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: | PALB2 |
| Gene Name: | PALB2 |
| Protein Full Name: | Partner and localizer of BRCA2 |
| Mass (Da): | 131295 |
| Number AA: | 1186 |
| UniProt ID: | Q86YC2 |
| Locus ID: | 79728 |
| COSMIC ID: | PALB2 |
| Gene location on chromosome: | 16p12.2 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 20401 |
| Percent of cancer specimens with mutations: | 0.9 |
| Mutations observed as inherited: | Familial pancreatic- and breast cancer; Fanconi anemia complementation group N --> increased susceptibilty of cancer development |
| Normal role description: | PALB2 binds directly to BRCA1 and serves as the molecular scaffold in the formation of the BRCA1-PALB2-BRCA2 complex, and in that way permits the stable intranuclear localization and accumulation of BRCA2, and it may hence function as a tumour suppresser in breast cancer. It also functions in homologous recombination repair via its recruitment of BRCA2 and RAD51 to DNA breaks. Defects in PALB2 have been implicated in Fanconi anemia complementation group N, a disorder affecting the bone marrow, resulting in anemia, leukopenia and thrombopenia with symptoms including cardiac-, renal- and limb malformations, pigmentation changes of the skin, and susceptibility to the formation of malignancies; in pancreatic cancer type 3; and in breast cancer. |
| Commentary on involvement of protein in cancer: | 1/49 skin-, 1/48 pancreatic-, 3/286 lung-, 1/117 kidney-, and 3/219 breast cancer samples were also mutated |