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: | PAX3 |
| Gene Name: | PAX3 |
| Protein Full Name: | Paired box protein Pax-3 |
| Alias: | CDHS; HUP2; Paired box gene 3; Paired box Pax-3; WS1 |
| Mass (Da): | 52968 |
| Number AA: | 479 |
| UniProt ID: | P23760 |
| Locus ID: | 5077 |
| COSMIC ID: | PAX3 |
| Gene location on chromosome: | 2q35-2q36.1 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 21520 |
| Percent of cancer specimens with mutations: | 0.62 |
| Deregulated in translocations: | Alveolar rhabdomyosarcoma. Fusion partners include FKHR, FOXO1 (380), NCOA1 (4) and NCOA2 (2) |
| Normal role description: | Development of early neural structures, derivatives of neural crest and skeletal musculature. |