Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | CASP8 |
| Gene Name: | CASP8 |
| Protein Full Name: | Caspase-8 |
| Alias: | Apoptotic cysteine protease; Apoptotic protease Mch-5; CAP4; Casp-8; Caspase 8, apoptosis-related cysteine peptidase; FADD-homologous ICE/CED-3- like protease; FADD-homologous ICE/CED-3-like protease; FADD-like ICE; FLICE; ICE8; ICE-like apoptotic protease 5; MACH; MCH5; MORT1-associated CED-3 homolog |
| Mass (Da): | 55391 |
| Number AA: | 479 |
| UniProt ID: | Q14790 |
| Locus ID: | 841 |
| COSMIC ID: | CASP8 |
| Gene location on chromosome: | 2q33.1 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBIT |
| Number of cancer specimens: | 21721 |
| Percent of cancer specimens with mutations: | 1.19 |
| Mutations observed as inherited: | NA |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | NA |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | Neuroblastomas, small-cell lung cancers (SCLC). |
| Normal role description: | CASP8 is a cell death-related protease that promotes apotosis following activation by apoptotic stimuli such as Fas. A specific missense mutation, D285H, has been associated with protection against breast cancer and cutaneous melanoma, possibly by increased apoptotic activity, while a six nucleotide insertion/deletion polymorphism has been associated with an increased susceptibility to multiple cancers, likely by decreased apoptotic activity. Overexpression of CASP8 in transfected breast cancer cells resulted in apoptosis. In neuroblastoma cells, it appears that CASP8 status does not predict primary tumour growth, but only mediates integrin-related cell death where metastasizing cells in the stromal environment undergo CASP8-mediated apoptosis. Therefore, CASP8 is may be more accurately described as a metastasis suppressor gene. |