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: | FLCN |
| Gene Name: | FLCN |
| Protein Full Name: | Folliculin |
| Alias: | BHD; BHD skin lesion fibrofolliculoma protein; Birt-Hogg-Dube syndrome protein; Folliculin: Birt-Hogg-Dube syndrome protein: BHD skin lesion fibrofolliculoma protein: Folliculin: Birt-Hogg-Dube syndrome protein: BHD skin lesion fibrofolliculoma protein: Folliculin: Birt-Hogg-Dube syndrome protein: BHD skin lesion fibrofolliculoma protein; MGC17998; MGC23445 |
| Mass (Da): | 64473 |
| Number AA: | 579 |
| UniProt ID: | Q8NFG4 |
| Locus ID: | 201163 |
| COSMIC ID: | FLCN |
| Gene location on chromosome: | 17p11.2 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 20145 |
| Percent of cancer specimens with mutations: | 0.54 |
| Mutations observed as inherited: | Birt-Hogg-Dube syndrome. |
| Normal role description: | FLCN is an enigmatic protein with no known clear function within a cell. It has been shown to interact with FNIP1, a protein which can interact with AMP-activated protein kinase a kinase involved in nutrient sensing and metabolism. FLCN has been implicated to cause Birt-Hogg-Dubé(BHD) syndrome, an inherited autosomal dominant condition characterized by the development of benign tumours of the hair follicles and having an increased risk of developing renal cancers and spontaenous pneumothorax caused by lung cysts. This syndrome is caused by germline mutations generally leading to truncated forms of FLCN either through frameshift, nonsense mutations or alternatively spliced isoforms. FCLN has been suggested to act as a tumour suppressor protein. |