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: | PAX5 |
| Gene Name: | PAX5 |
| Protein Full Name: | Paired box protein Pax-5 |
| Alias: | B-cell-specific transcription factor; BSAP; Paired box gene 5 (B-cell lineage specific activator protein) |
| Mass (Da): | 42149 |
| Number AA: | 391 |
| UniProt ID: | Q02548 |
| Locus ID: | 5079 |
| COSMIC ID: | PAX5 |
| Gene location on chromosome: | 9p13 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 21853 |
| Percent of cancer specimens with mutations: | 1.25 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with point mutations, complex mutations and insertions, but no deletions, over entire protein length. |
| Commonly recorded point mutations: | P80R (19) |
| Deregulated in translocations: | t(9;14)(p13;q23): PAX5 - IGH; fusion with JAK2 (9p24) and several others |
| Normal role description: | Expression required during early B cell development and B cell lineage maintenance. Involved in regulation of the CD19 gene, a B-lymphoid-specific target gene. May be important in neural development and spermatogenesis. |