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: | VHL |
| Gene Name: | VHL |
| Protein Full Name: | Von Hippel-Lindau disease tumor suppressor |
| Alias: | Protein G7;pVHL |
| Mass (Da): | 24153 |
| Number AA: | 213 |
| UniProt ID: | P40337; B4E1V7 |
| Locus ID: | 7428 |
| COSMIC ID: | VHL |
| Gene location on chromosome: | 3p26-p25 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 28836 |
| Percent of cancer specimens with mutations: | 8.35 |
| Commonly recorded point mutations: | L158V (22); S68* (19); S65L (18) |
| Mutations observed as inherited: | von Hippel-Lindau Syndrome kidney cancer. |
| Normal role description: | Regulation of transcription elongation. Cell division, cell death, cell differentiation, response to cell stress. It is also involved in regulation of angiogenesis. |