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: | PLAGL1 |
| Gene Name: | PLAGL1 |
| Alias: | Lost on transformation 1;Pleiomorphic adenoma-like protein 1;Tumor supressor ZAC |
| Mass (Da): | 50819 |
| Number AA: | 463 |
| UniProt ID: | Q9UM63; A1YLA1; A1YLA2 |
| Locus ID: | 5325 |
| COSMIC ID: | PLAGL1 |
| Gene location on chromosome: | 6q24.2 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 19625 |
| Percent of cancer specimens with mutations: | 0.34 |
| Normal role description: | PLAGL2 is a C2H2 zinc finger protein with anti-proliferative properties, and is thought to function as a tumour suppressor. An allelic deletion of 6q24-q25, where the gene is located, has been found in ovarian- and breast cancer, head and neck squamous cell carcinomas, and pheochromocytomas. Overexpression of the gene during fetal development is thought to be a casue of transient neonatal diabetes mellitus. This gene is imprinted, with preferential expression of the paternal allele in most tissues, although biallelic expression has been found in peripheral blood leukocytes. |