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FLASH GENE
Symbol ESCO2 contributors: mct - updated : 28-03-2015
HGNC name establishment of cohesion 1 homolog 2 (S. cerevisiae)
HGNC id 27230
Corresponding disease
RBS Roberts syndrome
Location 8p21.1      Physical location : 27.632.057 - 27.662.422
Synonym name
  • N-acetyltransferase ESCO2
  • ECO1 homolog 2
  • Synonym symbol(s) EFO2, 2410004I17Rik
    EC.number 2.3.1.-
    DNA
    TYPE functioning gene
    STRUCTURE 30.37 kb     11 Exon(s)
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure
  • a selenocysteine tRNA-activating factor (Staf) binding site in the promoter (Nishihara 2010)
  • ZNF143 (a Staf homolog) binds to the ESCO2 promoter for the transcriptional activation (Nishihara 2010)
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text
  • start codon in exon 2 and stop codon in exon 11
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 3376 68 601 - Kim (2008)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine   
     mouthtongue  highly
    Lymphoid/Immunelymph node   highly
     thymus    
    Reproductivefemale systemovary   
     male systemtestis   
    Urinarybladder   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, pregnancy
    cell cycle     cell cycle, S
    Text placenta, all tissues
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal domain has no homology with any other proteins and is required for ESCO2 binding to chromosomes
  • C-terminal Eco1p
  • C2H2 Zn finger-like
  • acetyltransferase domains
  • HOMOLOGY
    interspecies ortholog to yeast Eco1
    Homologene
    FAMILY
  • Eco1p family
  • acetyltransferase family
  • GCN5 subfamily
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of mitosis
  • having a function in transcription repression through modulation of the chromatin structure
  • having transcriptional repression activity through its interacting proteins
  • required for proper sister chromatid cohesion (van der Lelij 2009)
  • having an S phase-specific role in the maintenance of genome stability (van der Lelij 2009)
  • acetyltransferase that is required for the establishment of sister chromatid cohesion
  • may play an important role in neurogenesis by attenuating Notch signaling to promote neuronal differentiation
  • ESCO2 functions non-redundantly with ESCO1
  • is needed for cohesin acetylation in pericentric heterochromatin and this modification is required for the proper distribution of cohesin on mitotic chromosomes and for centromeric cohesion
  • is also required for double-strand break (DSB) repair, which is consistent with previous studies in RBS cells
  • may play a vital role in meiosis in both males and females
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with several component proteins of the CoREST complex, including a transcription corepressor CoREST, histone demethlyase and with various histone methyltransferases SUV39H1, SETDB1 and EHMT2
  • represses the transactivational activity of NOTCH protein in an acetyltransferase-independent manner
  • cohesin acetyltransferases ESCO1 and ESCO2 play a vital role in establishing sister chromatid cohesion
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RBS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS