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: | BCL9 |
| Gene Name: | BCL9 |
| Protein Full Name: | B-cell CLL/lymphoma 9 protein |
| Alias: | B-cell CLL/lymphoma 9; B-cell lymphoma 9 protein; Legless homolog; Protein legless homolog |
| Mass (Da): | 149290 |
| Number AA: | 1426 |
| UniProt ID: | O00512 |
| Locus ID: | 607 |
| COSMIC ID: | BCL9 |
| Gene location on chromosome: | 1q21 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20547 |
| Percent of cancer specimens with mutations: | 0.03 |
| Mutations observed as inherited: | NA |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | t(1;14)(q21;q32); t(1;22)(q21;q11) |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | BCL9 is involved in the Wnt signalling pathway and promotes beta-catenin transcriptional activity. A t(1;14)(q21;q32) translocation that affects the 3'-UTR has been associated with precursor B-cell acute lymphoblastic leukemia (ALL), possibly by causing dysregulation of expression. Overexpression of BCL9 has been associated with B-cell malignancies |