BCOR
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesBCOR, ANOP2, MAA2, MCOPS2, BCL6 corepressor
External IDsOMIM: 300485 MGI: 1918708 HomoloGene: 9809 GeneCards: BCOR
Orthologs
SpeciesHumanMouse
Entrez

54880

71458

Ensembl

ENSG00000183337

ENSMUSG00000040363

UniProt

Q6W2J9

Q8CGN4

RefSeq (mRNA)

NM_001168321
NM_029510
NM_175044
NM_175045
NM_175046

RefSeq (protein)

NP_001116855
NP_001116856
NP_001116857
NP_060215

NP_001161793
NP_083786
NP_778209
NP_778210
NP_778211

Location (UCSC)Chr X: 40.05 – 40.18 MbChr X: 11.9 – 12.03 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

BCL-6 corepressor is a protein that in humans is encoded by the BCOR gene.[5][6]

Function

The protein encoded by this gene was identified as an interacting corepressor of BCL6, a POZ/zinc finger transcription repressor that is required for germinal center formation and may influence apoptosis. This protein selectively interacts with the POZ domain of BCL6, but not with eight other POZ proteins. Specific class I and II histone deacetylases (HDACs) have been shown to interact with this protein, which suggests a possible link between the two classes of HDACs. At least four alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene.[6]

Clinical significance

Mutations in the BCOR gene cause a form of syndromic microphthalmia (small eye) called MCOPS2. This syndrome incorporates microphthalmia, congenital cataracts, cardiac defects, dental defects and skeletal anomalies. Mutations in this gene have also been found associated to acute myeloid leukemia.[7]

Interactions

BCOR has been shown to interact with MLLT3[8] and BCL6.[5]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000183337 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000040363 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 Huynh KD, Fischle W, Verdin E, Bardwell VJ (Jul 2000). "BCoR, a novel corepressor involved in BCL-6 repression". Genes & Development. 14 (14): 1810–23. doi:10.1101/gad.14.14.1810. PMC 316791. PMID 10898795.
  6. 1 2 "Entrez Gene: BCOR BCL6 co-repressor".
  7. Grossmann V, Tiacci E, Holmes AB, Kohlmann A, Martelli MP, Kern W, Spanhol-Rosseto A, Klein HU, Dugas M, Schindela S, Trifonov V, Schnittger S, Haferlach C, Bassan R, Wells VA, Spinelli O, Chan J, Rossi R, Baldoni S, De Carolis L, Goetze K, Serve H, Peceny R, Kreuzer KA, Oruzio D, Specchia G, Di Raimondo F, Fabbiano F, Sborgia M, Liso A, Farinelli L, Rambaldi A, Pasqualucci L, Rabadan R, Haferlach T, Falini B (Dec 2011). "Whole-exome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia with normal karyotype". Blood. 118 (23): 6153–63. doi:10.1182/blood-2011-07-365320. PMID 22012066.
  8. Srinivasan RS, de Erkenez AC, Hemenway CS (May 2003). "The mixed lineage leukemia fusion partner AF9 binds specific isoforms of the BCL-6 corepressor". Oncogene. 22 (22): 3395–406. doi:10.1038/sj.onc.1206361. PMID 12776190. S2CID 34517481.

Further reading


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