HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BCL10
BCL10 immune signaling adaptor
Chromosome 1 Β· 1p22.3
NCBI Gene: 8915Ensembl: ENSG00000142867.14HGNC: HGNC:989UniProt: A0A087WWW9
206PubMed Papers
22Diseases
0Drugs
20Pathogenic Variants
FUNCTIONAL ROLE
Tumor Suppressor
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of extrinsic apoptotic signaling pathwaypositive regulation of apoptotic processpositive regulation of canonical NF-kappaB signal transductioninnate immune responseimmunodeficiency 37MALT lymphomaTesticular Germ Cell Tumorfollicular lymphoma
✦AI Summary

BCL10 is a critical immune signaling adaptor that bridges activated CARD domain-containing proteins (CARD9, CARD11, and CARD14) to downstream inflammatory pathways 1. Upon CARD protein activation, BCL10 undergoes polymerization and recruits MALT1 to form the CBM (CARD-BCL10-MALT1) signaling complex 1. This complex activates NF-ΞΊB and MAP kinase p38 pathways, driving expression of pro-inflammatory cytokines and chemokines essential for both adaptive and innate immunity 12. BCL10 functions downstream of T-cell receptors, B-cell receptors, and C-type lectin receptors, with CARD9-BCL10 signaling being particularly important for antifungal immunity 3. BCL10 regulation involves post-translational modifications including ubiquitination and phosphorylation, which control CBM assembly and function 4. Germline BCL10 mutations cause combined immunodeficiency requiring bone marrow transplantation 5, while deregulated CBM signaling contributes to autoimmunity, inflammation, and lymphomagenesis 67. Recent studies demonstrate BCL10's expanding roles in controlling antiviral responses through MAVS regulation 8 and its potential therapeutic application in engineered T cell therapies 9.

Sources cited
1
BCL10 bridges CARD proteins to NF-ΞΊB and MAP kinase p38 activation via CBM complex formation
PMID: 24074955
2
CBM complex leads to NF-ΞΊB and MAP kinase p38 pathway activation for pro-inflammatory gene expression
PMID: 18287044
3
CARD9-BCL10 signaling is essential for antifungal immunity
PMID: 26488816
4
BCL10 ubiquitination and phosphorylation regulate CBM complex function in T cell signaling
PMID: 30514565
5
Inherited BCL10 deficiency causes combined immunodeficiency requiring bone marrow transplantation
PMID: 38129623
6
Deregulated CBM signaling contributes to autoimmunity, inflammation, and lymphomagenesis
PMID: 27420898
7
Germline BCM-opathies including BCL10 mutations cause immunodeficiency to atopy spectrum
PMID: 31060714
8
BCL10 is essential for MAVS-induced IRF3 activation in antiviral responses
PMID: 40489607
9
CARD11-BCL10-MALT1 complex signaling can be enhanced for improved T cell therapies
PMID: 38326614
Disease Associationsβ“˜22
immunodeficiency 37Open Targets
0.65Moderate
MALT lymphomaOpen Targets
0.56Moderate
Testicular Germ Cell TumorOpen Targets
0.50Moderate
follicular lymphomaOpen Targets
0.50Moderate
diffuse large B-cell lymphomaOpen Targets
0.46Moderate
mesotheliomaOpen Targets
0.42Moderate
multiple sclerosisOpen Targets
0.40Moderate
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
lung carcinomaOpen Targets
0.37Weak
colon carcinomaOpen Targets
0.33Weak
Sezary's diseaseOpen Targets
0.33Weak
T-cell acute lymphoblastic leukemiaOpen Targets
0.33Weak
hepatocellular carcinomaOpen Targets
0.29Weak
chronic lymphocytic leukemiaOpen Targets
0.28Weak
pancreatic ductal adenocarcinomaOpen Targets
0.28Weak
B-cell non-Hodgkins lymphomaOpen Targets
0.28Weak
multiple myelomaOpen Targets
0.28Weak
small cell lung carcinomaOpen Targets
0.28Weak
non-small cell lung carcinomaOpen Targets
0.28Weak
lymphoid neoplasmOpen Targets
0.28Weak
Immunodeficiency 37UniProt
