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: | ITK |
| Gene Name: | ITK |
| Protein Full Name: | Tyrosine-protein kinase ITK/TSK |
| Alias: | EC 2.7.10.2; EMT; Lyk; TLK; TSK |
| Mass (Da): | 71831 |
| Number AA: | 620 |
| UniProt ID: | Q08881 |
| Locus ID: | 3702 |
| COSMIC ID: | ITK |
| Gene location on chromosome: | 5q33.3 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20756 |
| Percent of cancer specimens with mutations: | 0.97 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with many point mutations across entire protein, but no complex mutations, insertions or deletions. |
| Deregulated in translocations: | t(5;9)(q33;q22); peripheral T-cell lymphoma; N-terminal pleckstrin homology domain and proline-rich region of ITK fused to the tyrosine kinase domain of SYK. |
| Normal role description: | ITK is a tyrosine kinase. Crucial in the T-cell process of recognizing new antigens and learning adaptive immunity. ITK is recruited to the cell surface after antigen/T-cell interaction and propagates a signal downstream that leads to lymphocyte maturation and differentiation. Also invovles in Th2 signalling. Fusion protein implicated in oncogenesis through disrupted ITK-SYK signal transduction |