BCL10 Chromosome 1

BCL10 immune signaling adaptor
15 variants 15 Health Risk

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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
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
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