BCL10 Gene

The BCL10 gene (BCL10 stands for "BCL10 Immune Signaling Adaptor") is a protein-coding gene located on chromosome 1p22.3. The BCL10 gene was primarily identified by its translocation in mucosa-associated lymphoid tissue (MALT) lymphomas. Alternative splicing results in multiple transcript variants.

The protein encoded by this gene plays a key role in both adaptive and innate immune signaling. The BCL10 Immune Signaling Adaptor, interacts with other CARD domain-containing proteins. It is effective by channeling adaptive and innate immune signals downstream of the CARD domain-containing proteins CARD9, CARD11 and CARD14 to activate NF-kappa-B and MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14), which stimulate the expression of genes encoding pro-inflammatory cytokines and chemokines (Ruland J et al. 2001).

The protein forms a complex with the MALT1 protein, which is known to be translocated in MALT lymphomas. Here, the MALT1 protein and the BCL10 Immune Signaling Adaptor act synergistically in the activation of NF-kappaB. Deregulation of either protein may contribute to the same pathogenetic principle that ultimately leads to malignancy.

Diseases associated with BCL10 include:

• marginal zone lymphoma ( mucosa-associated lymphoid type) (Xue L et al. 2003)
• and
• immunodeficiency 37 (Torres JM 2014)

1. Goel S et al (2022) CARD9 Expression Pattern, Gene Dosage, and Immunodeficiency Phenotype Revisited. J Clin Immunol 42:336-349.
2. Torres JM (2014) Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity. J Clin Invest 124:5239-5248.
3. Ruland J et al (2001) Bcl10 is a positive regulator of antigen receptor-induced activation of NF-kappa-B and neural tube closure. Cell 104: 33-42.
4. Xue L et al (2003) Defective development and function of Bcl10-deficient follicular, marginal zone and B1 B cells. Nature Immun 4: 857-865.