BCL10: B-Cell CLL/Lymphoma 10 - Apoptosis Regulator and NF-κB Activator
A key adaptor protein in the CARD11-BCL10-MALT1 (CBM) complex, linking antigen receptor signaling to NF-κB activation and implicated in MALT lymphoma and other immune disorders.
Gene Information Card
| Symbol | BCL10 |
|---|---|
| Full Name | B-cell CLL/lymphoma 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p22.3 |
| NCBI Gene ID | 8915 ncbi.nlm.nih.gov/gene/8915 |
| Ensembl ID | ENSG00000142867 |
| UniProt ID | O95999 |
| OMIM ID | 603517 |
| HGNC ID | 989 |
| Aliases | CLAP, CIPER, mE10, CARMEN |
Description
BCL10 (B-cell CLL/lymphoma 10) is a protein-coding gene that encodes a scaffold/adaptor protein containing an N-terminal caspase recruitment domain (CARD) and a C-terminal serine/threonine-rich region. It is a core component of the CARD11-BCL10-MALT1 (CBM) complex, which is essential for antigen receptor-mediated NF-κB activation in lymphocytes. BCL10 also plays roles in apoptosis regulation, innate immunity, and lymphocyte development. Mutations and translocations involving BCL10 are associated with mucosa-associated lymphoid tissue (MALT) lymphoma and certain primary immunodeficiencies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mucosa-associated lymphoid tissue (MALT) lymphoma | t(1;14)(p22;q32) translocation fuses BCL10 to the immunoglobulin heavy chain locus, leading to BCL10 overexpression and constitutive NF-κB activation, promoting B-cell survival and proliferation. | OMIM #603517; NCBI Gene; COSMIC |
| Combined immunodeficiency (CID) | Biallelic loss-of-function mutations in BCL10 impair CBM complex assembly and NF-κB signaling, resulting in defective lymphocyte activation and recurrent infections. | OMIM #603517; ClinVar; NCBI Gene |
| Diffuse large B-cell lymphoma (DLBCL) | BCL10 overexpression or aberrant cytoplasmic/nuclear localization is observed in a subset of DLBCL, correlating with activated B-cell (ABC) subtype and poor prognosis. | NCBI Gene; COSMIC |
| Helicobacter pylori-associated gastritis and MALT lymphoma | Chronic H. pylori infection drives BCL10 expression and CBM complex activation, contributing to lymphoid proliferation and lymphoma development. | OMIM #603517; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 18.5 | High |
| Spleen | 15.2 | High |
| Bone marrow | 12.8 | High |
| Tonsil | 14.1 | High |
| Thymus | 10.3 | Medium |
| Lung | 6.7 | Low |
| Small intestine | 5.4 | Low |
| Colon | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Raji (Burkitt lymphoma) | 22.3 | B-cell line; high expression |
| Jurkat (T-cell leukemia) | 18.7 | T-cell line; high expression |
| HEK293 (embryonic kidney) | 8.1 | Moderate expression |
| HeLa (cervical carcinoma) | 6.5 | Low expression |
| K562 (chronic myeloid leukemia) | 4.2 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.310C>T (p.Arg104*) | Nonsense | Rare | Loss-of-function; truncation of CARD domain; associated with combined immunodeficiency |
| c.493_494del (p.Gln165Valfs*2) | Frameshift deletion | Rare | Loss-of-function; premature stop; impaired NF-κB activation |
| t(1;14)(p22;q32) | Chromosomal translocation | ~5% of MALT lymphomas | Gain-of-function; BCL10 overexpression; constitutive NF-κB signaling |
| c.611G>A (p.Arg204Gln) | Missense | Rare | Uncertain significance; reported in lymphoma; may alter protein stability |
Mutation functional classification
Loss of Function (LOF)
Biallelic truncating or frameshift mutations (e.g., p.Arg104*, p.Gln165Valfs*2) abolish CARD domain or full-length protein, disrupting CBM complex assembly and NF-κB activation, leading to combined immunodeficiency.
Gain of Function (GOF)
t(1;14)(p22;q32) translocation causes BCL10 overexpression, driving constitutive NF-κB activation and promoting B-cell lymphoma (MALT lymphoma).
Dominant Negative (DN)
Some missense mutations in the CARD domain may produce a protein that interferes with wild-type BCL10 function, but well-characterized dominant-negative variants are not commonly reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NF-kappa B signaling pathway (KEGG: hsa04064)
• CARD11-BCL10-MALT1 (CBM) complex signaling (Reactome: R-HSA-1169091)
• T cell receptor signaling pathway (KEGG: hsa04660)
• B cell receptor signaling pathway (KEGG: hsa04662)
• Toll-like receptor signaling pathway (KEGG: hsa04620)
• NOD-like receptor signaling pathway (KEGG: hsa04621)
Protein Summary
The BCL10 protein (UniProt O95999) is a 233-amino-acid scaffold/adaptor with an N-terminal CARD domain (residues 1–97) and a C-terminal region rich in serine/threonine residues (residues 98–233). The CARD domain mediates homotypic interactions with CARD11 and MALT1 to form the CBM complex. Upon antigen receptor engagement, BCL10 undergoes phosphorylation and ubiquitination, facilitating IKK complex recruitment and NF-κB activation. BCL10 also shuttles between cytoplasm and nucleus, and its overexpression or aberrant localization is linked to lymphomagenesis. The protein is expressed predominantly in lymphoid tissues and is essential for lymphocyte survival and immune responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BCL10 Knockout HEK293 Cell Line | EDJ-KQ50830 | Human | 8915 | Details Get a Quote |
| BCL10 Knockout HeLa Cell Line | EDJ-KQ55035 | Human | 8915 | Details Get a Quote |
| BCL10 Knockout A-549 Cell Line | EDJ-KQ63519 | Human | 8915 | Details Get a Quote |
| BCL10 Knockout HCT 116 Cell Line | EDJ-KQ71986 | Human | 8915 | Details Get a Quote |
