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: | JAK2 |
| Gene Name: | JAK2 |
| Protein Full Name: | Tyrosine-protein kinase JAK2 |
| Alias: | EC 2.7.10.2; JAK-2; Janus kinase 2; JTK10; Kinase Jak2 |
| Mass (Da): | 130674 |
| Number AA: | 1132 |
| UniProt ID: | O60674 |
| Locus ID: | 3717 |
| COSMIC ID: | JAK2 |
| Gene location on chromosome: | 9p24 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 133762 |
| Percent of cancer specimens with mutations: | 32.04 |
| General distribution of mutations: | Narrow |
| Location of most mutations: | Two main regions, one cluster (AA 617) with point mutations, the other (AA 537-547) with complex mutations including complex mutations, insertions and deletions. |
| Commonly recorded point mutations: | V617F (39,652); |
| Deregulated in translocations: | t(8;9)(p21-22;p24): PCM1-JAK2(myeloid and lymphoid malignancies); t(9;12)(p24;p13): JAK2-ETV6 (myeloid and lymphoid leukemias); t(9;22)(p24;q11.2): JAK2-BCR (atypical CML) |
| Normal role description: | JAK2 is a non-receptor protein-tyrosine kinase. Involved in cellular responses to growth factors and cytokines such as IL-3, GM-CSF and erythropoietin. Phosphorylates specific tyrosine residues on the cytoplasmic tails of the receptor, creating docking sites for STATs proteins. Subsequently, phosphorylates receptor bound STATs, which then form homo- or heterodimers and migrate to the nucleus to activate gene transcription. |
| Commentary on involvement of protein in cancer: | V617F in PV and AML; associated with susceptibility to Budd-Chiari syndrome; somatic mutation in a high percentage of patients with essential thrombocythemia or myelofibrosis; leads to constitutive tyrosine phosphorylation activity that promotes cytokine hypersensitivity. V617 is located in the first catalytic domain near subdomain V. |