BCL9: B-Cell CLL/Lymphoma 9, a Key Wnt/β-Catenin Coactivator
BCL9 is a transcriptional coactivator essential for Wnt/β-catenin signaling, frequently implicated in hematologic malignancies and solid tumors.
Gene Information Card
| Symbol | BCL9 |
|---|---|
| Full Name | B-cell CLL/lymphoma 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.2 |
| NCBI Gene ID | 607 ncbi.nlm.nih.gov/gene/607 |
| Ensembl ID | ENSG00000116188 |
| UniProt ID | O00512 |
| OMIM ID | 602597 |
| HGNC ID | 1001 |
| Aliases | BCL9L, BCL9-2, LGS, BCL9A |
Description
BCL9 (B-cell CLL/lymphoma 9) encodes a transcriptional coactivator that directly interacts with β-catenin to enhance Wnt/β-catenin signaling. It is essential for embryonic development and is frequently dysregulated in cancers, including B-cell malignancies, colorectal cancer, and breast cancer. BCL9 promotes cell proliferation, migration, and invasion by modulating target gene expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| B-cell chronic lymphocytic leukemia (CLL) | BCL9 is overexpressed and enhances Wnt/β-catenin signaling, promoting leukemogenesis. | ClinVar, COSMIC |
| Colorectal cancer | BCL9 amplifies β-catenin transcriptional activity, driving tumor progression and metastasis. | COSMIC, NCBI Gene |
| Breast cancer | BCL9 overexpression correlates with poor prognosis and increased Wnt target gene activation. | UniProt, OMIM |
| Multiple myeloma | BCL9 is involved in aberrant Wnt signaling, contributing to myeloma cell survival. | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Bone marrow | 10.2 | Medium |
| Colon | 8.7 | Medium |
| Breast | 6.3 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.4 | High expression |
| HCT116 (colorectal carcinoma) | 12.8 | High expression |
| MCF7 (breast cancer) | 9.1 | Medium expression |
| HEK293 (embryonic kidney) | 5.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <1% | Loss of function; truncation of C-terminal domain |
| c.789_790insA (p.Glu264fs) | Frameshift | <1% | Loss of function; premature stop codon |
| c.1567G>A (p.Glu523Lys) | Missense | <1% | Unknown; predicted to affect β-catenin binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, impairing β-catenin coactivation.
Gain of Function (GOF)
Amplifications or overexpression leading to enhanced Wnt signaling; no recurrent activating point mutations reported.
Dominant Negative (DN)
Not described in literature.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt/β-catenin signaling pathway (Reactome: R-HSA-201681)
• TCF-dependent signaling in response to WNT (Reactome: R-HSA-201681)
• Colorectal cancer (KEGG: hsa05210)
Protein Summary
BCL9 is a 1,425-amino acid protein containing a nuclear localization signal and a β-catenin-binding domain. It functions as a scaffold that recruits β-catenin to TCF/LEF transcription factors, thereby activating Wnt target genes. BCL9 also interacts with other coactivators such as Pygo and HDACs, modulating chromatin dynamics. Its overexpression is oncogenic in multiple cancer types.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BCL9 Knockout HEK293 Cell Line | EDJ-KQ3246 | Human | 607 | Details Get a Quote |
| BCL9L Knockout HEK293 Cell Line | EDJ-KQ12048 | Human | 283149 | Details Get a Quote |
| BCL9 Knockout A-549 Cell Line | EDJ-KQ24770 | Human | 607 | Details Get a Quote |
| BCL9 Knockout HCT 116 Cell Line | EDJ-KQ24771 | Human | 607 | Details Get a Quote |
| BCL9 Knockout HeLa Cell Line | EDJ-KQ24772 | Human | 607 | Details Get a Quote |
| BCL9L Knockout A-549 Cell Line | EDJ-KQ40683 | Human | 283149 | Details Get a Quote |
| BCL9L Knockout HCT 116 Cell Line | EDJ-KQ40684 | Human | 283149 | Details Get a Quote |
| BCL9L Knockout HeLa Cell Line | EDJ-KQ40685 | Human | 283149 | Details Get a Quote |
| Bcl9 Knockout Hepa 1-6 Cell Line | EDJ-KZ118 | Mouse | 77578 | Details Get a Quote |
