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: | MDM2 |
| Gene Name: | MDM2 |
| Protein Full Name: | E3 ubiquitin-protein ligase Mdm2 |
| Alias: | Double minute 2 protein; Hdm2; HDM2; HDMX; Mdm2 p53 binding protein; MGC5370; Oncoprotein Mdm2; P53-binding protein Mdm2; Ubiquitin-protein ligase E3 Mdm2 |
| Mass (Da): | 55233 |
| Number AA: | 491 |
| UniProt ID: | Q00987 |
| Locus ID: | 4193 |
| COSMIC ID: | MDM2 |
| Gene location on chromosome: | 12q15 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20688 |
| Percent of cancer specimens with mutations: | 0.38 |
| Mutations observed as inherited: | NA |
| Found in amplified chromosomal regions in human cancers: | 12q15; soft tissue (20%), osteosarcomas (16%), esophageal carcinomas (13%) |
| Deregulated in translocations: | NA |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | MDM2 is a E3 ubiquitin-protein ligase that can ubiquinate p53 and lead to its degradation by the proteasome. It can also directly inhibit p53 activity by binding its transcriptional activation domain and inhibit p53-mediated cell cycle arrest and apoptosis. In addition to p53, it also promotes the proteasome-dependent but ubiquitin-independent degradation of Rb1, another protein involved in tumour suppression. An SNP (SNP309) found in the MDM2 promoter has been shown to increase the affinity of its transcriptional activator Sp1, resulting in overexpression and increased p53 inactivation. |