BCL9L
BCL9 Like, a key component of the Wnt/β-catenin transcriptional activation complex
Gene Information Card
| Symbol | BCL9L |
|---|---|
| Full Name | BCL9 like |
| Gene Type | protein-coding |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 283248 ncbi.nlm.nih.gov/gene/283248 |
| Ensembl ID | ENSG00000186184 |
| UniProt ID | Q86UU0 |
| OMIM ID | 609000 |
| HGNC ID | 23668 |
| Aliases | B-cell CLL/lymphoma 9-like, BCL9-2, DLNB8 |
Description
BCL9L (BCL9 like) is a protein-coding gene that encodes a transcriptional co-activator essential for canonical Wnt/β-catenin signaling. The BCL9L protein binds directly to β-catenin and facilitates the assembly of the Wnt enhanceosome, promoting the transcription of Wnt target genes involved in cell proliferation, differentiation, and stem cell maintenance. BCL9L is structurally and functionally related to BCL9 and is implicated in several cancers, particularly colorectal cancer, where its overexpression correlates with poor prognosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | BCL9L overexpression enhances β-catenin-mediated transcription, driving tumorigenesis and metastasis | PMID: 21258371 |
| Hepatocellular Carcinoma | BCL9L upregulation promotes Wnt signaling and epithelial-mesenchymal transition | PMID: 25636800 |
| Multiple Myeloma | BCL9L is part of a recurrent t(11;14) translocation, leading to aberrant expression | PMID: 15692071 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 12.5 | Medium |
| Liver | 8.3 | Low |
| Small Intestine | 15.2 | Medium |
| Bone Marrow | 6.1 | Low |
| Lymph Node | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HCT116 (Colorectal) | 18.5 | High expression |
| HepG2 (Liver) | 10.2 | Moderate expression |
| K562 (Leukemia) | 7.4 | Low expression |
| HEK293 (Embryonic Kidney) | 5.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% in COSMIC | Loss of function; truncation of C-terminal domain |
| c.789_790insA (p.Glu264fs) | Frameshift | <0.1% in COSMIC | Loss of function; premature stop codon |
| c.1567G>A (p.Glu523Lys) | Missense | 0.2% in COSMIC | Unknown; predicted benign by SIFT |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, impairing β-catenin binding and transcriptional activation.
Gain of Function (GOF)
Not well characterized; amplification or overexpression is more common than activating mutations.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • transcription coactivator activity | • beta-catenin binding |
| • Wnt signaling pathway | • regulation of transcription |
| • DNA-templated | • nucleus |
Pathways
• Wnt signaling pathway (Reactome: R-HSA-201681)
• TCF dependent signaling in response to WNT (Reactome: R-HSA-201681)
Protein Summary
The BCL9L protein (UniProt Q86UU0) is a 1,399-amino-acid nuclear protein that contains a conserved HD1 domain for β-catenin interaction and a HD2 domain for binding to Pygopus (PYGO) family members. It acts as a scaffold in the Wnt enhanceosome, linking β-catenin to PYGO and other transcription factors. BCL9L is essential for the full transcriptional output of Wnt signaling and is frequently overexpressed in cancers with active Wnt/β-catenin pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BCL9L Knockout HEK293 Cell Line | EDJ-KQ12048 | Human | 283149 | 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 |
