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: | PEG3 |
| Gene Name: | PEG3 |
| Protein Full Name: | Paternally-expressed gene 3 protein |
| Alias: | Zinc finger and SCAN domain-containing protein 24 |
| Mass (Da): | 180827 |
| Number AA: | 1588 |
| UniProt ID: | Q9GZU2 |
| Locus ID: | 5178 |
| COSMIC ID: | PEG3 |
| Gene location on chromosome: | 19q13.43 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 19811 |
| Percent of cancer specimens with mutations: | 3.18 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with several point mutations, but no complex, insertion or deletion mutants. |
| Gene undergoes hypermethylation: | Ovarian cancer (26%) (11/42) |
| Normal role description: | The exact function of PEG3 is currently unknown but it has been found to induce apoptosis together with SIAH1A and to act as a mediator between p53 and BAX in the neuronal death pathway activated by DNA damage. It also acts synergistically with TRAF2 to inhibit TNF-induced apoptosis via activation of NFκB. The gene is down-regulated or silenced in many cancers, including glioma, ovarian-, endometrial-, cervical-, and breast cancer. |
| Commentary on involvement of protein in cancer: | 1/1 laryngeal samples was mutated (mis-sense) |