BCOR

Chr XXLD

BCL6 corepressor

Also known as: ANOP2, MAA2, MCOPS2

NCBI Gene: 54880ENSG00000183337UniProt: Q6W2J9OMIM: 300485

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]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Microphthalmia, syndromic 2MIM #300166
XLD

Clinical highlights

Gene-disease validity (ClinGen)
microphthalmia, syndromic 2 · XLDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
8
Active trials
184
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.14
LOEUF· LoF intol.
LOF
Mechanism· G2P
📖
GeneReview available — BCOR
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.14LOEUF
pLI 1.000
Z-score 5.91
OE 0.04 (0.02–0.14)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?
1.88Z-score
OE missense 0.81 (0.75–0.86)
601 obs / 745.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.04 (0.02–0.14)
0≤0.351.4
Missense OE?0.81 (0.75–0.86)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 2 / 44.6Missense obs/exp: 601 / 745.4Syn Z: -0.60

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BCOR · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Bone Marrow Failure DisordersVEXAS SyndromeHemoglobinurea, Paroxysmal

Molecular and Clinical Analysis of Bone Marrow Failure: A Secondary Research Study

ENROLLING BY INVITATION
NCT07102849National Heart, Lung, and Blood Institute (NHLBI)Started 2025-09-09
B Cell Lymphoma

BCOR and ZC3H12 Genes Knock-out CD19-targeting CAR-T Cell Therapy in r/r B Cell Lymphoma

RECRUITING
NCT07009002Phase PHASE1, PHASE2Chinese PLA General HospitalStarted 2025-06-20
CAR19TIF cellsFludarabineCyclophosphamide
Acute Lymphocytic Leukemia

BCOR and ZC3H12 Genes Knock-out CD19-targeting CAR-T Cell Therapy in r/r B-ALL

RECRUITING
NCT07008885Phase PHASE1, PHASE2Chinese PLA General HospitalStarted 2025-06-20
CAR19TIF cellsFludarabineCyclophosphamide
AstroblastomaBCOR ITD SarcomaCNS Sarcoma

International Rare Brain Tumor Registry

RECRUITING
NCT05697874Children's National Research InstituteStarted 2023-01-01
Chronic Myeloid Leukemia, Chronic PhaseWithdrawal;Drug

Efficacy and Safety of TKIs' Withdrawal After a Two-step Dose Reduction in Patients with Chronic Myeloid Leukemia

ACTIVE NOT RECRUITING
NCT04147533Phase PHASE2Masaryk UniversityStarted 2020-06-16
Imatinib withdrawalDasatinibNilotinib
Congenital CataractTooth AbnormalitiesOcular Pathologies

Associations Between Dental Anomalies and Ocular, Cutaneous and Skin Appendages Features

NOT YET RECRUITING
NCT06950619Phase NAUniversity of PaviaStarted 2026-02
Whole Genome SequencingCephalometric tracing
Wilms TumorRhabdoid TumorMalignant Peripheral Nerve Sheath Tumors

A Study of Selinexor in People With Wilms Tumors and Other Solid Tumors

RECRUITING
NCT05985161Phase PHASE2Memorial Sloan Kettering Cancer CenterStarted 2023-08-01
Selinexor
AMLMDS

Molecular Genetics Guide the Maintenance Therapy After Allogeneic Hematopoietic Stem Cell Transplantation

RECRUITING
NCT06972641Phase PHASE2, PHASE3Ruijin HospitalStarted 2025-06-10
DecitabineSorafenib (BAY-43-9006)，giritinibAvastinib

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients