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: | BCL11A |
| Gene Name: | BCL11A |
| Protein Full Name: | B-cell lymphoma/leukemia 11A |
| Alias: | BC11A; B-cell CLL/lymphoma 11A; BCL11A; BCL11A-L; BCL11A-S; BCL11A-XL; COUP-TF-interacting protein 1; CTIP1; Ecotropic viral integration site 9 protein homolog; EVI9; FLJ10173; HBFQTL5; KIAA1809; ZNF856 |
| Mass (Da): | 91197 |
| Number AA: | 835 |
| UniProt ID: | Q9H165 |
| Locus ID: | 53335 |
| COSMIC ID: | BCL11A |
| Gene location on chromosome: | 2p16.1 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20494 |
| Percent of cancer specimens with mutations: | 1.21 |
| Mutations observed as inherited: | NA |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | t(2;14)(p13;q32.3) |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | BCL11A functions as a myeloid and B-cell proto-oncogene and promotes leukemogenesis and hematopoiesis. It may also depress ARP1 and promote transcription of ARP1-associated genes. T(2;14)(p13;q32.3) translocation causes BCL11A deregulation and amplification, leading to lymphoid malignancies. A S142F mutation has been associated with a breast cancer sample |