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: | NFE2L2 |
| Gene Name: | NFE2L2 |
| Protein Full Name: | Nuclear factor erythroid 2-related factor 2 |
| Alias: | HEBP1; NF2L2; NF-E2 related factor 2; NFE2-related factor 2; NF-E2-related factor 2; NFL2; Nrf2; NRF-2; Nuclear factor (erythroid-derived 2)-like 2; Nuclear factor erythroid 2 related factor 2; Nuclear factor, erythroid derived 2, like 2 |
| Mass (Da): | 67827 |
| Number AA: | 605 |
| UniProt ID: | Q16236 |
| Locus ID: | 4780 |
| COSMIC ID: | NFE2L2 |
| Gene location on chromosome: | 2q31.2 |
| Cancer protein type: | OP? |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | MIXED? |
| Number of cancer specimens: | 22016 |
| Percent of cancer specimens with mutations: | 1.33 |
| Normal role description: | NFE2L2 is a key antioxidant transcriptional activator that binds to antioxidant response elements (ARE) in the promoter regions of target genes, and plays a role in the up-regulation of certain cytoprotective genes in response to oxidative stress. But even though NFE2L2 plays a role in protecting cells from oxidative damage by reducing ROS levels, it may in the same way also facilitate tumour development. |
| Commentary on involvement of protein in cancer: | Only 1 liver cancer sample was included in Sanger COSMIC. 1/44 CNS tumour samples were also mutated (mis-sense) |