BCL6 Gene: B-Cell Lymphoma 6 Transcriptional Repressor
Master regulator of B-cell development and lymphomagenesis
Gene Information Card
| Symbol | BCL6 |
|---|---|
| Full Name | B-cell CLL/lymphoma 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q27.3 |
| NCBI Gene ID | 604 ncbi.nlm.nih.gov/gene/604 |
| Ensembl ID | ENSG00000113916 |
| UniProt ID | P41182 |
| OMIM ID | 109565 |
| HGNC ID | 1001 |
| Aliases | BCL5A, LAZ3, ZBTB27, ZNF51 |
Description
The BCL6 gene encodes a zinc-finger transcription factor that acts as a sequence-specific transcriptional repressor. It is essential for the formation of germinal centers in secondary lymphoid organs, where it regulates B-cell differentiation and antibody affinity maturation. BCL6 is frequently deregulated in B-cell lymphomas, particularly diffuse large B-cell lymphoma (DLBCL), through chromosomal translocations, somatic hypermutation, and dysregulated expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diffuse large B-cell lymphoma | Chromosomal translocations involving 3q27 juxtapose BCL6 to heterologous promoters, leading to constitutive overexpression. Somatic hypermutation in the 5' regulatory region can also deregulate expression. | COSMIC, ClinVar |
| Follicular lymphoma | Translocations t(3;14)(q27;q32) or variants cause BCL6 overexpression, contributing to lymphomagenesis. | COSMIC, NCBI |
| Burkitt lymphoma | Rarely, BCL6 translocations are observed, but BCL6 expression is often high due to germinal center origin. | COSMIC |
| Primary mediastinal B-cell lymphoma | BCL6 rearrangements and expression are common, though less frequent than in DLBCL. | COSMIC |
| Nodular lymphocyte-predominant Hodgkin lymphoma | BCL6 is expressed in the neoplastic lymphocyte-predominant cells, but no specific mutations are defined. | UniProt, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | High | High |
| Spleen | High | High |
| Tonsil | High | High |
| Bone marrow | Medium | Medium |
| Peripheral blood | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Ramos (Burkitt lymphoma) | High | Germinal center B-cell line |
| Daudi (Burkitt lymphoma) | High | Germinal center B-cell line |
| SU-DHL-4 (DLBCL) | High | GCB subtype |
| OCI-LY1 (DLBCL) | High | GCB subtype |
| K562 (CML) | Low | Non-B-cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1-? (5' UTR mutations) | Somatic hypermutation | ~30-40% of DLBCL | Disrupts autoregulatory feedback, leading to overexpression |
| t(3;14)(q27;q32) | Chromosomal translocation | ~10-15% of DLBCL | Places BCL6 under IgH enhancer, causing constitutive expression |
| Missense mutations in BTB domain | Point mutation | Rare (<5%) | May affect protein-protein interactions or stability |
| Deletions in 5' regulatory region | Deletion | ~10% of DLBCL | Loss of negative regulatory elements, increasing expression |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations are rare and typically not observed in lymphomas; BCL6 is generally overexpressed rather than inactivated.
Gain of Function (GOF)
Gain-of-function mutations or translocations that increase BCL6 expression are common, promoting survival of germinal center B-cells and blocking differentiation.
Dominant Negative (DN)
Dominant-negative mutations have not been well characterized for BCL6; most alterations are regulatory or overexpression events.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • Protein homodimerization activity | • Chromatin binding |
| • Negative regulation of transcription by RNA polymerase II | • Germinal center formation |
| • B cell differentiation | • Somatic hypermutation of immunoglobulin genes |
Pathways
• Germinal center reaction
• B cell receptor signaling
• p53 signaling pathway
• Cell cycle regulation
Protein Summary
BCL6 is a 706-amino acid protein containing an N-terminal BTB/POZ domain, a central region with PEST sequences, and C-terminal zinc-finger motifs. It functions as a transcriptional repressor by recruiting co-repressors such as NCOR1, SMRT, and BCOR. BCL6 is critical for germinal center formation and regulates genes involved in B-cell activation, differentiation, and apoptosis. Its overexpression in lymphomas blocks terminal differentiation and promotes cell survival.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BCL6 Knockout HEK293 Cell Line | EDJ-KQ1540 | Human | 604 | Details Get a Quote |
| BCL6B Knockout HEK293 Cell Line | EDJ-KQ11054 | Human | 255877 | Details Get a Quote |
| BCL6 Knockout A-549 Cell Line | EDJ-KQ21203 | Human | 604 | Details Get a Quote |
| BCL6 Knockout HCT 116 Cell Line | EDJ-KQ21204 | Human | 604 | Details Get a Quote |
| BCL6 Knockout HeLa Cell Line | EDJ-KQ21205 | Human | 604 | Details Get a Quote |
| BCL6B Knockout HeLa Cell Line | EDJ-KQ59288 | Human | 255877 | Details Get a Quote |
| BCL6B Knockout A-549 Cell Line | EDJ-KQ67755 | Human | 255877 | Details Get a Quote |
| BCL6B Knockout HCT 116 Cell Line | EDJ-KQ76139 | Human | 255877 | Details Get a Quote |
| BCL6 (p.S512R) Point Mutation in HAP1 Cell Line | EDC03407 | Human | 604 | Details Get a Quote |
| BCL6 (c.-10-218G>A )Point Mutation in HAP1 Cell Line | EDC03408 | Human | 604 | Details Get a Quote |
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