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: | Pax6 |
| Gene Name: | PAX6 |
| Protein Full Name: | Paired box protein Pax-6 |
| Alias: | AN2; Aniridia type II protein; Oculorhombin |
| Mass (Da): | 46683 |
| Number AA: | 422 |
| UniProt ID: | P26367 |
| Locus ID: | 5080 |
| COSMIC ID: | PAX6 |
| Gene location on chromosome: | 11p13 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 20149 |
| Percent of cancer specimens with mutations: | 0.63 |
| Normal role description: | Pax6 (paired box 6) is a transcription factor that plays an essential role in the development of the nervous system and pacrease. Hypermethylation of Pax6 promoters has been observed in colon and bladder cancer, which tends to have a inhibitory effect on trancription. This is consistent with the known downregulation of Pax6 in some pacreatic cancers. Mutations in this gene have also been found in badder, brain, ovarian, lung, and skin tumors. |