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FLASH GENE
Symbol BCOR contributors: mct/npt/pgu - updated : 04-11-2017
HGNC name BCL6 co-repressor
HGNC id 20893
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