Lymphoma, mucosa-associated lymphoid typeUniProt
Pathogenic Variants20
NM_003921.5(BCL10):c.262C>T (p.Arg88Ter)Pathogenic
Immunodeficiency 37
β˜…β˜†β˜†β˜†2025β†’ Residue 88
NM_003921.5(BCL10):c.207dup (p.Asp70fs)Pathogenic
Immunodeficiency 37
β˜…β˜†β˜†β˜†2024β†’ Residue 70
NM_003921.5(BCL10):c.172C>T (p.Arg58Ter)Pathogenic
MALE GERM CELL TUMOR, SOMATIC|Immunodeficiency 37
β˜…β˜†β˜†β˜†2023β†’ Residue 58
NM_003921.5(BCL10):c.217C>T (p.Gln73Ter)Pathogenic
Immunodeficiency 37
β˜…β˜†β˜†β˜†2022β†’ Residue 73
NM_003921.5(BCL10):c.14dup (p.Pro6fs)Pathogenic
Immunodeficiency 37
β˜…β˜†β˜†β˜†2022β†’ Residue 6
NM_003921.5(BCL10):c.57+1G>APathogenic
Immunodeficiency 37
β˜†β˜†β˜†β˜†2014
NM_003921.5(BCL10):c.488C>T (p.Thr163Met)Pathogenic
Malignant tumor of testis
β˜†β˜†β˜†β˜†1999β†’ Residue 163
NM_003921.5(BCL10):c.499dup (p.Ser167fs)Pathogenic
Mucosa-associated lymphoma|Mesothelioma|MALE GERM CELL TUMOR, SOMATIC
β˜†β˜†β˜†β˜†1999β†’ Residue 167
NM_003921.5(BCL10):c.629AAG[2] (p.Glu212del)Pathogenic
Follicular lymphoma
β˜†β˜†β˜†β˜†1999β†’ Residue 212
NM_003921.5(BCL10):c.136dup (p.Ile46fs)Pathogenic
T-cell acute lymphoblastic leukemia|Carcinoma of colon
β˜†β˜†β˜†β˜†1999β†’ Residue 46
NM_003921.5(BCL10):c.428del (p.Phe143fs)Pathogenic
Sezary syndrome
β˜†β˜†β˜†β˜†1999β†’ Residue 143
NM_003921.5(BCL10):c.136del (p.Ile46fs)Pathogenic
Mesothelioma
β˜†β˜†β˜†β˜†1999β†’ Residue 46
NM_003921.5(BCL10):c.172C>G (p.Arg58Gly)Pathogenic
MALE GERM CELL TUMOR, SOMATIC
β˜†β˜†β˜†β˜†1999β†’ Residue 58
NM_003921.5(BCL10):c.398dup (p.Ser134fs)Pathogenic
Follicular lymphoma
β˜†β˜†β˜†β˜†1999β†’ Residue 134
NM_003921.5(BCL10):c.410del (p.Asn137fs)Pathogenic
Follicular lymphoma
β˜†β˜†β˜†β˜†1999β†’ Residue 137
NM_003921.5(BCL10):c.525_541del (p.Val176fs)Pathogenic
Follicular lymphoma
β˜†β˜†β˜†β˜†1999β†’ Residue 176
NM_003921.5(BCL10):c.231dup (p.Gly78fs)Pathogenic
Follicular lymphoma
β˜†β˜†β˜†β˜†1999β†’ Residue 78
NM_003921.5(BCL10):c.427_428dup (p.Glu145fs)Pathogenic
Follicular lymphoma
β˜†β˜†β˜†β˜†1999β†’ Residue 145
NM_003921.5(BCL10):c.345del (p.Gly116fs)Pathogenic
Mucosa-associated lymphoma
β˜†β˜†β˜†β˜†1999β†’ Residue 116
NM_003921.5(BCL10):c.163dup (p.Ile55fs)Pathogenic
Mucosa-associated lymphoma
β˜†β˜†β˜†β˜†1999β†’ Residue 55
View on ClinVar β†—
Related Genes
FYB1Protein interaction100%MAPK14Protein interaction100%RPS27AProtein interaction99%BCL2Protein interaction97%CARD10Protein interaction95%MAPK3Protein interaction94%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
24%
Liver
18%
Heart
16%
Brain
16%
Ovary
13%
Gene Interaction Network
Click a node to explore
BCL10FYB1MAPK14RPS27ABCL2CARD10MAPK3
PROTEIN STRUCTURE
Preparing viewer…
PDB6BZE Β· 4.00 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.64LoF Tolerant
pLIβ“˜
0.73Intermediate
Observed/Expected LoF0.34 [0.19–0.64]
RankingsWhere BCL10 stands among ~20K protein-coding genes
  • #2,022of 20,598
    Most Researched206 Β· top 10%
  • #2,181of 5,498
    Most Pathogenic Variants20
  • #4,533of 17,882
    Most Constrained (LOEUF)0.64
Genes detectedBCL10
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Naturally occurring T cell mutations enhance engineered T cell therapies.
PMID: 38326614
Nature Β· 2024
1.00
2
A small-molecule inhibitor of BCL10-MALT1 interaction abrogates progression of diffuse large B cell lymphoma.
PMID: 40231473
J Clin Invest Β· 2025
0.92
3
Inherited Human BCL10 Deficiencies.
PMID: 38129623
J Clin Immunol Β· 2023
0.90
4
Role of Calcium Signaling Pathway-Related Gene Regulatory Networks in Ischemic Stroke Based on Multiple WGCNA and Single-Cell Analysis.
PMID: 34987704
Oxid Med Cell Longev Β· 2021
0.80
5
MALT1 substrate cleavage: what is it good for?
PMID: 38863711
Front Immunol Β· 2024
0.76