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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
Location Xp22.13      Physical location : 18.257.432 - 18.372.844
Synonym name sex comb on midleg-like 2
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster, opposite orientation
text clustered with SCML1, transcribed from centromere to telomere
STRUCTURE 115.78 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map see CDKL5
Physical map
ASB11 Xp22.31 ankyrin repeat and SOCS box-containing 11 PIGA Xp22.1 phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria) FIGF Xp22.1 c-fos induced growth factor (vascular endothelial growth factor D) PIR Xp22.31 c-fos induced growth factor (vascular endothelial growth factor D) BMX Xp22.2 BMX non-receptor tyrosine kinase ACE2 Xp22 angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 NX17 Xp22 kidney-specific membrane protein LOC340591 Xp22.31 similar to carbonic anhydrase VB, mitochondrial precursor; carbonic dehydratase CA5B Xp22.1 carbonic anhydrase VB, mitochondrial U2AF1L2 Xp22.1 U2(RNU2) small nuclear RNA auxiliary factor 1-like 2 AP1S2 Xp36.3-p21.3 adaptor-related protein complex 1, sigma 2 subunit GRPR Xp22.2-p22.13 gastrin-releasing peptide receptor LOC139451 Xp22.22 similar to melanoma antigen, family B, 4; melanoma-associated antigen B4 LOC139452 Xp22.22 similar to 60S ribosomal protein L6 (TAX-responsive enhancer element binding protein 107) (TAXREB107) (Neoplasm-related protein C140) LOC392429 X similar to Hspcb protein CTPS2 Xp22 CTP synthase II CALB3 Xp22.2 calbindin 3, (vitamin D-dependent calcium binding protein) SYAP1 Xp22.31 synapse associated protein 1, SAP47 homolog (Drosophila) CXorf15 Xp22.22 chromosome X open reading frame 15 RBBP7 Xp22.31 retinoblastoma binding protein 7 RNU4P6 Xp22.22 RNA, U4 small nuclear pseudogene 6 REPS2 Xp22.22 RALBP1 associated Eps domain containing 2 PRO0386 Xp22.22 hypothetical protein PRO0386 NHS Xp22.13 Nance-Horan syndrome (congenital cataracts and dental anomalies) SCML1 Xp22 sex comb on midleg-like 1 (Drosophila) LOC392430 X similar to dJ40E16.3 (novel gene similar to D. melanogaster CG5327 ) RAI2 Xp22 retinoic acid induced 2 LOC392431 X similar to Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse) MGC33653 Xp22.22 hypothetical protein MGC33653 SCML2 Xp22 sex comb on midleg-like 2 (Drosophila) CDKL5 Xp22 cyclin-dependent kinase-like 5 RS1 Xp22.2 retinoschisis (X-linked, juvenile) 1 PPEF1 Xp22.2-p22.1 protein phosphatase, EF hand calcium-binding domain 1 PHKA2 Xp22.2-p22.13 phosphorylase kinase, alpha 2 (liver) GPR64 Xp22.22 G protein-coupled receptor 64 PDHA1 Xp22.1 pyruvate dehydrogenase (lipoamide) alpha 1 LOC389840 X similar to MAP/ERK kinase kinase 5; apoptosis signal regulating kinase SH3KBP1 Xp22.3-p11.3 SH3-domain kinase binding protein 1 LOC256643 Xp22.13 hypothetical protein LOC256643 FLJ14503  hypothetical protein FLJ14503 EIF1A Xp22.1 eukaryotic translation initiation factor 1A RPS6KA3 Xp22.13 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
15 - 4162 77.13 700 - 2015 25605328
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticthymus   highly
Reproductivemale systemtestis  specific Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Lymphoid    
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
Reproductivegerm cell Homo sapiens
Reproductivespermatid Homo sapiens
Reproductivespermatocyte Homo sapiens
Reproductivespermatogonia Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta highly
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