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FLASH GENE
Symbol BCOR contributors: mct/npt/pgu - updated : 04-11-2017
HGNC name BCL6 co-repressor
HGNC id 20893
Corresponding disease
MCOPS2 microphthalmia with associated anomalies-2
OFCD oculofaciocardiodental syndrome
Location Xp11.4      Physical location : 39.910.500 - 40.036.582
Synonym symbol(s) ANOP2, FLJ20285, FLJ38041, KIAA1575, MGC131961, MGC71031, MAA2, MCOPS2
DNA
TYPE functioning gene
STRUCTURE 126.08 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
15 - 6334 192 1721 - 2009 19578371
- - 3676 - 1004 - 2009 19578371
short form
15 - 6405 - 1721 - 2009 19578371
14 - 6351 - 1703 - 2009 19578371
- - 6436 - 1755 - 2009 19578371
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
nervousbraindiencephalon   
Reproductivemale systemtestis   
Visualeyeanterior segment   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text embryonic stem cells
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one ring-type zinc finger
  • three ANK repeats
  • two BRCT domains
  • PCGF Ub-like fold discriminator (PUFD) domain bound to PCGF1 (PMID;
  • mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies ortholog to murine Bcor
    Homologene
    FAMILY
  • BCOR family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • required for germinal center formation and may be influencing apoptosis
  • uses a unique combination of epigenetic modifications to direct gene silencing
  • potentiates transcriptional repression by the proto-oncoprotein BCL6 and suppresses the transcriptional activity of a common mixed-lineage leukemia fusion partner, AF9
  • implicated in BRCA1-mediated tumor suppression
  • maintained tissue homeostasis and gene silencing through epigenetic mechanisms
  • is required for left-right patterning during development
  • appears to be involved not only in human congenital diseases, but also in a human cancer
  • role for BCOR during normal optic cup development in preventing colobomata
  • transcription regulatory factor that plays an essential role in normal hematopoiesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • complex comprising BCOR-BCL6-IRF8 modulates BCL6-associated transcriptional regulation of germinal center B cell function
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • selectively interacting with the POZ domain of BCL6, but not with eight other POZ proteins
  • bind competitively to the BCL6 BTB domain despite the fact that BCOR has no detectable sequence similarity to the other two corepressors through a 17 AAs motif from BCOR that binds directly to the BCL6 BTB domain
  • serves as a transcriptional corepressor that potentiates transcriptional repression by B cell leukemia/lymphoma 6 (BCL6)
  • binds the RING finger- and WD40-associated ubiquitin-like (RAWUL) domain of PCGF1 (NSPC1) and PCGF3
  • likely HDAC1 functionally interacts with BCOR during eye development and, along with BCL6, act together to mediate normal optic cup formation by preventing colobomata
  • RNF2 functionally interacts with BCOR and is required to prevent colobomata
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MCOPS2 , OFCD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    fusion partner of RARA in a t(X;17)(p11;q12) variant of acute promyelocytic leukemia
    tumoral somatic mutation      
    in myelodysplastic syndromes, and n chronic myelomonocytic leukemia
    tumoral fusion      
    with CCNB3, in bone sarcomas biologically distinct from other sarcomas, particularly Ewing sarcoma
    tumoral     --low  
    decrease with age, and age-associated BCOR down-regulation might potentially contribute to age-related epigenetic alterations and form a predisposing condition for the development of elderly AML
    tumoral fusion      
    ZC3H7B-BCOR gene fusion has been described in a subset of myxoid high-grade endometrial stromal sarcomas
    tumoral fusion      
    ZC3H7B-BCOR fusion in myxoid smooth muscle neoplasia of the uterus
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • BCOR mutations were an independent unfavorable prognostic factor for both overall survival (OS)and relapse-free survival (RFS) in acute myeloid leukemia (AML)
  • Therapy target
    ANIMAL & CELL MODELS