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: | FANCD2 |
| Gene Name: | FANCD2 |
| Protein Full Name: | Fanconi anemia group D2 protein |
| Alias: | FACD; FACD2; FAD; FA-D2; FANCD; Fanconi anemia complementation group D2 protein; Fanconi anemia, complementation group D2; Isoform 1 |
| Mass (Da): | 166462 |
| Number AA: | 1471 |
| UniProt ID: | Q9BXW9 |
| Locus ID: | 2177 |
| COSMIC ID: | FANCD2 |
| Gene location on chromosome: | 3p25-26 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 19930 |
| Percent of cancer specimens with mutations: | 1.29 |
| Mutations observed as inherited: | Fanconi anemia complementation group D type 2 (FANCD2) --> increased cancer susceptibility |
| Normal role description: | FANCD2 is required to maintain chromosomal stability by promoting accurate pairing of homologs during meiosis and by preventing breakage and loss of missegregating chromatin at the end of cell division. It is involved in repairing DNA double-strand breaks, both by homologous recombination and by single-strand annealing. It may also participate in S phase and G2 phase checkpoint activation after DNA damage, and in B-cell immunoglobulin isotype switching. Defects in the gene play a role in the development of Fanconi anemia complementation group D type 2 (FANCD2), a disorder affecting the bone marrow, resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac-, renal- and limb malformations, pigmental changes of the skin, and a predisposition to developing certain cancers. |
| Commentary on involvement of protein in cancer: | * 1 pharyngeal sample was also mutated out of the 5 total UAT samples (silent mutation). 1/45 (2%) CNS samples was mutated. |