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: | MUC16 |
Gene Name: | MUC16 |
Protein Full Name: | Mucin-16 |
Alias: | CA125; CA-125; FLJ14303; MUC-16; Mucin 16, cell surface associated; Ovarian cancer-related tumor marker CA125; Ovarian carcinoma antigen CA125 |
Mass (Da): | 2353428 |
Number AA: | 22152 |
UniProt ID: | Q8WXI7 |
Locus ID: | 94025 |
COSMIC ID: | MUC16 |
Gene location on chromosome: | 19p13.2 |
Cancer protein type: | OP |
Effect of cancer mutation on protein: | GAIN |
Effect of active protein on cancer: | PROMOTES |
Number of cancer specimens: | 19536 |
Percent of cancer specimens with mutations: | 10.81 |
General distribution of mutations: | Multi-site |
Location of most mutations: | Broad distribution of mutation sites with many point mutations, 1 insertion and 1 deletion over entire protein length. |
Normal role description: | MUC16 is a type of mucin -- a protein that provides lubrication to mucosal membranes of the body -- with expression predominantly found in ocular epithelium (i.e., cornal and conjunctival epithelium). Overexpression of this protein is associated with ove r80% of ovarian tumors, with expression negatively correlating with prognosis. The mechanism of MUC16's pro-oncogenesis role has yet to be elucidated. |