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FLASH GENE
Symbol SUZ12 contributors: mct - updated : 29-04-2010
HGNC name suppressor of zeste 12 homolog (Drosophila)
HGNC id 17101
Corresponding disease
NF1DEL neurofibromatosis type 1 (see NF1) caused by microdeletions in 17q11.2
Location 17q11.2      Physical location : 30.264.043 - 30.328.057
Synonym name
  • joined to JAZF1, in the region of NF1
  • KIAA0160 protein
  • ChET 9 protein
  • polycomb protein SUZ12
  • chromatin precipitated E2F target 9 protein
  • ChET 9 protein
  • Synonym symbol(s) KIAA0160, CHET9, JJAZ1
    DNA
    TYPE functioning gene
    STRUCTURE 64.01 kb     16 Exon(s)
    MAPPING cloned Y linked N status provisional
    regionally located NF1 region, gross deletion
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 4477 - 739 - 2002 12435631
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas    
    Hearing/Equilibriumearinnercochlea highly
    Lymphoid/Immunelymph node   highly
    Nervousbrainlimbic systemhippocampus  
     brainhindbraincerebellumcerebellar cortexhighly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
     bone marrow  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    NervousPurkinje cell
    Nervouspyramidal cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text pancreas
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • C terminal zinc finger domain
  • HOMOLOGY
    interspecies homolog to drosophila Suz12
    Homologene
    FAMILY
  • VEFS (VRN2-EMF2-FIS2-SU(Z)12) family
  • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • polycomb group protein mediating mitotic recombination causing somatic mosaicism in NF1
  • strong suppressor of position effect variegation
  • playing a necessary role for trimethylation of histone H3 on lysine 27 (H3K27me3) on facultative heterochromatin, and regulating H3-K9 methylation in an EZH2-independent fashion
  • playing a role in constitutive heterochromatin formation
  • silences CEBPD promoter activity, enhancing the methylation of exogenous CEBPD promoter through the proximal CpG islands
  • both EED and SUZ12 are required for the integrity of PRC2 and PRC2-mediated H3K27 methylation
  • promotes the proliferation of human epithelial ovarian cancer cells by inhibiting apoptosis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • part of EED/EZH2 histone methyltransferase complexes
  • component of the polycomb repressive complex 2 (PRC2)
  • part of PRC2 complex containing four core components: EZH2, EED, SUZ12, and RBBP7
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • . interacting with SNAI1 (SNAI1 increases the binding of SUZ12 to the CDH1 promoter and the trimethylation of lysine 27 in histone H3)
  • Yin-Yang-1 (YY1) physically interacts with SUZ12 and can act as a mediator to recruit the polycomb group proteins and DNA methyltransferases to participate in the CEBPD gene silencing process
  • putative target of the WNT noncanonical signaling pathway
  • interacts with EED, EZH2 and RBBP4 to form the polycomb repressive complex 2 (PRC2), which functions to initiate epigenetic silencing of genes involved in cell fate decisions
  • positive correlation between expression of SUZ12 and EZH2
  • HRK is a novel SUZ12 target gene whose upregulation contributes to apoptosis induced by SUZ12 knockdown
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NF1DEL
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   translocation    
    with JAZF1 in t(7;17) (p15;q21) in endometrial stromal sarcoma
    tumoral     --over  
    in bone marrow samples of patients at the blastic phase of chronic myeloid leukemia
    tumoral     --over  
    in epithelial ovarian cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS