Gene: CASP10

Alternate names for this Gene: ALPS2|FLICE-2|FLICE2|MCH4

Gene Summary: This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 3 and 7, and the protein itself is processed by caspase 8. Mutations in this gene are associated with type IIA autoimmune lymphoproliferative syndrome, non-Hodgkin lymphoma and gastric cancer. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.

Gene is located in Chromosome: 2

Location in Chromosome : 2q33.1

Description of this Gene: caspase 10

Type of Gene: protein-coding

rs17860403 in CASP10 gene and Autoimmune Lymphoproliferative Syndrome, Type IIA PMID 10412980 1999 Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II.

rs3731714 in CASP10 gene and Chronic Lymphocytic Leukemia PMID 31407831 2019 Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes.

rs13006529 in CASP10 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs28936699 in CASP10 gene and Lymphoma, Non-Hodgkin, Familial PMID 12010812 2002 Inactivating mutations of CASP10 gene in non-Hodgkin lymphomas.

rs3731714 in CASP10 gene and Rheumatoid Arthritis PMID 31407831 2019 Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes.

rs3731714 in CASP10 gene and Small Lymphocytic Lymphoma PMID 31407831 2019 Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes.

rs121909776 in CASP10 gene and Stomach Carcinoma PMID 11973654 2002 Inactivating mutations of the caspase-10 gene in gastric cancer.

PMID 23852704 2014 Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor markers 2014 guidelines update.