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Ask your administrator if you think this is wrong. ======= FLCN ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: FLCN * **<color #00a2e8>Official Name</color>**: folliculin * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=201163|201163]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q8NFG4|Q8NFG4]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=FLCN&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20FLCN|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607273|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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]. * **<color #00a2e8>UniProt Summary</color>**: 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}. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |Folliculin| </modal> <modal id='GO_terms' size='lg' title='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| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> ^Screen^Score^ |[[:results:exp100|NFN1 1μM R03 exp100]]|-2.25| |[[:results:exp281|Disulfiram 4.3μM R06 exp281]]|-2.12| |[[:results:exp160|Ribavirin 10 to 15μM on day4 R04 exp160]]|-1.98| |[[:results:exp67|BVD-523 15μM R02 exp67]]|-1.96| |[[:results:exp462|Cadmium 60μM R08 exp462]]|-1.93| |[[:results:exp99|NFN1 0.4μM R03 exp99]]|-1.82| |[[:results:exp103|Taxol 0.004μM R03 exp103]]|-1.79| |[[:results:exp476|Dihydrosphingosine 8μM R08 exp476]]|-1.78| |[[:results:exp406|Thalidomide 20μM R07 exp406]]|-1.74| |[[:results:exp423|Zebularine 20μM R07 exp423]]|-1.72| |[[:results:exp459|Bleomycin 5μM R08 exp459]]|1.71| |[[:results:exp259|6-Thio-2-deoxyguanosine 2μM R06 exp259]]|1.73| |[[:results:exp474|CR131-b 0.005μM R08 exp474]]|1.74| |[[:results:exp7|Bortezomib 0.05μM R00 exp7]]|1.76| |[[:results:exp335|Aminopterin 0.005μM R07 exp335]]|1.82| |[[:results:exp487|Hinokiflavone 12μM R08 exp487]]|1.87| |[[:results:exp214|2-Deoxy-D-glucose 800μM R05 exp214]]|1.92| |[[:results:exp211|AICAR 240μM R05 exp211]]|1.98| |[[:results:exp440|Aphidicolin 0.4μM R08 exp440]]|2.06| |[[:results:exp500|LY2090314 0.003μM R08 exp500 no dilution day6]]|2.1| |[[:results:exp451|Atovaquone 15μM R08 exp451]]|2.13| |[[:results:exp84|UM0125461 0.74μM R02 exp84]]|2.2| |[[:results:exp450|Artemisinin 50μM R08 exp450]]|2.43| |[[:results:exp175|3-Bromopyruvate 7μM R04 exp175]]|2.53| |[[:results:exp21|MLN-4924 0.2μM R00 exp21]]|2.54| |[[:results:exp456|Benzoate 20000μM R08 exp456]]|3.14| |[[:results:exp35|TRAIL 5ng/ml R00 exp35]]|4.83| |[[:results:exp36|TRAIL 50ng/ml R00 exp36]]|4.87| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> ^Gene^Correlation^ |[[:human genes:f:fnip1|FNIP1]]|0.693| |[[:human genes:l:lamtor4|LAMTOR4]]|0.682| |[[:human genes:l:lamtor2|LAMTOR2]]|0.68| |[[:human genes:w:wdr24|WDR24]]|0.605| |[[:human genes:l:lamtor1|LAMTOR1]]|0.558| |[[:human genes:l:lamtor5|LAMTOR5]]|0.558| |[[:human genes:r:rraga|RRAGA]]|0.555| |[[:human genes:l:lamtor3|LAMTOR3]]|0.516| |[[:human genes:c:casp3|CASP3]]|0.497| |[[:human genes:v:vps41|VPS41]]|0.494| |[[:human genes:m:mios|MIOS]]|0.483| |[[:human genes:c:ccnc|CCNC]]|0.47| |[[:human genes:l:lsm12|LSM12]]|0.463| |[[:human genes:t:tbc1d5|TBC1D5]]|0.439| |[[:human genes:p:pax5|PAX5]]|0.432| |[[:human genes:i:ikzf1|IKZF1]]|0.425| |[[:human genes:i:irf2|IRF2]]|0.416| |[[:human genes:w:wdr59|WDR59]]|0.415| |[[:human genes:t:tnfrsf10b|TNFRSF10B]]|0.415| |[[:human genes:r:rptor|RPTOR]]|0.408| |[[:human genes:c:cdk6|CDK6]]|0.405| |[[:human genes:f:fbxo11|FBXO11]]|0.404| |[[:human genes:d:dohh|DOHH]]|0.401| </modal> <modal id='Essential_Avana' size='lg' title='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| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 2450 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.73 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='FLCN Expression in NALM6 Cells: 5.73'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1