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FLASH GENE
Symbol SCML2 contributors: mct/npt - updated : 20-12-2019
HGNC name sex comb on midleg-like 2 (Drosophila)
HGNC id 10581
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • regions of homology with Drosophila : two N terminus MBT domains (Drosophila lethal malignant brain tumor), binding to peptides containing monomethylated lysine
  • C terminal SPM domain of the polycomb PcG genes
  • HOMOLOGY
    interspecies homolog to Drosophila sex comb on midleg-like 2 (member of polycomb group (PcG))
    homolog to murine Scml2
    intraspecies homolog to SCML1
    paralog to SCMH1
    Homologene
    FAMILY
  • SCM family
  • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome,centromere
    text
  • accumulates on pericentromeric heterochromatin (PCH) in male germ cells
  • basic FUNCTION
  • involved in transcriptional repression of HOX genes
  • involved in the maintenance of repression and the blocking of chromatin remodeling (Sathyamurthy 2003)
  • SCML2 participates likely in the epigenetic control of transcription directly and in cooperation with Polycomb repressive complex-1 (PRC1)
  • RNF8 and SCML2 cooperate to regulate ubiquitination during meiosis, an early step to establish active histone modifications for subsequent gene activation
  • SCML2-dependent H3K27me3 in the male germline prepares the expression of developmental regulator and somatic genes in embryonic development
  • germline-specific Polycomb protein, as a critical regulator of heterochromatin organization in spermatogenesis
  • SCML2 is required for heterochromatin organization, and the loss of SCML2 leads to the formation of ectopic patches of facultative heterochromatin
  • coordinates likely the organization of heterochromatin and gene expression through the regulation of Polycomb complexes
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text embryogenesis and morphogenesis
    PATHWAY
    metabolism
    signaling
  • SCML2/USP7 complex constitutes a novel molecular pathway in modulating the epigenetic state of sex chromosomes during male meiosis
  • a component
  • constituent of the polycomb repressive complex 1, a large multiprotein assembly required for the repression of developmental control genes (Santiveri 2008)
  • INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • USP7 cooperates with SCML2 to regulate the activity of Polycomb repressive complex-1 (PRC1)
  • SCML2 interacts with and recruits a deubiquitinase, USP7, to the XY body in spermatocytes
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • loss of Scml2 in mice causes defective spermatogenesis, resulting in sharply reduced sperm production