BCL10 Chromosome 1
BCL10 immune signaling adaptor
Upload your DNA to see your personal genotypes for variants in BCL10.
What This Gene Does
This gene was identified by its translocation in a case of mucosa-associated lymphoid tissue (MALT) lymphoma. The protein encoded by this gene contains a caspase recruitment domain (CARD), and has been shown to induce apoptosis and to activate NF-kappaB. This protein is reported to interact with other CARD domain containing proteins including CARD9, 10, 11 and 14, which are thought to function as upstream regulators in NF-kappaB signaling. This protein is found to form a complex with MALT1, a protein encoded by another gene known to be translocated in MALT lymphoma. MALT1 and this protein are thought to synergize in the activation of NF-kappaB, and the deregulation of either of them may contribute to the same pathogenetic process that leads to the malignancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Gene Info
Gene Group
"Caspase recruitment domain containing|CBM complex"
Locus Type
gene with protein product
Location
1p22.3
Ensembl
ENSG00000142867
Associated Conditions (10)
MALE GERM CELL TUMOR
SOMATIC
Immunodeficiency 37
Malignant tumor of testis
Mucosa-associated lymphoma
Mesothelioma
T-cell acute lymphoblastic leukemia
Carcinoma of colon
Follicular lymphoma
Sezary syndrome
Key Variants
RS121918314
Pathogenic
MALE GERM CELL TUMOR, SOMATIC, MALE GERM CELL TUMOR
Health Risk
RS1660349948
Pathogenic
Immunodeficiency 37, Immunodeficiency 37
Health Risk
RS2527119870
Pathogenic
Immunodeficiency 37, Immunodeficiency 37
Health Risk
RS370432633
Pathogenic
Malignant tumor of testis, Malignant tumor of testis
Health Risk
RS387906350
Pathogenic
Mucosa-associated lymphoma, Mesothelioma, MALE GERM CELL TUMOR
Health Risk
RS387906351
Pathogenic
T-cell acute lymphoblastic leukemia, Carcinoma of colon, Mesothelioma
Health Risk
RS587776630
Pathogenic
Mucosa-associated lymphoma, Mucosa-associated lymphoma
Health Risk
RS587776631
Pathogenic
Mucosa-associated lymphoma, Mucosa-associated lymphoma
Health Risk
RS587776632
Pathogenic
Follicular lymphoma, Sezary syndrome, Follicular lymphoma
Health Risk
RS587776633
Pathogenic
Follicular lymphoma, Follicular lymphoma
Health Risk
RS587776634
Pathogenic
Follicular lymphoma, Follicular lymphoma
Health Risk
RS587776635
Pathogenic
Follicular lymphoma, Follicular lymphoma
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121918314 | Health Risk | Pathogenic | MALE GERM CELL TUMOR, SOMATIC, MALE GERM CELL TUMOR |
| RS1660349948 | Health Risk | Pathogenic | Immunodeficiency 37, Immunodeficiency 37 |
| RS2527119870 | Health Risk | Pathogenic | Immunodeficiency 37, Immunodeficiency 37 |
| RS370432633 | Health Risk | Pathogenic | Malignant tumor of testis, Malignant tumor of testis |
| RS387906350 | Health Risk | Pathogenic | Mucosa-associated lymphoma, Mesothelioma, MALE GERM CELL TUMOR |
| RS387906351 | Health Risk | Pathogenic | T-cell acute lymphoblastic leukemia, Carcinoma of colon, Mesothelioma |
| RS587776630 | Health Risk | Pathogenic | Mucosa-associated lymphoma, Mucosa-associated lymphoma |
| RS587776631 | Health Risk | Pathogenic | Mucosa-associated lymphoma, Mucosa-associated lymphoma |
| RS587776632 | Health Risk | Pathogenic | Follicular lymphoma, Sezary syndrome, Follicular lymphoma |
| RS587776633 | Health Risk | Pathogenic | Follicular lymphoma, Follicular lymphoma |
| RS587776634 | Health Risk | Pathogenic | Follicular lymphoma, Follicular lymphoma |
| RS587776635 | Health Risk | Pathogenic | Follicular lymphoma, Follicular lymphoma |
| RS587776636 | Health Risk | Pathogenic | Follicular lymphoma, Follicular lymphoma |
| RS587776637 | Health Risk | Pathogenic | Follicular lymphoma, Follicular lymphoma |
| RS606231305 | Health Risk | Pathogenic | Immunodeficiency 37, Immunodeficiency 37 |