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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] See more...
Aliases for FLCN Gene
Aliases for FLCN Gene
External Ids for FLCN Gene
- HGNC: 27310
- NCBI Entrez Gene: 201163
- Ensembl: ENSG00000154803
- OMIM®: 607273
- UniProtKB/Swiss-Prot: Q8NFG4
Previous GeneCards Identifiers for FLCN Gene
- GC17M017056
- GC17M016868
- GC17M017115
- GC17M017212
Summaries for FLCN Gene
-
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]
GeneCards Summary for FLCN Gene
FLCN (Folliculin) is a Protein Coding gene. Diseases associated with FLCN include Pneumothorax, Primary Spontaneous and Birt-Hogg-Dube Syndrome. Among its related pathways are ErbB signaling pathway and mTOR signaling pathway (KEGG). An important paralog of this gene is ENSG00000264187.
UniProtKB/Swiss-Prot Summary for FLCN Gene
-
GTPase-activating protein that plays a key role in the cellular response to amino acid availability through regulation of the mTORC1 signaling cascade controlling the MiT/TFE factors TFEB and TFE3 (PubMed:17028174, PubMed:18663353, PubMed:21209915, PubMed:24081491, PubMed:24095279, PubMed:31704029, PubMed:31672913). Activates mTORC1 by acting as a GTPase-activating protein: specifically stimulates GTP hydrolysis by RRAGC/RagC or RRAGD/RagD, promoting the conversion to the GDP-bound state of RRAGC/RagC or RRAGD/RagD, and thereby activating the kinase activity of mTORC1 (PubMed:24095279, PubMed:31704029, PubMed:31672913). The GTPase-activating activity is inhibited during starvation and activated in presence of nutrients (PubMed:31672913). Acts as a key component for 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 (PubMed:21209915, PubMed:24081491, PubMed:31672913). 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 maximizes nuclear translocation of TFEB and TFE3 (PubMed:31672913). Upon amino acid restimulation, RRAGA/RagA (or RRAGB/RagB) nucleotide exchange promotes disassembly of the LFC complex and liberates the GTPase-activating activity of FLCN, leading to activation of mTORC1 and subsequent cytoplasmic retention of TFEB and TFE3 (PubMed:31672913). Indirectly acts as a positive regulator of Wnt signaling by promoting mTOR-dependent cytoplasmic retention of MiT/TFE factor TFE3 (PubMed:31272105). Required for the exit of hematopoietic stem cell from pluripotency by promoting mTOR-dependent cytoplasmic retention of TFE3, thereby increasing Wnt signaling (PubMed:30733432). Acts as an inhibitor of browning of adipose tissue by regulating mTOR-dependent cytoplasmic retention of TFE3 (By similarity). In response to flow stress, regulates STK11/LKB1 accumulation and mTORC1 activation through primary cilia: may act by recruiting STK11/LKB1 to primary cilia for activation of AMPK resided at basal bodies, causing mTORC1 down-regulation (PubMed:27072130). Together with FNIP1 and/or FNIP2, regulates autophagy: following phosphorylation by ULK1, interacts with GABARAP and promotes autophagy (PubMed:25126726). Required for starvation-induced perinuclear clustering of lysosomes by promoting association of RILP with its effector RAB34 (PubMed:27113757).
Additional gene information for FLCN Gene
- HGNC (27310)
- NCBI Entrez Gene (201163)
- Ensembl (ENSG00000154803)
- OMIM® (607273)
- UniProtKB/Swiss-Prot (Q8NFG4)
- Open Targets Platform(ENSG00000154803)
- Monarch Initiative
- Search for FLCN at DataMed
- Search for FLCN at HumanCyc
No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FLCN Gene
Genomics for FLCN Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for FLCN Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around FLCN on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FLCN
- Top Transcription factor binding sites by QIAGEN in the FLCN gene promoter:
-
- AML1a
- AP-2alpha
- FOXJ2
- FOXJ2 (long isoform)
- GR
- GR-alpha
- MIF-1
- Nkx2-5
- p53
Genomic Locations for FLCN Gene
Latest Assembly
- chr17:17,206,946-17,237,188
- (GRCh38/hg38)
- Size:
- 30,243 bases
- Orientation:
- Minus strand
Previous Assembly
- chr17:17,115,526-17,140,482
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 24,957 bases
- Orientation:
- Minus strand
- chr17:17,115,526-17,140,502
- (GRCh37/hg19 by Ensembl)
- Size:
- 24,977 bases
- Orientation:
- Minus strand
Genomic View for FLCN Gene
Genes around FLCN on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17p11.2 by HGNC
- 17p11.2 by Entrez Gene
- 17p11.2 by Ensembl
FLCN Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FLCN Gene
Proteins for FLCN Gene
-
Protein details for FLCN Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8NFG4-FLCN_HUMAN
- Recommended name:
- Folliculin
- Protein Accession:
- Q8NFG4
- A6NJJ8
- Q6ZRX1
- Q96BD2
- Q96BE4
Protein attributes for FLCN Gene
- Size:
- 579 amino acids
- Molecular mass:
- 64473 Da
- Quaternary structure:
-
