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: | Btk |
| Gene Name: | BTK |
| Protein Full Name: | Tyrosine-protein kinase BTK |
| Alias: | Agammaglobulinaemia tyrosine kinase; AGMX1; ATK; B cell progenitor kinase; BPK; Bruton agammaglobulinemia tyrosine kinase; EC 2.7.10.2; EMB; IMD1; Kinase Btk; Kinase EMB; PSCTK1; XLA |
| Mass (Da): | 76281 |
| Number AA: | 659 |
| UniProt ID: | Q06187 |
| Locus ID: | 695 |
| COSMIC ID: | BTK |
| Gene location on chromosome: | Xq22.1 |
| Cancer protein type: | OP/TSP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | MIXED |
| Number of cancer specimens: | 20533 |
| Percent of cancer specimens with mutations: | 0.73 |
| Normal role description: | BTK is a cytoplasmic protein-tyrosine kinase, involved in B cell development, differentiation and signalling. It is a downstream target of the B-cell receptor and plays an important role in immune cell related pathways. BTK has a dual function in apoptosis. Not reported to directly interact with DNA. Expression of a truncated BTK variant in leukemia, which mediates phosphorylation and activation of normal BTK by BCR-ABL1. Constitutively activated BTK promotes cell survival. |