FLCN
Gene Information
- Official Symbol: FLCN
- Official Name: folliculin
- Aliases and Previous Symbols: N/A
- Entrez ID: 201163
- UniProt: Q8NFG4
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].
- UniProt Summary: May be a tumor suppressor. May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways. May regulate phosphorylation of RPS6KB1. {ECO:0000269|PubMed:12204536, ECO:0000269|PubMed:17028174, ECO:0000269|PubMed:18663353}.
Pfam Domains GO Terms
Pfam Domains
| Folliculin |
GO Terms
| negative regulation of mitochondrial DNA metabolic process |
| regulation of mitochondrial DNA metabolic process |
| negative regulation of ATP biosynthetic process |
| negative regulation of post-translational protein modification |
| regulation of post-translational protein modification |
| negative regulation of cellular respiration |
| negative regulation of cell proliferation involved in kidney development |
| negative regulation of nucleotide biosynthetic process |
| negative regulation of purine nucleotide biosynthetic process |
| regulation of pro-B cell differentiation |
| regulation of lymphoid progenitor cell differentiation |
| regulation of cell proliferation involved in kidney development |
| positive regulation of TORC1 signaling |
| negative regulation of kidney development |
| regulation of ATP biosynthetic process |
| negative regulation of purine nucleotide metabolic process |
| negative regulation of nucleotide metabolic process |
| cell-cell contact zone |
| negative regulation of Rho protein signal transduction |
| negative regulation of ATP metabolic process |
| TOR signaling |
| positive regulation of cellular response to transforming growth factor beta stimulus |
| positive regulation of transforming growth factor beta receptor signaling pathway |
| negative regulation of protein localization to nucleus |
| regulation of cellular respiration |
| energy homeostasis |
| regulation of TORC1 signaling |
| regulation of purine nucleotide biosynthetic process |
| positive regulation of TOR signaling |
| regulation of nucleotide biosynthetic process |
| negative regulation of protein kinase B signaling |
| negative regulation of cold-induced thermogenesis |
| negative regulation of TOR signaling |
| negative regulation of muscle tissue development |
| negative regulation of Ras protein signal transduction |
| negative regulation of mitochondrion organization |
| regulation of kidney development |
| regulation of histone acetylation |
| positive regulation of intrinsic apoptotic signaling pathway |
| negative regulation of small GTPase mediated signal transduction |
| regulation of peptidyl-lysine acetylation |
| negative regulation of ERK1 and ERK2 cascade |
| regulation of protein acetylation |
| regulation of hematopoietic progenitor cell differentiation |
| regulation of cytokinesis |
| negative regulation of small molecule metabolic process |
| regulation of TOR signaling |
| guanyl-nucleotide exchange factor activity |
| positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway |
| cell-cell junction assembly |
| negative regulation of cellular protein localization |
| regulation of transforming growth factor beta receptor signaling pathway |
| regulation of cellular response to transforming growth factor beta stimulus |
| regulation of protein localization to nucleus |
| regulation of purine nucleotide metabolic process |
| regulation of nucleotide metabolic process |
| regulation of ATP metabolic process |
| positive regulation of autophagy |
| negative regulation of DNA metabolic process |
| regulation of muscle tissue development |
| cell-cell junction organization |
| regulation of Rho protein signal transduction |
| regulation of cold-induced thermogenesis |
| regulation of histone modification |
| midbody |
| regulation of generation of precursor metabolites and energy |
| regulation of intrinsic apoptotic signaling pathway |
| negative regulation of MAPK cascade |
| regulation of cell division |
| cell junction assembly |
| positive regulation of apoptotic signaling pathway |
| regulation of mitochondrion organization |
| negative regulation of cell growth |
| regulation of chromatin organization |
| cilium |
| cell junction organization |
| regulation of protein kinase B signaling |
| regulation of transmembrane receptor protein serine/threonine kinase signaling pathway |
| regulation of Ras protein signal transduction |
| negative regulation of growth |
| lysosome |
| negative regulation of cell migration |
| protein-containing complex binding |
| regulation of cellular response to growth factor stimulus |
| negative regulation of cell motility |
| GTPase activator activity |
| regulation of ERK1 and ERK2 cascade |
| negative regulation of cellular component movement |
| negative regulation of locomotion |
| multicellular organismal homeostasis |
| regulation of autophagy |
| regulation of small GTPase mediated signal transduction |
| regulation of chromosome organization |
| regulation of DNA metabolic process |
| positive regulation of cellular catabolic process |
| negative regulation of organelle organization |
| in utero embryonic development |
| regulation of apoptotic signaling pathway |
| positive regulation of cell adhesion |
| negative regulation of protein phosphorylation |
| positive regulation of GTPase activity |