- Interacts (via C-terminus) with FNIP1 or FNIP2 (via C-terminus) (PubMed:17028174, PubMed:18403135, PubMed:18663353, PubMed:27353360). Component of the lysosomal folliculin complex (LFC), composed of FLCN, FNIP1 (or FNIP2), RRAGA/RagA or RRAGB/RagB GDP-bound, RRAGC/RagC or RRAGD/RagD GTP-bound, and Ragulator (PubMed:31704029, PubMed:31672913). Interaction with FNIP1 or FNIP2 mediates indirect interaction with the PRKAA1, PRKAB1 and PRKAG1 subunits of 5'-AMP-activated protein kinase (AMPK) (PubMed:17028174). Interacts with HSP90AA1 in the presence of FNIP1 (PubMed:27353360). Interacts with HSP70, STUB1, CDC37, AHSA1, CCT2, STIP1, PTGES3 and PPP5C (PubMed:27353360). Interacts with GABARAP; interaction takes place in the presence of FNIP1 and/or FNIP2 (PubMed:25126726). Interacts with RILP; the interaction is direct and promotes association between RILP and RAB34 (PubMed:27113757). Interacts with KIF3A and KIF3B (PubMed:27072130).
Protein Expression for FLCN Gene
Post-translational modifications for FLCN Gene
- Phosphorylation by ULK1 modulates the interaction with GABARAP and is required to regulate autophagy.
-
Ubiquitination at Lys206 and Lys559
- NX_Q8NFG4 (NX_Q8NFG4-1)
- Modification sites at PhosphoSitePlus
Other Protein References for FLCN Gene
Antibodies for research
- LifeSpan BioSciences FLCN / Folliculin Antibody (LS-B7753) and FLCN / Folliculin Antibody (LS-B15471)
-
Custom Antibody ServicesOriGene Antibodies for FLCN
- Novus Biologicals Antibodies for FLCN
-
Abcam antibodies for FLCN
- Invitrogen Antibodies for FLCN (AFLGC-FLCN)
- antibodies-online: Show 28 available FLCN Antibodies ranked by validation data
- Compare Top FLCN Antibodies
-
Recommended
- 16 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 3 IHC Antibodies (anti-mouse)
- 14 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 3 IHC Antibodies (anti-rat)
- 74 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 3 IHC Antibodies (anti-human)
- 1 IHC (p) Antibody (anti-human)
-
Boster Bio Antibodies for FLCN
-
Custom Antibody ServicesProSci Antibodies for FLCN
-
Santa Cruz Biotechnology (SCBT) Antibodies for FLCN
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for FLCN
- Origene Custom Protein Services for FLCN
-
Abcam proteins for FLCN
Assay products for research
No data available for DME Specific Peptides for FLCN Gene
Domains & Families for FLCN Gene
Gene Families for FLCN Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Predicted intracellular proteins
Protein Domains for FLCN Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for FLCN Gene
- GenScript: Design optimal peptide antigens:
-
- Birt-Hogg-Dube syndrome protein (FLCN_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8NFG4- Family:
-
- Belongs to the folliculin family.
Function for FLCN Gene
Molecular function for FLCN Gene
- UniProtKB/Swiss-Prot Function:
- GTPase-activating protein that plays a key role in the cellular response to amino acid availability through regulation of the mTORC1 signaling cascade controlling the MiT/TFE factors TFEB and TFE3 (PubMed:17028174, PubMed:18663353, PubMed:21209915, PubMed:24081491, PubMed:24095279, PubMed:31704029, PubMed:31672913). Activates mTORC1 by acting as a GTPase-activating protein: specifically stimulates GTP hydrolysis by RRAGC/RagC or RRAGD/RagD, promoting the conversion to the GDP-bound state of RRAGC/RagC or RRAGD/RagD, and thereby activating the kinase activity of mTORC1 (PubMed:24095279, PubMed:31704029, PubMed:31672913). The GTPase-activating activity is inhibited during starvation and activated in presence of nutrients (PubMed:31672913). Acts as a key component for 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 (PubMed:21209915, PubMed:24081491, PubMed:31672913). 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 maximizes nuclear translocation of TFEB and TFE3 (PubMed:31672913). Upon amino acid restimulation, RRAGA/RagA (or RRAGB/RagB) nucleotide exchange promotes disassembly of the LFC complex and liberates the GTPase-activating activity of FLCN, leading to activation of mTORC1 and subsequent cytoplasmic retention of TFEB and TFE3 (PubMed:31672913). Indirectly acts as a positive regulator of Wnt signaling by promoting mTOR-dependent cytoplasmic retention of MiT/TFE factor TFE3 (PubMed:31272105). Required for the exit of hematopoietic stem cell from pluripotency by promoting mTOR-dependent cytoplasmic retention of TFE3, thereby increasing Wnt signaling (PubMed:30733432). Acts as an inhibitor of browning of adipose tissue by regulating mTOR-dependent cytoplasmic retention of TFE3 (By similarity). In response to flow stress, regulates STK11/LKB1 accumulation and mTORC1 activation through primary cilia: may act by recruiting STK11/LKB1 to primary cilia for activation of AMPK resided at basal bodies, causing mTORC1 down-regulation (PubMed:27072130). Together with FNIP1 and/or FNIP2, regulates autophagy: following phosphorylation by ULK1, interacts with GABARAP and promotes autophagy (PubMed:25126726). Required for starvation-induced perinuclear clustering of lysosomes by promoting association of RILP with its effector RAB34 (PubMed:27113757).
