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: | FANCC |
Gene Name: | FANCC |
Protein Full Name: | Fanconi anemia group C protein |
Alias: | FA3; FAC; FACC; Fanconi anemia group C; Fanconi anemia, complementation group C |
Mass (Da): | 63410 |
Number AA: | 558 |
UniProt ID: | Q00597 |
Locus ID: | 2176 |
COSMIC ID: | FANCC |
Gene location on chromosome: | 9q22.3 |
Cancer protein type: | TSP |
Effect of cancer mutation on protein: | LOSS |
Effect of active protein on cancer: | INHIBITS |
Number of cancer specimens: | 19997 |
Percent of cancer specimens with mutations: | 0.41 |
Normal role description: | FANCC is part of the FA complex within the nucleus. Its role involves monoubiquintination of FANCD2 during S phase after DNA damage. It is implicated in DNA repair, cell cycle checkpoints and suppressing interferon-gamma induced apoptosis. Disrupted function in cancer can lead to genomic instability. |