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: | B3GNT6 |
| Gene Name: | B3GNT6 |
| Protein Full Name: | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltr |
| Alias: | Core 3 synthase |
| Mass (Da): | 42748 |
| Number AA: | 384 |
| UniProt ID: | Q6ZMB0 |
| Locus ID: | 192134 |
| COSMIC ID: | B3GNT6 |
| Gene location on chromosome: | 11q13.4 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 19581 |
| Percent of cancer specimens with mutations: | 0.07 |
| Normal role description: | B3GNT6 is a single-pass type II membrane protein that synthesizes the core 3 structure of the O-glycan, an important precursor in the biosynthesis of mucin-type O-glycans in mucus secreting digestive organs. Loss of core 3 leads to production of secreted mucins with compromised function, resulting in bacteria being inefficiently removed, potentially leading to chronic inflammation, which may in turn promote cancer development in the GI tract. B3GNT6 is therefore considered a tumour suppressor gene in mucus secreting organs. |
| Commentary on involvement of protein in cancer: | 2 % (1/59) of ovary samples were mutated (silent) (Sanger COSMIC) |