InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BCOR

Summary

InnateDB Protein

IDBP-235553.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

BCOR

Protein Name

BCL6 corepressor

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000380512

InnateDB Gene

IDBG-56665 (BCOR)

Protein Structure

UniProt Annotation

Function

Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence- specific DNA-binding proteins such as BCL6 and MLLT3. This repression may be mediated at least in part by histone deacetylase activities which can associate with this corepressor. Involved in the repression of TFAP2A; impairs binding of BCL6 and KDM2B to TFAP2A promoter regions. Via repression of TFAP2A acts as a negative regulator of osteo-dentiogenic capacity in adult stem cells; the function implies inhibition of methylation on histone H3 'Lys-4' (H3K4me3) and 'Lys-36' (H3K36me2). {ECO:0000269PubMed:10898795, ECO:0000269PubMed:15004558, ECO:0000269PubMed:18280243, ECO:0000269PubMed:19578371, ECO:0000269PubMed:23911289}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:10898795}.

Disease Associations

Microphthalmia, syndromic, 2 (MCOPS2) [MIM:300166]: A very rare multiple congenital anomaly syndrome characterized by eye anomalies (congenital cataract, microphthalmia, or secondary glaucoma), facial abnormalities (long narrow face, high nasal bridge, pointed nose with cartilages separated at the tip, cleft palate, or submucous cleft palate), cardiac anomalies (atrial septal defect, ventricular septal defect, or floppy mitral valve) and dental abnormalities (canine radiculomegaly, delayed dentition, oligodontia, persistent primary teeth, or variable root length). Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. {ECO:0000269PubMed:15004558}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitously expressed. {ECO:0000269PubMed:10898795}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 38 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	38 [view]
Protein-Protein	36 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003714	transcription corepressor activity
GO:0004842	ubiquitin-protein transferase activity
GO:0005515	protein binding
GO:0008134	transcription factor binding
GO:0031072	heat shock protein binding
GO:0042826	histone deacetylase binding
GO:0044212	transcription regulatory region DNA binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0000415	negative regulation of histone H3-K36 methylation
GO:0006351	transcription, DNA-templated
GO:0007507	heart development
GO:0030502	negative regulation of bone mineralization
GO:0035518	histone H2A monoubiquitination
GO:0042476	odontogenesis
GO:0045892	negative regulation of transcription, DNA-templated
GO:0051572	negative regulation of histone H3-K4 methylation
GO:0060021	palate development
GO:0065001	specification of axis polarity
GO:0070171	negative regulation of tooth mineralization