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: | DIRC2 |
Gene Name: | DIRC2 |
Protein Full Name: | Disrupted in renal carcinoma protein 2 |
Alias: | Disrupted in renal cancer protein 2 |
Mass (Da): | 52088 |
Number AA: | 478 |
UniProt ID: | Q96SL |
Locus ID: | 84925 |
COSMIC ID: | DIRC2 |
Gene location on chromosome: | 3q21 |
Cancer protein type: | TSP |
Effect of cancer mutation on protein: | LOSS |
Effect of active protein on cancer: | INHIBITS |
Number of cancer specimens: | 19625 |
Percent of cancer specimens with mutations: | 0.28 |
Deregulated in translocations: | t(2;3)(q35;q21) in familial/hereditary renal cell cancer. |
Normal role description: | DIRC2 is a membrane-bound protein that is part of the major-facilitator superfamily of transporters. Disruption of DIRC2 via translocation has been associated with haplo-insufficiency and renal cell carcinomas. |