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: | PDGFB |
| Gene Name: | PDGFB |
| Protein Full Name: | Platelet-derived growth factor subunit B |
| Alias: | PDGF-2;Platelet-derived growth factor B chain;Platelet-derived growth factor beta polypeptide;Proto-oncogene c-Sis |
| Mass (Da): | 27283 |
| Number AA: | 241 |
| UniProt ID: | P01127; A9UJP0; A9UJN9; Q6LBZ0; Q9UE56; Q9UE57; |
| Locus ID: | 5155 |
| COSMIC ID: | PDGFB |
| Gene location on chromosome: | 22q12.3-q13.1 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20545 |
| Percent of cancer specimens with mutations: | 0.31 |
| Deregulated in translocations: | Translocation t(17;22)(q22;q13) --> COL1A1/PDGFB fusion protein in fibrosarcomas (65%) (215/330) |
| Transduced into viral genome: | Simian sarcoma virus - Whoolly monkey |
| Normal role description: | PDGFB is a mitogenic factor for mesenchymal cells and can exist either as a homodimer or as a heterodimer with PDGFA. It plays an important role in the regulation of embryonic development, cell proliferation,migration, survival and chemotaxis and is required for normal proliferation and recruitment of pericytes and vascular smooth muscle cells in the CNS, skin, lung, heart and placenta; and for normal blood vessel and kidney glomeruli development. Translocation of the gene with COL1A1 is associated with dermatofibrosarcoma protuberans resulting from unregulated expression of growth factor. Mutations in the gene have also been implicated in meningioma |