BCOR - BCL6 corepressor Gene

Also Known as MAA2; ANOP2; MCOPS2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54880

About BCOR

Cytogenetic location: Xp11.4 Genomic coordinates (GRCh38): X:40,051,246-40,177,329 (from NCBI)

This gene has 17 transcripts (splice variants), 249 orthologues, 1 paralogue and is associated with 156 phenotypes. Ubiquitous expression in thyroid (RPKM 8.0), lymph node (RPKM 7.0) and 25 other tissues.

Summary

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. Several transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome Y.[provided by RefSeq, Jun 2010]

BCOR Products (4)

mRNA	Protein	Name
NM_001123383.1	NP_001116855.1	BCL-6 corepressor isoform a
NM_001123384.2	NP_001116856.1	BCL-6 corepressor isoform b
NM_001123385.2	NP_001116857.1	BCL-6 corepressor isoform c
NM_017745.6	NP_060215.4	BCL-6 corepressor isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	10898795	GOA
enables heat shock protein binding	IDA IDA: Inferred from direct assay	16943429	GOA
enables histone deacetylase binding	IPI IPI: Inferred from physical interaction	10898795	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16713569	GOA
enables transcription cis-regulatory region binding	IMP IMP: Inferred from mutant phenotype	19578371	GOA
enables transcription corepressor activity	IDA IDA: Inferred from direct assay	10898795	GOA
enables transcription corepressor activity	IMP IMP: Inferred from mutant phenotype	15878880	GOA
contributes to ubiquitin-protein transferase activity	IDA IDA: Inferred from direct assay	16943429	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in chromatin remodeling	IDA IDA: Inferred from direct assay	16943429	GOA
involved in heart development	IMP IMP: Inferred from mutant phenotype	17517692	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	10898795	GOA
involved in negative regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	15878880	GOA
involved in negative regulation of bone mineralization	IMP IMP: Inferred from mutant phenotype	19578371	GOA
involved in negative regulation of tooth mineralization	IMP IMP: Inferred from mutant phenotype	19578371	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	19578371	GOA
involved in odontogenesis	IMP IMP: Inferred from mutant phenotype	17517692	GOA
involved in roof of mouth development	IMP IMP: Inferred from mutant phenotype	17517692	GOA
involved in specification of axis polarity	IMP IMP: Inferred from mutant phenotype	17517692	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of BCOR complex	IDA IDA: Inferred from direct assay	16943429	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10898795	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BCOR Protein Structure

Ank_2

0
300
600
900
1200
1500
1755 a.a.

Protein Preferred Names	Protein Names
BCL-6 corepressor	BCL-6 coreceptor

BCOR Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	BCOR	Q6W2J9	USP7	Homo sapiens	Q93009	Anti Tag CoIP	26496610
Intra	BCOR	Q6W2J9	KDM2B	Homo sapiens	Q8NHM5	TAP	27505670
Intra	BCOR	Q6W2J9	KDM2B	Homo sapiens	Q8NHM5	Anti Tag CoIP	26496610
Intra	BCOR	Q6W2J9	KDM2B	Homo sapiens	Q8NHM5	Anti Bait CoIP	16943429
Intra	BCOR	Q6W2J9	CBX8	Homo sapiens	Q9HC52	Anti Bait CoIP	27505670
Intra	BCOR	Q6W2J9	CBX8	Homo sapiens	Q9HC52	TAP	27505670
Intra	BCOR	Q6W2J9	PCGF1	Homo sapiens	Q9BSM1	Anti Bait CoIP	16943429
Intra	BCOR	Q6W2J9	PCGF1	Homo sapiens	Q9BSM1	TAP	27505670
Intra	BCOR	Q6W2J9	PCGF1	Homo sapiens	Q9BSM1	Pull Down	16943429
Intra	BCOR	Q6W2J9	PCGF1	Homo sapiens	Q9BSM1	Anti Tag CoIP	26496610

Cross: Cross-species interaction Intra: Intraspecies interaction

BCOR Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810251	BCoR Antibody (YA9595)	WB, ICC/IF, IF-Tissue, IP, ELISA	human

