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: | NKX2-1 |
| Gene Name: | NKX2-1 |
| Protein Full Name: | Homeobox protein Nkx-2.1 |
| Alias: | BCH; Homeobox protein NK-2 homolog A; Homeobox protein Nkx-2.1; NK2 homeobox 1; NKX2-1; NKX2A; Thyroid nuclear factor 1; TITF1; TTF1 |
| Mass (Da): | 38596 |
| Number AA: | 371 |
| UniProt ID: | P43699 |
| Locus ID: | 7080 |
| COSMIC ID: | NKX2-1 |
| Gene location on chromosome: | 14q13.3 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20325 |
| Percent of cancer specimens with mutations: | 0.37 |
| Mutations observed as inherited: | NA |
| Found in amplified chromosomal regions in human cancers: | 14q13.3, primary lung adenocarcinomas (5-15%) |
| Deregulated in translocations: | NA |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | Yes in thyroid cancers (60% of observed cases) |
| Normal role description: | NKX2-1 is a transcription factor that plays an important role in activating the promoter of thyroid specific genes such as thyroglobulin, thyroperoxidase and thyrotropin receptor, as well as lung-specific genes such as the surfactant proteins and Clara cell secretory protein. Its role in the maintenance of the thyroid suggests that defects in the protein may promote thyroid cancer. Amplification of the gene has been noted in primary lung adenocarcinomas. |