- UniProtKB/Swiss-Prot EnzymeRegulation:
- GTPase-activating activity is inhibited in the folliculin complex (LFC), which stabilizes the GDP-bound state of RRAGA/RagA (or RRAGB/RagB), because Arg-164 is located far from the RRAGC/RagC or RRAGD/RagD nucleotide pocket (PubMed:31672913). Disassembly of the LFC complex upon amino acid restimulation liberates the GTPase-activating activity (PubMed:31672913).
Phenotypes From GWAS Catalog for FLCN Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005085 | guanyl-nucleotide exchange factor activity | IEA | -- |
| GO:0005096 | GTPase activator activity | IEA,IDA | 24095279 |
| GO:0005515 | protein binding | IPI | 17028174 |
| GO:0044877 | protein-containing complex binding | IDA | 17028174 |
Phenotypes for FLCN Gene
- MGI mutant phenotypes for FLCN:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for FLCN:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for FLCN - Starting at $85 >
- * FLCN CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FLCN
-
Santa Cruz Biotechnology (SCBT) CRISPR for FLCN
miRNA for FLCN Gene
- miRTarBase miRNAs that target FLCN
-
- hsa-miR-103a-3p (MIRT026994)
- hsa-miR-16-5p (MIRT031444)
- hsa-miR-615-3p (MIRT040311)
- hsa-miR-3942-3p (MIRT460303)
- hsa-miR-3915 (MIRT460304)
- hsa-miR-4436b-5p (MIRT460305)
- hsa-miR-6077 (MIRT460306)
- hsa-miR-4751 (MIRT460307)
- hsa-miR-3928-3p (MIRT460308)
- hsa-miR-4257 (MIRT460309)
- hsa-miR-6847-5p (MIRT460310)
- hsa-miR-205-3p (MIRT460311)
- hsa-miR-8485 (MIRT460312)
- hsa-miR-653-5p (MIRT518525)
- hsa-miR-488-3p (MIRT518526)
- hsa-miR-95-5p (MIRT518527)
- hsa-miR-6838-5p (MIRT518528)
- hsa-miR-497-5p (MIRT518529)
- hsa-miR-424-5p (MIRT518530)
- hsa-miR-195-5p (MIRT518531)
- hsa-miR-15b-5p (MIRT518532)
- hsa-miR-15a-5p (MIRT518533)
- hsa-miR-4703-5p (MIRT518534)
- hsa-miR-3942-5p (MIRT518535)
- hsa-miR-409-3p (MIRT518536)
- hsa-miR-7161-5p (MIRT518537)
- hsa-miR-548u (MIRT518538)
- hsa-miR-1273e (MIRT761835)
- hsa-miR-128-3p (MIRT762172)
- hsa-miR-1827 (MIRT763046)
- hsa-miR-1910-3p (MIRT763283)
- hsa-miR-1972 (MIRT763525)
- hsa-miR-216a-3p (MIRT763862)
- hsa-miR-219b-3p (MIRT763918)
- hsa-miR-24-3p (MIRT764052)
- hsa-miR-2467-3p (MIRT764082)
- hsa-miR-25-3p (MIRT764169)
- hsa-miR-302f (MIRT764522)
- hsa-miR-32-5p (MIRT765584)
- hsa-miR-3612 (MIRT765904)
- hsa-miR-363-3p (MIRT766189)
- hsa-miR-367-3p (MIRT766628)
- hsa-miR-3681-3p (MIRT766746)
- hsa-miR-377-5p (MIRT767392)
- hsa-miR-4269 (MIRT768238)
- hsa-miR-4284 (MIRT768380)
- hsa-miR-4325 (MIRT768633)
- hsa-miR-4459 (MIRT769267)
- hsa-miR-455-3p (MIRT770318)
- hsa-miR-4640-5p (MIRT770557)
- hsa-miR-4645-5p (MIRT770581)
- hsa-miR-4668-5p (MIRT770853)
- hsa-miR-4673 (MIRT770883)
- hsa-miR-4695-5p (MIRT771185)
- hsa-miR-4722-5p (MIRT771547)
- hsa-miR-4726-5p (MIRT771672)
- hsa-miR-4755-3p (MIRT771946)
- hsa-miR-4768-3p (MIRT772078)
- hsa-miR-508-5p (MIRT773142)
- hsa-miR-5582-5p (MIRT774720)
- hsa-miR-5693 (MIRT775032)
- hsa-miR-6086 (MIRT775523)
- hsa-miR-6499-3p (MIRT776256)
- hsa-miR-650 (MIRT776662)
- hsa-miR-6511a-5p (MIRT776781)
- hsa-miR-6516-5p (MIRT777116)
- hsa-miR-665 (MIRT777552)
- hsa-miR-6715b-5p (MIRT777692)
- hsa-miR-6807-5p (MIRT779572)
