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: | FOXL2 |
| Gene Name: | FOXL2 |
| Protein Full Name: | Forkhead box protein L2 |
| Alias: | Blepharophimosis, epicanthus inversus, and ptosis 1; BPES; BPES1; Forkhead box L2; PFRK; PINTO; POF3 |
| Mass (Da): | 38772 |
| Number AA: | 376 |
| UniProt ID: | P58012 |
| Locus ID: | 668 |
| COSMIC ID: | FOXL2 |
| Gene location on chromosome: | 3q22.3 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 24034 |
| Percent of cancer specimens with mutations: | 1.92 |
| General distribution of mutations: | Narrow |
| Location of most mutations: | Single site (283) of point mutations. |
| Commonly recorded point mutations: | C134W (418) |
| Normal role description: | Critical for normal ovarian development by repressing testicular differentiation (SOX9 promoter). Also has apoptotic activity in normal ovaries. Interacts with SMAD proteins. Most defects cause disruption of normal ovarian function leading to infertility but mutations also implicated in oncogenesis perhaps by removing essential repression in germ cells. |
| Commentary on involvement of protein in cancer: | C134W in granulosa-cell tumors of the ovary; not commonly found in other tumor types. C134 is found in the Fork-head DNA binding domain. |