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FLASH GENE
Symbol EMSY contributors: mct - updated : 02-12-2021
HGNC name EMSY transcriptional repressor, BRCA2 interacting
HGNC id 18071
DNA
TYPE functioning gene
STRUCTURE 108.10 kb     21 Exon(s)
regulatory sequence
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
22 - 7049 - 1337 - 2019 31154666
21 - 7007 - 1323 - 2019 31154666
21 - 7007 - 1323 - 2019 31154666
21 - 7004 - 1323 - 2019 31154666
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivefemale systemuteruscervix highly
 female systemplacenta  highly
 male systemprostate   
Respiratoryrespiratory tracttrachea  highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • EMSY N terminal domain (ENT)
  • a TUDOR-like domain (AGENET domain)
  • mono polymer homomer , dimer
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • repressor protein having the capacity to bind a small epitope within the BRCA2 exon 3-encoded transcriptional activation domain and specially silencing this activity
  • playing a role at least partially in the regulation of chromatin
  • involved in DNA damage repair, genomic instability, and chromatin remoldin
  • EMSY played an oncogenic role in the progression of ovarian cancer cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • with BRCA2 (links the BRCA2 pathway to sporadic breast and ovarian cancer)
  • bind BRCA2 and inactivate the function of BRCA2, leading to the development of sporadic breast and ovarian cancers
  • ZNF131, recruits EMSY to a large number of active, H3K4me3 marked promoters
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   amplification    
    in sporadic breast cancer and higher-grade ovarian cancer with poor prognosis
    tumoral     --over  
    in various sporadic cancers
    Susceptibility to prostate cancer and prostate cancer death
    Variant & Polymorphism SNP
  • the most significant association with prostate cancer and death is at rs12277366
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductiveovary
    might be a promising target for the treatment of ovarian cancer
    ANIMAL & CELL MODELS