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: | MUC6 |
Gene Name: | MUC6 |
Protein Full Name: | Mucin-6 |
Alias: | Gastric mucin-6 |
Mass (Da): | 252165 |
Number AA: | 2392 |
UniProt ID: | Q6W4X9 |
Locus ID: | 4588 |
COSMIC ID: | MUC6 |
Gene location on chromosome: | 11p15.5 |
Cancer protein type: | UNCLEAR |
Effect of cancer mutation on protein: | UNCLEAR |
Effect of active protein on cancer: | MIXED |
Number of cancer specimens: | 19576 |
Percent of cancer specimens with mutations: | 1.99 |
General distribution of mutations: | Multi-site |
Location of most mutations: | Point mutations are spread oout in last two thirds of the protein and a single insertion occures near the end of the protein. |
Normal role description: | MUC6 is a secreted glycoprotein which lines the gastrointestinal surface and functions as a protective barrier to hydrochloric acid, proteases and pathogens. Aberrant expression of MUC6 has been implicated various cancers. In particular, decreased expression of MUC6 has been detected in gastric cancer cell lines. MUC6 expression in other malignancies appears to vary considerably with decreased expression correlating with increased cancer development in tissues outside of the gastrointestinal tract. Mutations in the MS5 promoter region of MUC6 may contribute to variation of gene expression in cancers. |