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FLASH GENE
Symbol SETDB2 contributors: mct/npt - updated : 24-03-2009
HGNC name SET domain, bifurcated 2
HGNC id 20263
Location 13q14.3      Physical location : 50.018.428 - 50.069.138
Synonym name
  • chronic lymphocytic leukemia deletion region gene 8
  • chromosome 13 open reading frame 4
  • lysine N-methyltransferase 1F
  • Synonym symbol(s) CLLD8, CLLL8, C13orf4, KMT1F, DKFZp586I0123, DKFZp761J1217
    EC.number 2.1.1.43
    DNA
    TYPE functioning gene
    STRUCTURE 47.79 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    SUCLA2 13q12.2-q13.3 succinate-CoA ligase, ADP-forming, beta subunit NUDT15 13q14.12 nudix (nucleoside diphosphate linked moiety X)-type motif 15 VDRIP 13q14.12 vitamin D receptor interacting protein ITM2B 13q14.3 integral membrane protein 2B RB1 13q14.2 retinoblastoma 1 (including osteosarcoma) P2RY5 13q14 purinergic receptor P2Y, G-protein coupled, 5 CHC1L 13q14.3 chromosome condensation 1-like CYSLTR2 13q14.12-p21.1 cysteinyl leukotriene receptor 2 LOC338099 13q13 proteasome activator subunit 2 pseudogene KIAA0970 13q14.11 proteasome activator subunit 2 pseudogene RAD17P2 13q14.3 RAD17 homolog (S. pombe) pseudogene 2 COX7CP1 13q14-q21 cytochrome c oxidase subunit VIIc pseudogene 1 LOC387924 13 similar to hypothetical protein FLJ10826 GPR38 13q14-q21 G protein-coupled receptor 38 CDADC1 13q14.12 cytidine and dCMP deaminase domain containing 1 FLJ12577 13q14.12 hypothetical protein FLJ12577 SETDB2 13q14 SET domain, bifurcated 2 PHF11 13q14.12 PHD finger protein 11 RCBTB1 13q14 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 ARLTS1 EBRP 13q12-q13 emopamil binding related protein, delta8-delta7 sterol isomerase related protein KPNA3 13q14.3 karyopherin alpha 3 (importin alpha 4) LOC220429 13q14.13 similar to Meningioma-expressed antigen 6/11 (MEA6) (MEA11) C13orf1 13q14 chromosome 13 open reading frame 1 RFP2 13q14 ret finger protein 2 KCNRG 13q14.11 potassium channel regulator DLEU2 13q14.2-q14.3 deleted in lymphocytic leukemia, 2 DLEU1 13q14.2-q14.3 deleted in lymphocytic leukemia, 1 FAM10A4 13q14.3 family with sequence similarity 10, member A4 DLEU7 13q14.13 deleted in lymphocytic leukemia 7 FLJ11712 13q14.13 hypothetical protein FLJ11712 GUCY1B2 13q14.3 guanylate cyclase 1, soluble, beta 2 LOC387925 13 LOC387925 LOC341674 13q14.13 similar to ribosomal protein L5; 60S ribosomal protein L5 FLJ30707 13q14.13 hypothetical protein FLJ30707 DDX26 13q14.12-q14.2 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 3307 81.7 719 - PMID: 20404330
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Reproductivefemale systemovary   
     male systemtestis   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a SET domain and the adjacent pre-SET cysteine-rich regions, together with a methyl-binding domain (MBD) also found in protein with affinity to methylated DNA
  • a methyl CpG binding domain
  • HOMOLOGY
    intraspecies homolog to SETDB1
    Homologene
    FAMILY
  • histone-lysine methyltransferase family
  • CATEGORY enzyme , DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • may be associated with methylation-mediated transcriptional repression
  • may be involved in critical cellular processes such as cell cycle and transcriptional control and could therefore be directly or indirectly involved in leukemogenesis
  • contributes to the trimethylation of both interspersed repetitive elements and centromere-associated repeats and participates in the recruitment of heterochromatin protein 1 to centromeres
  • recruited to heterochromatin regions and contributes to the deposition of trimethyl marks in concert with SUV39H1/KMT1A
  • might regulate the level of H3K9 trimethylation and genome stability in human cells
  • CELLULAR PROCESS nucleotide, chromatin organization, methylation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein interacting with MPHOSPH8
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion    
    frequently deleted in B-cell chronic lymphocyte leukemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS