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: | ARHGAP20 |
| Gene Name: | ARHGAP20 |
| Protein Full Name: | Rho GTPase-activating protein 20 |
| Mass (Da): | 132608 |
| Number AA: | 1191 |
| UniProt ID: | Q9P2F6 |
| Locus ID: | 57569 |
| COSMIC ID: | ARHGAP20 |
| Gene location on chromosome: | 11q23.1 |
| Cancer protein type: | OP/TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | MIXED |
| Number of cancer specimens: | 19808 |
| Percent of cancer specimens with mutations: | 1.01 |
| Deregulated in translocations: | Translocation t(X;11)(q21;q23) --> ARHGAP20 - BRWD3; and t(11;13)(q23;14) --> ARHGAP20 - novel gene on 13q14 (unpublished data) The ARHGAP20 - BRWD3 fusion (possibly the other one too) does not result in a fusion protein, but instead disrupts the functi |
| Normal role description: | ARHGAP20 contains a Rho-GAP domain and is essential for the the regulation of Rho-like GTPases in intracellular signalling, by converting them to the GDP-bound, inactive state. Fusion of the gene with BRWD3 and subsequent loss of its function has been implicated in B-CLL. However, the gene has also been found to be up-regulated in B-CLL, indicating that it may function both as an oncoprotein and as a tumour suppressor. |
| Commentary on involvement of protein in cancer: | 2% (2/101) of kidney samples in the Sanger COSMIC database were also mutated (mis-sense). |