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: | DIO2 |
| Gene Name: | DIO2 |
| Protein Full Name: | Type II iodothyronine deiodinase |
| Alias: | 5DII;DIOII;Type 2 DI;Type-II 5'-deiodinase |
| Mass (Da): | 30552 |
| Number AA: | 273 |
| UniProt ID: | Q92813 |
| Locus ID: | 1734 |
| COSMIC ID: | DIO2 |
| Gene location on chromosome: | 14q31.1 |
| Cancer protein type: | OP/TSP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | MIXED |
| Number of cancer specimens: | 19557 |
| Percent of cancer specimens with mutations: | 0.37 |
| Normal role description: | DIO2 belongs to the iodothyronine deiodinase family. It activates thyroid hormone by converting the prohormone thyroxine (T4) by outer ring deiodination to active 3,3',5-triiodothyronine (T3). It is highly expressed in the thyroid, and may therefore highly contribute to the relative increase in thyroidal T3 production in individuals with Graves disease and thyroid adenomas. The expression of DIO2 is increased in response to cold stimulation in brown adipose tissue, and DIO2 activation in human newborns is known to play a role in adaptive energy expenditure during cold exposure. The polymorphism Thr92Ala in Dio2 gene is associated with increased risk of mental retardation, insulin resistance in type 2 diabetic patients, reduced glucose availability in obese women, symptomatic osteoarthritis, Graves' disease and arterial hypertension. |
| Commentary on involvement of protein in cancer: | 1/22 (5%) of CNS tumours (a primitive neuroectodermal tumour-medulloblastoma) was mutated in the Sanger COSMIC database |