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: | NR3C2 |
| Gene Name: | NR3C2 |
| Protein Full Name: | Mineralocorticoid receptor |
| Alias: | MLR; MR; NR3C2; nuclear receptor subfamily 3, group C, member 2 |
| Mass (Da): | 107067 |
| Number AA: | 984 |
| UniProt ID: | P08235 |
| Locus ID: | 4306 |
| COSMIC ID: | NR3C2 |
| Gene location on chromosome: | 4q31.1; 4q31.23 |
| Cancer protein type: | TSP? |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 19876 |
| Percent of cancer specimens with mutations: | 0.85 |
| Normal role description: | NRC3C2 is a sequence-specific nuclear receptor for both mineralocorticoids (MC) such as aldosterone and glucocorticoids (GC) such as corticosterone or cortisol. Binds to mineralocorticoid response elements (MRE) and transactivates target genes. The effect of MC is to increase ion and water transport and thus raise extracellular fluid volume and blood pressure and lower potassium levels. Aberrant expression of NR3C2 has been detected in various cancers and may serve as a marker in lung carcinomas, cervical carcinomas, and renal cell carcinomas. The functinal effect of mutations in NR3C2 have not been well characterized. A study has shown that reduction with NR3C2 is correlated with increased expression of VEGFR2 which may support a tumour suppressor function for NR3C2. |
| Commentary on involvement of protein in cancer: | Less than 3% mutation in Large intestine. |