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FLCN (Folliculin) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Renal cell carcinoma, Colorectal cancer, Gastric & gastro-oesophageal junction cancer and 3 more.
Multi-functional protein, involved in both the cellular response to amino acid availability and in the regulation of glycolysis. GTPase-activating protein that plays a key role in the cellular response to amino acid availability through regulation of the non-canonical mTORC1 signalling cascade controlling the MiT/TFE factors TFEB and TFE3. Activates mTORC1 by acting as a GTPase-activating protein: specifically stimulates GTP hydrolysis by RagC/RRAGC or RagD/RRAGD, promoting the conversion to the GDP-bound state of RagC/RRAGC or RagD/RRAGD, and thereby activating the kinase activity of mTORC1.
CIViC holds 3 clinical evidence items and 0 assertions across 3 variants, naming Everolimus and Sirolimus. Open Targets scores its association with cancer at 0.84 (direct and indirect evidence; datatypes genetic literature 0.75, affected pathway 0.76, literature 0.67, genetic association 0.75, somatic mutation 0.87, animal model 0.62). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Lung Adenocarcinoma.
In plain words · FLCN (Folliculin) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Renal cell carcinoma, Colorectal cancer, Gastric & gastro-oesophageal junction cancer and 3 more.
FLCN (Folliculin) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Renal cell carcinoma, Colorectal cancer, Gastric & gastro-oesophageal junction cancer and 3 more.
Multi-functional protein, involved in both the cellular response to amino acid availability and in the regulation of glycolysis.
No product in this corpus aims at FLCN yet. Because the protein is lost rather than overactive, drugs either restore its function or exploit the weakness its loss leaves (synthetic lethality).
Germline variant: UniProt lists Birt-Hogg-Dube syndrome 1 (BHD1) under involvement in disease, and the record is a tumour suppressor; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA FLCN: RNA low tissue specificity; high antibody staining in 3 normal tissues; highest cancer staining liver cancer (1 of 12 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Renal cell carcinoma, Colorectal cancer, Gastric & gastro-oesophageal junction cancer, Skin cancer (all types), Lung cancer (all types)); Open Targets associates it with 7 specific cancer types at or above 0.5 (Birt-Hogg-Dubé syndrome, hereditary neoplastic syndrome, nonpapillary renal cell carcinoma, colorectal cancer, colon carcinoma, renal carcinoma and more). (Rule 2 of scripts/fetch-target-specificity.ts.)
Sources: UniProt Q8NFG4; Human Protein Atlas FLCN tissue; Open Targets ENSG00000154803 associations
First described 2002. Earliest sequence paper UniProt cites for the protein: Nickerson M.L. et al, Cancer Cell, 2002, "Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome". Source.
Sources: HGNC HGNC:27310 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q8NFG4 (protein name, function text, keywords and locations (REST API)); CIViC gene FLCN (3 evidence items, 0 assertions, 3 variants; diseases: Renal Cell Carcinoma, Renal Carcinoma, Papillary Renal Cell Carcinoma (GraphQL API, CC0)); Open Targets ENSG00000154803 (association with cancer (MONDO_0004992) 0.84; per-cancer scores at or above 0.5: colorectal cancer 0.73, gastric cancer 0.51, renal cell carcinoma 0.74, skin cancer 0.50 (GraphQL API, CC0)); IntOGen FLCN (driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Multi-functional protein, involved in both the cellular response to amino acid availability and in the regulation of glycolysis. GTPase-activating protein that plays a key role in the cellular response to amino acid availability through regulation of the non-canonical mTORC1 signalling cascade controlling the MiT/TFE factors TFEB and TFE3. Activates mTORC1 by acting as a GTPase-activating protein: specifically stimulates GTP hydrolysis by RagC/RRAGC or RagD/RRAGD, promoting the conversion to the GDP-bound state of RagC/RRAGC or RagD/RRAGD, and thereby activating the kinase activity of mTORC1. The GTPase-activating activity is inhibited during starvation and activated in presence of nutrients. Acts as a key component for non-canonical mTORC1-dependent control of the MiT/TFE factors TFEB and TFE3, while it is not involved in mTORC1-dependent phosphorylation of canonical RPS6KB1/S6K1 and EIF4EBP1/4E-BP1. In low-amino acid conditions, the lysosomal folliculin complex (LFC) is formed on the membrane of lysosomes, which inhibits the GTPase-activating activity of FLCN, inactivates mTORC1 and maximises nuclear translocation of TFEB and TFE3. Location: Lysosome membrane; Cytoplasm, cytosol; Cell projection, cilium; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome (UniProt). Locus 17p11.2 (HGNC).
RNA: low tissue specificity, detected in all normal tissues.
Medium: Adipose tissue, Adrenal gland, Appendix, Breast, Caudate, Cerebellum, Cerebral cortex, Cervix.
Medium only: carcinoid, endometrial cancer, glioma, head and neck cancer.
Human Protein Atlas version 25.1, antibody staining at reliability approved, enhanced or supported; used under CC BY-SA 3.0. Staining counts are patients per level in the atlas cohort, not population prevalence.
Query for this target: (TITLE:"FLCN" OR ABSTRACT:"FLCN" OR TITLE:"folliculin" OR ABSTRACT:"folliculin" OR TITLE:"Folliculin" OR ABSTRACT:"Folliculin" OR TITLE:"MGC17998" OR ABSTRACT:"MGC17998" OR TITLE:"MGC23445" OR ABSTRACT:"MGC23445" OR TITLE:"DENND8B" OR ABSTRACT:"DENND8B") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about FLCN, not a curated reading list.
Shares Papillary renal cell carcinoma, Renal cell carcinoma, CIViC, IntOGen.
Shares Papillary renal cell carcinoma, Renal cell carcinoma, CIViC, IntOGen.
Shares Papillary renal cell carcinoma, Renal cell carcinoma, Skin cancer (all types), IntOGen.
Shares Papillary renal cell carcinoma, Renal cell carcinoma, CIViC, IntOGen.
Shares Papillary renal cell carcinoma, Renal cell carcinoma, IntOGen.
Shares Papillary renal cell carcinoma, Renal cell carcinoma, IntOGen, Open Targets Platform.
Shares Papillary renal cell carcinoma, Renal cell carcinoma, IntOGen, Open Targets Platform.
Shares Papillary renal cell carcinoma, CIViC.