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: | PAX9 |
| Gene Name: | PAX9 |
| Protein Full Name: | Paired box protein Pax-9 |
| Alias: | PAX-9 |
| Mass (Da): | 36310 |
| Number AA: | 341 |
| UniProt ID: | P55771 |
| Locus ID: | 5083 |
| COSMIC ID: | PAX9 |
| Gene location on chromosome: | 14q13.3 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 19837 |
| Percent of cancer specimens with mutations: | 0.4 |
| Normal role description: | PAX9 is a transcription factor responsible for regulating the expression of genes responsible for cell proliferation, resistance to apoptosis, and cell migration. It is required for normal development of the thymus, parathyroid glands, ultimobranchial bodies, teeth, skeletal elements of the skull and the larynx, and the distal limbs. Defects/altered expression of the gene have been implicated in tooth agenesis selective type 3, a form of tooth agenesis -an anomaly characterized by the congenital absence of one or more teeth; in Jarcho-Levin syndrome - a segmentation anomaly affecting thoracic and vertebral skeletal development; and in esophageal invasive carcinoma & epithelial dysplasia. |
| Commentary on involvement of protein in cancer: | 1 pharyngeal- (inframe deletion), 1 laryngeal - (mis-sense) and 1/45 CNS tumour samples were also mutated |