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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BCL9
BCL9 transcription coactivator
Chromosome 1 · 1q21.2
NCBI Gene: 607Ensembl: ENSG00000116128.12HGNC: HGNC:1008UniProt: O00512
92PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Oncogene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcis-Golgi networkregulation of transforming growth factor beta receptor signaling pathwaybeta-catenin-TCF complexcolorectal adenocarcinomacolon adenocarcinomabreast ductal adenocarcinomalymphoid neoplasm
✦AI Summary

BCL9 (BCL9 transcription coactivator) functions as a critical component of the canonical Wnt/β-catenin signaling pathway, serving as a transcriptional coactivator that enhances β-catenin's transcriptional activity 1. The protein forms part of the β-catenin-TCF complex in the nucleoplasm, where it interacts with various signaling regulators and transcriptional machinery to regulate gene expression 1. BCL9 is frequently involved in oncogenic processes through chr1 rearrangements and copy number alterations. In acute lymphoblastic leukemia, MEF2D-BCL9 fusions represent the most common rearrangement among MEF2D-rearranged cases, resulting in enhanced transcriptional activity and poor clinical outcomes 2. Additionally, BCL9 copy number gains occur recurrently across multiple tumor types and are associated with HCC recurrence, leading to Wnt/β-catenin pathway activation and immune-excluded tumor microenvironments 34. The BCL9/β-catenin protein-protein interaction has emerged as a therapeutic target, with inhibitors showing promise in reversing immunotherapy resistance by modulating macrophage-mediated immune responses 56. These findings establish BCL9 as both a key mediator of Wnt signaling and a potential therapeutic target in cancer treatment.

Sources cited
1
BCL9 is an epigenetic/transcriptional regulator that interacts with β-catenin in canonical Wnt signaling
PMID: 29786110
2
MEF2D-BCL9 is the most common fusion in MEF2D-rearranged ALL cases with enhanced transcriptional activity and poor outcomes
PMID: 27824051
3
BCL9 shows recurrent focal amplifications across tumor types as parallel evolutionary events
PMID: 32879494
4
BCL9 copy number gains are recurrence-specific in HCC, leading to Wnt/β-catenin activation and immune-excluded microenvironments
PMID: 35078970
5
BCL9 targeting reverses immunotherapy resistance through macrophage reprogramming and enhanced antigen presentation
PMID: 41249197
6
β-catenin/BCL9 protein-protein interaction is a promising therapeutic target for blocking Wnt pathway
PMID: 33849283
Disease Associationsⓘ20
colorectal adenocarcinomaOpen Targets
0.41Moderate
colon adenocarcinomaOpen Targets
0.41Moderate
breast ductal adenocarcinomaOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
cutaneous melanomaOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
esophageal adenocarcinomaOpen Targets
0.37Weak
gastric intestinal type adenocarcinomaOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
skin squamous cell carcinomaOpen Targets
0.37Weak
gastric adenocarcinomaOpen Targets
0.31Weak
Parkinson diseaseOpen Targets
0.31Weak
hepatocellular carcinomaOpen Targets
0.31Weak
ovarian neoplasmOpen Targets
0.30Weak
papillary thyroid carcinomaOpen Targets
0.30Weak
placental retentionOpen Targets
0.29Weak
gastric carcinomaOpen Targets
0.28Weak
osteosarcomaOpen Targets
0.28Weak
lung adenocarcinomaOpen Targets
0.28Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CTNNB1Protein interaction100%PYGO2Protein interaction100%HNF4AProtein interaction98%TCF7L2Protein interaction98%TCF4Protein interaction93%TLE1Protein interaction93%
Tissue Expression6 tissues
Ovary
100%
Heart
98%
Brain
98%
Bone Marrow
47%
Lung
42%
Liver
41%
Gene Interaction Network
Click a node to explore
BCL9CTNNB1PYGO2HNF4ATCF7L2TCF4TLE1
PROTEIN STRUCTURE
Preparing viewer…
PDB2VPB · 1.59 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.37Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.27 [0.19–0.37]
RankingsWhere BCL9 stands among ~20K protein-coding genes
  • #5,179of 20,598
    Most Researched92
  • #1,761of 17,882
    Most Constrained (LOEUF)0.37 · top 10%
Genes detectedBCL9
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human Genetics of Ventricular Septal Defect.
PMID: 38884729
Adv Exp Med Biol · 2024
1.00
2
Multi‑layered prevention and treatment of chronic inflammation, organ fibrosis and cancer associated with canonical WNT/β‑catenin signaling activation (Review).
PMID: 29786110
Int J Mol Med · 2018
0.90
3
Genomic analyses identify recurrent MEF2D fusions in acute lymphoblastic leukaemia.
PMID: 27824051
Nat Commun · 2016
0.80
4
Integrative RNA profiling of TBEV-infected neurons and astrocytes reveals potential pathogenic effectors.
PMID: 35685361
Comput Struct Biotechnol J · 2022
0.70
5
Targeting tumor-intrinsic BCL9 reverses immunotherapy resistance by eliciting macrophage-mediated phagocytosis and antigen presentation.
PMID: 41249197
Nat Commun · 2025
0.60