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: | TGFBR2 |
| Gene Name: | TGFBR2 |
| Protein Full Name: | TGF-beta receptor type-2 |
| Alias: | EC 2.7.11.30; TGF-beta type II receptor; TGFR2 |
| Mass (Da): | 64568 |
| Number AA: | 567 |
| UniProt ID: | P37173 |
| Locus ID: | 7048 |
| COSMIC ID: | TGFBR2 |
| Gene location on chromosome: | 3p22; 3p24.1 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 21032 |
| Percent of cancer specimens with mutations: | 1.09 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with point mutations, insertions and deletions, but no complex mutations. |
| Mutations observed as inherited: | Lynch syndrome/HNPCC. |
| Gene undergoes hypermethylation: | Colon, gastric and small cell lung carcinomas |
| Normal role description: | TGFBR2 is a receptor protein-serine/threonine kinase which is activated through binding of transforming growth factor-beta (TGF-beta). Two isoforms of TGF-beta receptors exist, TGFBR1 and TGFBR2 which will associate in a heteromeric configuration upon ligand binding. TGFBR2 will activate TGFBR1 through phosphorylation and cause activation of downstream effectors. These receptors are important promoters of apoptosis and generally function as tumour suppressor proteins. Dysfunction of TGFBR2 has been implicated in the development of colorectal and in some cases of esophageal cancer. Most mutations resulted in deletions or truncatations resulting in significantly reduced activity of TGFBR2. In these systems the loss of negative regulation by TGFBR2 of cell proliferation was attributed to cancer development. |
| Commentary on involvement of protein in cancer: | Less than 3% mutations in CNS and lung. |