Related Diseases

Diseases	Alias
Microphthalmia, Syndromic 2	Oculofaciocardiodental Syndrome Ofcd Syndrome MCOPS2 Microphthalmia, Cataracts, Radiculomegaly, And Septal Heart Defects Syndromic Microphthalmia 2 Anop2 Cataract-Microphthalmia-Radiculomegaly-Cardiac Septal Defect Syndrome Maa2 Microphthalmia Cataracts Radiculomegaly And Septal Heart Defects Syndromic Microphthalmia Type 2 Oculo-Facio-Cardio-Dental Syndrome Anop2, Formerly Maa2, Formerly Microphthalmia Syndromic 2 Oculo Facio Cardio Dental Syndrome Microphthalmia, Syndromic, 2 Marashi-Gorlin Syndrome Microphthalmia, Cataracts, Radiculomegaly And Septal Heart Defects Microphthalmia, Syndromic, Type 2
Microphthalmia, Syndromic 1	MCOPS1 Lenz Microphthalmia Syndrome Lenz Dysplasia Mcops4 Syndromic Microphthalmia 1 Lenz Microphthalmia Maa Microphthalmia Or Anophthalmos With Associated Anomalies Syndromic Microphthalmia Type 4 Microphthalmia, Syndromic 4 Microphthalmia, Syndromic 4, Formerly Mcops4, Formerly Anop1, Formerly Maa, Formerly Lenz Type Microphthalmia Syndromic Microphthalmia 4 Microphthalmia Lenz Type Microphthalmia Syndromic 1 Syndromic Microphthalmia Type 1 Microphthalmia Syndromic 4 Microphthalmia With Ankyloblepharon And Intellectual Disability Microphthalmia, Lenz Type Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome Microphthalmia, Syndromic, 1 Anop1 Microphthalmia, Syndromic, Type 1
Kidney Clear Cell Sarcoma	Clear Cell Sarcoma Of Kidney Childhood Kidney Clear Cell Sarcoma Renal Clear Cell Sarcoma Ccsk Clear Cell Sarcoma Of The Kidney
Leukemia, Acute Myeloid	Acute Myeloid Leukemia Leukemia, Acute Myelogenous Acute Myelogenous Leukemia AML Leukemia, Acute Myeloid, Susceptibility To Acute Myeloblastic Leukemia Leukemia, Acute Myeloid, Reduced Survival In, Somatic Acute Myeloid Leukaemia Leukemia, Myelocytic, Acute Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome Secondary Aml Acute Myelocytic Leukemia Acute Myeloid Leukemia, Somatic Leukemia, Acute Myeloid, Somatic Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic Acute Myeloblastic Leukaemia Acute Myelogenous Leukaemia Aml - Acute Myeloid Leukemia Acute Myeloid Leukemia With Cebpa Somatic Mutations Aml With Cebpa Somatic Mutations Inherited Acute Myeloid Leukemia Familial Aml Inherited Aml Pure Familial Aml Pure Familial Acute Myeloid Leukemia Secondary Acute Myeloid Leukemia Therapy-Related Aml And Myelodysplastic Syndrome Acute Myeloid Leukemia, Secondary Acute Non-Lymphoblastic Leukemia Acute Non-Lymphocytic Leukemia Acute Biphenotypic Leukemia Acute Undifferentiated Leukemia Acute Myeloblastic Leukaemia With Multilineage Dysplasia Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission Acute Myeloid Leukaemia With Myelodysplasia-Related Features
Acute Promyelocytic Leukemia	Leukemia, Acute Promyelocytic Acute Myeloblastic Leukemia Type 3 Aml M3 APL Leukemia, Acute Promyelocytic, Somatic Aml With T(15 17)(Q22 Q12) (Pml/Raralpha) And Variants Apml Acute Myeloblastic Leukemia 3 Acute Myeloid Leukemia With T(15 17)(Q22 Q12) (Pml/Raralpha) And Variants Acute Myeloblastic Leukaemia Type 3 Acute Myeloid Leukaemia M3 Acute Myeloid Leukemia M3 Acute Promyelocytic Leukaemia M3 Anll Myeloid Leukemia, Acute, M3 Leukemia Promyelocytic Acute Leukemia, Promyelocytic, Acute Leukemia, Acute, Promyelocytic
Adenoid Cystic Carcinoma	Adenocystic Carcinoma Cribriform Carcinoma Cylindroma Carcinoma Adenoid Cystic Carcinoma, Adenoid Cystic Adenoid Cystic Carcinoma Of Salivary Gland Eccrine Dermal Cylindroma Carcinoma, Cribriform
Microphthalmia	Microphthalmos Isolated Anophthalmia-Microphthalmia Syndrome Isolated Microphthalmia-Anophthalmia-Coloboma Simple Microphthalmos Clinical Anophthalmia Isolated Anophthalmia - Microphthalmia Isolated Pure Microphthalmia Mac Spectrum Microphthalmia-Anophthalmia-Coloboma Spectrum Primitive Anophthalmia Globe Of Eye Small Small Eyeball Hypoplasia Of Eye Isolated Nanophthalmos Rudimentary Eye Dysplasia Of Eye
Extraocular Retinoblastoma	Pediatric Extraocular Retinoblastoma
B-Cell Lymphoma	Lymphoma, B-Cell B-Cell Lymphomas B-Cell Lymphocytic Neoplasm Lymphoma B-Cell B-Cell Lymphoma Nos
Syndromic Microphthalmia	Microphthalmia, Syndromic
Ventricular Septal Defect	Ventricular Septal Defects Interventricular Septal Defect Heart Septal Defects, Ventricular Ventricular Septal Abnormality Interventricular Septum Defect Ventricular Septum Defect Vsd - [Ventricular Septum Defect] Congenital Ventricular Septal Defect Single Ventricular Septal Defect
Adenosarcoma	Mullerian Adenosarcoma
Intraocular Retinoblastoma	Pediatric Intraocular Retinoblastoma
Diffuse Large B-Cell Lymphoma	Dlbcl Diffuse Large B-Cell Lymphoma, Not Otherwise Specified Large B-Cell Diffuse Lymphoma Lymphoma, Large B-Cell, Diffuse Dlbcl - [Diffuse Large B-Cell Lymphoma] Diffuse Large Beta Cell Lymphoma
Hypertrichosis
Radioulnar Synostosis	Radio-Ulnar Synostosis Type 1
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P10566	BCOR(498-514), biotinylated	Inhibitor	/	Unkown
HY-RS01448	BCOR Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21299	Bcor Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27818	Bcor Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	BCOR	VGNC	VGNC:97366
Mus musculus	BCOR	MGD	MGI:1918708
Macaca mulatta	BCOR	VGNC	VGNC:97738
Rattus norvegicus	BCOR	RGD	RGD:1562735
Canis familiaris	BCOR	VGNC	VGNC:53706
Bos taurus	BCOR	VGNC	VGNC:56520
Others	BCOR	NCBI