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FLASH GENE
Symbol EMSY contributors: mct - updated : 05-09-2007
HGNC name chromosome 11 open reading frame 30
HGNC id 18071
Location 11q13.5      Physical location : -
Synonym name EMSY protein
Synonym symbol(s) C11orf30, GL002, FLJ90741
DNA
TYPE functioning gene
STRUCTURE 106.00 kb     21 Exon(s)
regulatory sequence
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type widely
constitutive of
   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 unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    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
  • 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)
    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
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS