 - D12S1393E - D12S1804 - D12S112E - D12S178 - D12S320 - D12S864 - cen
    Authors Baens (99)
    Text see CDKN1B , [deleted in leukemias]
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 5989 52.9 452 - Akagi (2009)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue  highly
    Lymphoid/Immunethymus   highly
    Reproductivefemale systemovary  highly
     female systembreastmammary gland highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N-terminal pointed (PNT) domain that is involved in the protein-protein interactions with itself and other proteins
  • a central region involved in the recruitment of a repression complex including NCOR2 and SIN3
  • a self-associating PNT domain
  • an acidic domain
  • C terminal ETS DNA binding domain, PEA3 subgroups
    • HOMOLOGY
    Homologene
    FAMILY
  • ETS family
    • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • transcription regulator, required for hematopoiesis in bone marrow and for vessel formation (early endothelial cell tube formation)
  • essential for hematopoietic stem cell function (Putnik 2008)
  • play pivotal roles in cell fate determination although the precise mechanisms by which repression of gene expression by these factors is achieved are not clearly defined (Roukens 2008)
  • IRF8, ETV6 and HDAC3 cooperated to increase sensitivity to FAS-induced apoptosis
  • frequently involved in chromosomal translocations linked with human cancers, and displays a DNA-binding mode distinct from other ETS proteins due to the presence of a self-associating PNT domain
    • CELLULAR PROCESS nucleotide, transcription
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding to sequences containing the consensus pentanucleotide 5'-CGGA(AT)-3'
    RNA
    small molecule
    protein
  • interaction with KAT5 through a 63 AAs region located in the central domain of ETV6 between the pointed and the ETS domain (functions as a corepressor of ETV6) (Putnik 2008)
  • ETV6 orchestrates endothelial sprouting by binding to the generic co-repressor, CTBP1
  • interacts with IRF proteins, including IRF8, and represses transcription of various target genes during normal myelopoiesis
  • ETV6-PDGFRB antagonizes the effects of ETV6 and IRF8 on PTPN13 transcription
  • loss of ETV6 leads to significant overexpression of CLIC5, which in turn leads to decreased lysosome-mediated apoptosis
    • cell & other
    REGULATION
    Other sumoylated to UBL1 (SUMO-1), after interaction with the ubiquitin conjugating enzyme UBE2I (UBC9)
    regulation by PIAS3 (mediates ETV6 sumoylation, but it also augments ETV6 repressive function in a sumoylation-independent fashion) (Roukens 2008)
    ASSOCIATED DISORDERS
    corresponding disease(s) THC5
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion translocation   protein chimeric
    chronic myelomonocytic leukemia (CMML) and malignant eosinophil proliferation with translocations t(5;12)(q33;p13), t(10;12)(q24;p13); in CML with translocation t(9;12)(q34;p13)
    tumoral   translocation    
    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)
    tumoral fusion translocation    
    fused with FGFR3 in t(4;12) (p16;p13) in peripheral T-cell lymphoma
    tumoral fusion translocation    
    fused with TTLM in t(12;13)(p13;q14) in lymphoblastic leukemia, with FRK in t(6;12) (q21;p13) in myelogenous leukemia
    tumoral   translocation    
    myelodysplasia and myeloproliferative disorders with translocation t(3;12)(q26;p13), t(1;12)(p36;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)
    tumoral   translocation    
    in acute myeloid leukemia (AML-M2) with translocation t(1;12) (q21;p13), t(7;12)(q36;p13) in myeloid malignancy with poor prognosis, in congenital fibrosarcoma (CFS), in congenital mesoblastic nephroma and in biphenotypic adult leukemia (BIPL)
    tumoral fusion      
    ETV6/PTPRR in acute myelogenous leukemia with inv(12)(p13q13)
    tumoral fusion translocation    
    ETV6/FLT3 (EF) fusion proteins in a patient with myeloproliferative disorder (MPD) and a t(12;13)(p13;q12) translocation (Vu 2009)
    tumoral fusion      
    ETV6/GOT1 fusion in a case of t(10;12)(q24;p13)-positive myelodysplastic syndrome (Struski 2008)
    tumoral somatic mutation      
    in early immature human T cell leukemias
    tumoral fusion      
    fusion of ETV6 and BAZ2A, in pre-B acute lymphoblastic leukaemia with a cryptic chromosome 12 rearrangement
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    miscelleaneousvascular 
    potential targets for the development of therapeutic strategies to inhibit pathological angiogenesis
    ANIMAL & CELL MODELS