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BCL-6 corepressor - Wikipedia

From Wikipedia, the free encyclopedia

BCOR

Available structures

PDB

Ortholog search: PDBe RCSB

List of PDB id codes
3BIM, 4HPL, 2N1L

Identifiers

Aliases

BCOR, ANOP2, MAA2, MCOPS2, BCL6 corepressor

External IDs

OMIM: 300485; MGI: 1918708; HomoloGene: 9809; GeneCards: BCOR; OMA:BCOR - orthologs

Gene location (Human)

Chr.	X chromosome (human)^[1]

Band	Xp11.4	Start	40,049,815 bp^[1]
Band	Xp11.4	End	40,177,329 bp^[1]

Gene location (Mouse)

Chr.	X chromosome (mouse)^[2]

Band	X\|X A1.1	Start	11,902,979 bp^[2]
Band	X\|X A1.1	End	12,026,594 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

buccal mucosa cell

ganglionic eminence

ventricular zone

gonad

tibial arteries

gastrocnemius muscle

muscle of thigh

left ovary

islet of Langerhans

Descending thoracic aorta

Top expressed in

hand

tail of embryo

otolith organ

ascending aorta

utricle

submandibular gland

aortic valve

gastrula

lymph node

superior cervical ganglion

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	heat shock protein binding transcription factor binding histone deacetylase binding ubiquitin-protein transferase activity protein binding transcription corepressor activity RNA polymerase II transcription regulatory region sequence-specific DNA binding
Cellular component	PcG protein complex nucleus BCOR complex
Biological process	roof of mouth development negative regulation of bone mineralization regulation of transcription, DNA-templated negative regulation of histone H3-K36 methylation histone H2A monoubiquitination negative regulation of tooth mineralization transcription, DNA-templated odontogenesis specification of axis polarity heart development negative regulation of histone H3-K4 methylation negative regulation of transcription, DNA-templated negative regulation of transcription by RNA polymerase II chromatin organization blastocyst hatching
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


54880


71458

Ensembl


ENSG00000183337


ENSMUSG00000040363

UniProt


Q6W2J9


Q8CGN4

RefSeq (mRNA)

NM_001123383 NM_001123384 NM_001123385 NM_001130139 NM_017745
NM_020926


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 Mb

Chr X: 11.9 – 12.03 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000183337 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000040363 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b 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.
^ ^a ^b "Entrez Gene: BCOR BCL6 co-repressor".
^ 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.
^ 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.

External links

GeneReviews/NCBI/NIH/UW entry on Anophthalmia / Microphthalmia Overview
GeneReviews/NCBI/NIH/UW entry on Lenz Microphthalmia Syndrome
Human BCOR genome location and BCOR gene details page in the UCSC Genome Browser.

This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by expanding it.

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Function

Clinical significance

Interactions

References

Further reading

External links