1. Gene
  2. BCOR - BCL6 corepressor Gene

BCOR - BCL6 corepressor Gene

Homo sapiens

Also known as MAA2; ANOP2; MCOPS2

Gene ID: 54880 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

Ank_2: Ankyrin repeats (3 copies) (1467 - 1558)

  • 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 Reference
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

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

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