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FLASH GENE
Symbol L3MBTL2 contributors: mct/npt/pgu - updated : 20-12-2019
HGNC name l(3)mbt-like 2 (Drosophila)
HGNC id 18594
Location 22q13.2      Physical location : 41.601.312 - 41.627.274
Synonym name
  • lethal (3) malignant brain tumor-like 2
  • H-l(3)mbt-like protein
  • Synonym symbol(s) dJ756G23.3, H-l(3)mbt-l, DKFZP761I141, L3MBT
    DNA
    TYPE functioning gene
    STRUCTURE 25.96 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 splicing 3205 79.1 705 - 2001 11682070
    in the nucleus
    - splicing 3800 69 614 - 2001 11682070
  • having exon 15
  • in the cytosol
  • a N terminal C2-C2 zinc finger and four mbt repeats
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticthymus   highly
    Cardiovascularheart   highly
    Digestiveliver   highly
    Endocrinepancreas   predominantly
    Nervousbrain   predominantly
    Reproductivemale systemtestis  highly Homo sapiens
    Respiratorylung    
    Urinarykidneytubuleconvoluted tubule highly Mus musculus
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivespermatocyte Homo sapiens
    Urinaryepithelial cell Mus musculus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text highly in placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a C2-C2 zinc finger in the N terminus, a beta-hairpin
  • an alpha-helix with a zinc ligands situated in the beta-hairpin and at the N-terminus of the alpha-helix an arrangement typical of the treble clef class of zinc fingers
  • four-MBT-repeat, binding lower methylated lysine histones
  • a FCS zinc finger domain that my binds bind to regulatory RNAs
  • a potential nuclear localization signal in the C terminus
  • HOMOLOGY
    interspecies homolog to C.elegans R06C7.7
    homolog to Drosophila T13797
    homolog to Drosophila Sfmbt critical for Hox gene silencing
    Homologene
    FAMILY
  • mbt family
  • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • chromatin-associated protein, effector of SUMO-dependent changes in chromatin structure and gene expression
  • preferentially recognize lower methylation states of several histone-derived peptides through its fourth MBT repeat
  • concerted action of both HDAC3 and L3MBTL2 in histone deacetylation and methylation-dependent transcriptional repression
  • acts in concert with PcG protein-mediated monoubiquitination of HIST2H2AC to establish a repressive chromatin structure
  • L3MBTL2 assembles an atypical Polycomb Repressive Complex1 (PRC1)-family complex that is essential in pluripotent stem cells and early development
  • L3MBTL2 plays a protective role in kidney injury, in part by inhibiting the DNA damage-TP53-apoptosis pathway
  • L3MBTL2 is a key target of RNF8 following DNA damage, demonstrating how the DNA damage response pathway is orchestrated by ubiquitin signalling
  • plays important roles in chromatin remodeling during meiosis and spermiogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • specifically interacts with the histone deacetylase domain of histone deacetylase 3 (HDAC3) via its MBT domain
  • L3MBTL2 is recruited by MDC1 and subsequently ubiquitylated by RNF8
  • L3MBTL2 interacted with the histone ubiquitin ligase RNF8
  • L3MBTL2 is the substrate of RNF8
  • cell & other
    REGULATION
    Other
  • SUMOylation of the polycomb group protein L3MBTL2 facilitates repression of its target genes
  • ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS