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: | POU6F2 |
| Gene Name: | POU6F2 |
| Protein Full Name: | POU domain, class 6, transcription factor 2 |
| Alias: | Retina-derived POU domain factor 1 |
| Mass (Da): | 72409 |
| Number AA: | 683 |
| UniProt ID: | P78424 |
| Locus ID: | 11281 |
| COSMIC ID: | POU6F2 |
| Gene location on chromosome: | 7p14.1 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBIT |
| Number of cancer specimens: | 19625 |
| Percent of cancer specimens with mutations: | 0.99 |
| Mutations observed as inherited: | Wilms tumor type 5 |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | NA |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | POU6F2 is a transcription factor likely to be involved in the early steps of amacrine and ganglion cell differentiation. Known as a tumour suppressor gene by promoting cell differentiation, defects have been associated with hereditary susceptibility to Wilms tumour type 5. |