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: | SETD2 |
| Gene Name: | SETD2 |
| Protein Full Name: | Histone-lysine N-methyltransferase SETD2 |
| Alias: | FLJ23184; HIF-1; Huntingtin interacting protein 1; HYPB; KIAA1732; KMT3A; SET domain containing 2 |
| Mass (Da): | 287550 |
| Number AA: | 2564 |
| UniProt ID: | Q9BYW2 |
| Locus ID: | 29072 |
| COSMIC ID: | SETD2 |
| Gene location on chromosome: | 3p21.31 |
| Cancer protein type: | OP/TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | MIXED |
| Number of cancer specimens: | 20599 |
| Percent of cancer specimens with mutations: | 2.45 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with many point mutations and deletion across entire protein, but no complex mutations or insertions. |
| Normal role description: | SETD2 is a histone methyltransferase that methylates 'Lys-36' of histone H3. Downstream transcriptional effect vary depending on the cell system. Given most renal cancer mutations result in nonsense or frameshift, it is plausible that SETD2 functions as a TSP in this system but this may not necessarily be the case for all cancer systems. |