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: | CHEK2 |
| Gene Name: | CHEK2 |
| Protein Full Name: | Serine/threonine-protein kinase Chk2 |
| Alias: | Cds1; CHEK2; CHK2 checkpoint homologue (S. pombe); EC 2.7.11.1; RAD53 |
| Mass (Da): | 60915 |
| Number AA: | 543 |
| UniProt ID: | O96017 |
| Locus ID: | 11200 |
| COSMIC ID: | CHEK2 |
| Gene location on chromosome: | 22q12.1 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 1483 |
| Percent of cancer specimens with mutations: | 0.94403236682 |
| Mutations observed as inherited: | Breast Cancer in the 1100delC mutation. |
| Normal role description: | CHEK2 is a protein kinase involved in cell cycle arrest in response to DNA damage. CHEK2 is activated through phosphorylation by ATM and ATR at threonine 68. Activated CHEK2 phosphorylates and inhibits CDC25 a dual-specificity phosphatase required for progression through the cell cycle. CHEK2 further causes cell cycle earrest through activation of a DNA repair protein BRCA1 and apoptosis factor PML. The role of CHEK2 in the development of cancer is in a primarily tumour suppressor role through causing cell cycle arrest. It has been observed that inhibition of CHEK2 through mutations in the regulatory FHA domain has been observed in low frequency in osteosarcomas and cancers of the ovary, lung and vulva. Another mutation, "1100delC" has been commonly found in breast cancers. |