| regulation of cell growth |
| regulation of small molecule metabolic process |
| positive regulation of catabolic process |
| negative regulation of phosphorylation |
| regulation of hemopoiesis |
| regulation of GTPase activity |
| negative regulation of intracellular signal transduction |
| regulation of cellular protein localization |
| hemopoiesis |
| negative regulation of phosphate metabolic process |
| negative regulation of phosphorus metabolic process |
| negative regulation of protein modification process |
| hematopoietic or lymphoid organ development |
| chordate embryonic development |
| positive regulation of apoptotic process |
| immune system development |
| positive regulation of programmed cell death |
| embryo development ending in birth or egg hatching |
| regulation of growth |
| negative regulation of cell population proliferation |
| regulation of cell adhesion |
| positive regulation of cell death |
| negative regulation of cellular component organization |
| regulation of MAPK cascade |
| regulation of cell cycle process |
| positive regulation of hydrolase activity |
| regulation of cellular catabolic process |
| regulation of cell migration |
| negative regulation of transcription by RNA polymerase II |
| regulation of cell motility |
| regulation of cellular localization |
| negative regulation of developmental process |
| embryo development |
| regulation of locomotion |
| regulation of cellular component movement |
| regulation of catabolic process |
| positive regulation of protein phosphorylation |
| positive regulation of intracellular signal transduction |
| regulation of protein localization |
| negative regulation of cellular protein metabolic process |
| positive regulation of phosphorylation |
| negative regulation of protein metabolic process |
| positive regulation of phosphate metabolic process |
| positive regulation of phosphorus metabolic process |
| regulation of cell cycle |
| negative regulation of transcription, DNA-templated |
| negative regulation of multicellular organismal process |
| positive regulation of transcription by RNA polymerase II |
| positive regulation of protein modification process |
| negative regulation of nucleic acid-templated transcription |
| negative regulation of RNA biosynthetic process |
| negative regulation of signal transduction |
| regulation of hydrolase activity |
| regulation of organelle organization |
| negative regulation of RNA metabolic process |
| negative regulation of cell communication |
| negative regulation of signaling |
| negative regulation of cellular macromolecule biosynthetic process |
| positive regulation of catalytic activity |
| negative regulation of nucleobase-containing compound metabolic process |
| regulation of protein phosphorylation |
| negative regulation of macromolecule biosynthetic process |
| negative regulation of cellular biosynthetic process |
| regulation of apoptotic process |
| positive regulation of transcription, DNA-templated |
| negative regulation of biosynthetic process |
| regulation of programmed cell death |
| regulation of phosphorylation |
| positive regulation of cellular protein metabolic process |
| regulation of cell population proliferation |
| negative regulation of response to stimulus |
| positive regulation of nucleic acid-templated transcription |
| positive regulation of RNA biosynthetic process |
| homeostatic process |
| positive regulation of signal transduction |
| regulation of immune system process |
| regulation of cell death |
| intracellular signal transduction |
| positive regulation of protein metabolic process |
| negative regulation of gene expression |
| positive regulation of RNA metabolic process |
| positive regulation of molecular function |
| regulation of phosphate metabolic process |
| regulation of phosphorus metabolic process |
| regulation of cell differentiation |
| positive regulation of cell communication |
| positive regulation of signaling |
| regulation of intracellular signal transduction |
| regulation of protein modification process |
| positive regulation of nucleobase-containing compound metabolic process |
| positive regulation of macromolecule biosynthetic process |
| positive regulation of cellular biosynthetic process |
| positive regulation of gene expression |
| positive regulation of biosynthetic process |
CRISPR Data
Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Compound Hit
Most Correlated Genes in Chemogenomics
Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Global Fraction of Cell Lines Where Essential: 0/726
| Tissue | Fraction Of Cell Lines Where Essential |
|---|---|
| 1290807.0 | 0/1 |
| 909776.0 | 0/1 |
| bile duct | 0/28 |
| blood | 0/28 |
| bone | 0/25 |
| breast | 0/33 |
| central nervous system | 0/56 |
| cervix | 0/4 |
| colorectal | 0/17 |
| esophagus | 0/13 |
| fibroblast | 0/1 |
| gastric | 0/15 |
| kidney | 0/21 |
| liver | 0/20 |
| lung | 0/75 |
| lymphocyte | 0/14 |
| ovary | 0/26 |
| pancreas | 0/24 |
| peripheral nervous system | 0/16 |
| plasma cell | 0/15 |
| prostate | 0/1 |
| skin | 0/24 |
| soft tissue | 0/7 |
| thyroid | 0/2 |
| upper aerodigestive | 0/22 |
| urinary tract | 0/29 |
| uterus | 0/5 |
Essentiality in NALM6
- Essentiality Rank: 2450
- Expression level (log2 read counts): 5.73
Expression Distribution
FLCN Expression in NALM6 Cells: 5.73
