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Symbol SET contributors: mct - updated : 22-02-2012
HGNC name SET translocation (myeloid leukemia-associated)
HGNC id 10760
Corresponding disease
MRD58 mental retardation-58
SET acute undifferentiated leukemia (AUL)
Location 9q34.11      Physical location : 131.445.933 - 131.458.674
Synonym name
  • set oncogene,fused with CAN gene in acute undifferentiated leukemia
  • TATA-box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD
  • Synonym symbol(s) PHAPII, TAF-Ibeta, EVI42, I2PP2A, IGAAD, 2PP2A
    TYPE functioning gene
    STRUCTURE 12.74 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    Physical map
    PTGES2 9q34.13 prostaglandin E synthase 2 LOC389791 9 hypothetical gene supported by AK094537 LCN2 9q34 lipocalin 2 (oncogene 24p3) C9orf16 9q34.1 chromosome 9 open reading frame 16 CIZ1 9q34.13 chromosome 9 open reading frame 16 DNM1 9q34 dynamin 1 GOLGA2 9q34.13 golgi autoantigen, golgin subfamily a, 2 LOC375757 9q34.13 hypothetical protein LOC375757 FLJ21673 9q34.13 hypothetical protein FLJ21673 CLONE24922 COQ4 9q34.13 coenzyme Q4 homolog (yeast) TMSL4 9 thymosin-like 4 SLC27A4 9q34.13 solute carrier family 27 (fatty acid transporter), member 4 C9orf74 9q34.13 chromosome 9 open reading frame 74 CEECAM1 9q34.13 cerebral endothelial cell adhesion molecule 1 LOC392394 9 similar to hypothetical protein ODF2 9q34 outer dense fiber of sperm tails 2 GLE1L 9q34.13 GLE1 RNA export mediator-like (yeast) SPTAN1 9q34.13 spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) MGC20486 9q34.13 hypothetical protein MGC20486 SET 9q34 SET translocation (myeloid leukemia-associated) pknbeta 9q34.13 protein kinase PKNbeta ZDHHC12 9q34.2 zinc finger, DHHC domain containing 12 C9orf60 9q34.13 chromosome 9 open reading frame 60 TBC1D13 9q34.13 TBC1 domain family, member 13 ENDOG 9q34.1 endonuclease G HSPC109 9q34.13 hypothetical protein HSPC109 CCBL1 9q34.1 cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase) LRRC8 9q34.2 leucine rich repeat containing 8 PHYHD1 9q34.13 phytanoyl-CoA dioxygenase domain containing 1 TMEM15 9q34.13 transmembrane protein 15 KIAA0169 9q34.13 transmembrane protein 15 SH3GLB2 9q34 SH3-domain GRB2-like endophilin B2 C9orf54 9q34.13 chromosome 9 open reading frame 54 DOLPP1 9q34.1 chromosome 9 open reading frame 54 CRAT 9q34.1 carnitine acetyltransferase PPP2R4 9q34.1 protein phosphatase 2A, regulatory subunit B' (PR 53) LOC389792 9 similar to RIKEN cDNA 2610524G09
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 polyA site 2863 33.5 290 - 2011 21515671
    8 polyA site 2936 32 277 - 2011 21515671
    - - 2562 - 266 - 2011 21515671
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   moderately
    Endocrinepancreas   moderately
    Hearing/Equilibriumearinnercochlea highly
    Reproductivefemale systemuterus  moderately
    Respiratorylung   moderately
    Urinarybladder   highly
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connective   moderately
    Connectivebone  highly
    cell lineage
    cell lines
    at STAGE
    physiological period embryo
    Text in pharyngeal arch 1, embyonic tissue, umbilical cord
  • a central region involved in the binding of the globular part of histone H3
  • an extended highly acidic C terminal region, and the N-terminal dimerisation domain, as well as the H3 N-terminal tail, are dispensable for this interaction
  • conjugated PhosphoP
    interspecies homolog to yeast NAP-1(32kD)
    homolog to C.elegans C27b7.1
    homolog to rattus Set (97.63 pc)
    homolog to murine Set (98.42 pc)
    FAMILY nucleosome assembly family
    CATEGORY regulatory , DNA associated , transcription factor , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
  • associated with the endoplasmic reticulum
  • localized throughout the nucleoplasm of interphase cells
  • basic FUNCTION
  • template activating factor I, beta isoform (DNA replication factor)
  • potent and specific inhibitor of protein phosphatase 2A (PPP2AC)
  • involved in DNA replication, in nuclear organization and biogenesis
  • histone chaperone involved in cell-cycle control and chromatin remodeling
  • regulates the CREBBP-mediated transcription
  • required for transcription of chromatin templates by RNA polymerase Pol II
  • with PARP1, may function by physically removing chromatin-bound DEK
  • negative regulator of neuronal development
  • plays a role in MCPH1-mediated chromosome condensation/decondensation
  • important regulator of chromosome condensation/decondensation and disruption of the MCPH1-SET interaction might be important for the pathogenesis of primary microcephaly
  • potent inhibitor of the protein phosphatase 2A (PP2A) tumor suppressor
  • CELLULAR PROCESS nucleotide, replication
    nucleotide, transcription, regulation
    a component
    DNA binds chromatin, dissociating DEK and PARP1 to allow transcription in the absence of NAD+
    small molecule
  • binding specifically to mitotic cyclin B, MMG2, P35(NCK5A), P39(NCK5AI)
  • binding to TATA-box binding protein (TBP)
  • interacts directly with the acetyltransferase CREB-binding protein (CBP) and enhances the transactivation potential of the transcription coactivator
  • interacting wth DEK and PARP1 (constitute a network governing access to chromatin by the transcription machinery)
  • MCPH1-associated protein and an important negative regulator of chromosome condensation
  • PRKD2 is involved in the regulation of PP2A activity in activated T cells through phosphorylation of Ser171 of SET
  • cell & other
    Phosphorylated by PRKD2
    corresponding disease(s) SET , MRD58
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    chimeric protein resulting from the fusion SET-CAN in the translocation t (6;9) in acute undifferentiated leukemia
    tumoral     --over  
    in Wilms tumor
    tumoral     --over  
    in B-cell chronic lymphocytic leukemia (CLL), correlated significantly with disease severity (shorter time to treatment and overall survival)
    tumoral fusion      
    SET-NUP214 in acute myeloid leukemia- and T-cell acute lymphoblastic leukemia (
    Variant & Polymorphism
    Candidate gene
    Therapy target
    new treatment target in B-cell malignancies and SET antagonists represent novel agents for treatment of B-cell chronic lymphocytic leukemia b and non-Hodgkin lymphoma