- hsa-miR-6808-5p (MIRT779665)
- hsa-miR-6840-3p (MIRT780125)
- hsa-miR-6893-5p (MIRT781198)
- hsa-miR-6895-5p (MIRT781303)
- hsa-miR-7703 (MIRT782001)
- hsa-miR-92a-3p (MIRT782680)
- hsa-miR-92b-3p (MIRT782719)
- hsa-miR-940 (MIRT782892)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FLCN
- Browse OriGene Inhibitory RNA Products For FLCN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FLCN
Clone products for research
- Applied Biological Materials (abm): Clones for FLCN - Starting at $45 >
- * FLCN as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG209086
- MR209086
- MR209086L1
- MR209086L2
- MR209086L3
- MR209086L4
- MR230570
- MR230571
- RC204961
- RC204961L1
- RC204961L2
- RC204961L3
- RC204961L4
- RC220396
- RC220396L1
- RC220396L2
- RC220396L3
- RC220396L4
- RG204961
- RG220396
- RR210696
- RR210696L3
- RR210696L4
- MR209086L1V
- MR209086L2V
- MR209086L3V
- MR209086L4V
- RC204961L1V
- RC204961L2V
- RC204961L3V
- RC204961L4V
- RC220396L1V
- RC220396L2V
- RC220396L3V
- RC220396L4V
- RR210696L3V
- RR210696L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FLCN
- Addgene plasmids for FLCN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FLCN
Cell Lines for research
-
Horizon Cell Lines for FLCN
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FLCN Gene
Localization for FLCN Gene
Subcellular locations from UniProtKB/Swiss-Prot for FLCN Gene
- Lysosome membrane. Cytoplasm, cytosol. Cell projection, cilium. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Nucleus. Note=Localizes to lysosome membrane in amino acid-depleted conditions and relocalizes to the cytosol upon refeeding (PubMed:24095279, PubMed:29848618, PubMed:31672913). Colocalizes with FNIP1 and FNIP2 in the cytoplasm (PubMed:17028174, PubMed:18663353). Also localizes to motile and non-motile cilia, centrosomes and the mitotic spindle (PubMed:23784378). {ECO:0000269 PubMed:17028174, ECO:0000269 PubMed:18663353, ECO:0000269 PubMed:23784378, ECO:0000269 PubMed:24095279, ECO:0000269 PubMed:29848618, ECO:0000269 PubMed:31672913}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytoskeleton | 5 |
| nucleus | 5 |
| cytosol | 5 |
| lysosome | 5 |
| extracellular | 2 |
| mitochondrion | 2 |
| endosome | 2 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
- Cytosol (3)
- Plasma membrane (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,IDA | 17028174 |
| GO:0005737 | cytoplasm | IEA,IDA | 17028174 |
| GO:0005764 | lysosome | TAS | 25126726 |
| GO:0005765 | lysosomal membrane | IEA,IDA | 24081491 |
| GO:0005813 | centrosome | IDA | 23784378 |
Pathways & Interactions for FLCN Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Translational Control | ||
| 2 | mTOR signaling pathway (KEGG) | ||
| 3 | ErbB signaling pathway | ||
Pathways by source for FLCN Gene
2 KEGG pathways for FLCN Gene
1 Cell Signaling Technology pathway for FLCN Gene
Interacting Proteins for FLCN Gene
Selected Interacting proteins:
Q8NFG4-FLCN_HUMAN
ENSP00000285071
for FLCN Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for FLCN
SIGNOR curated interactions for FLCN Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IMP | 21209915 |
| GO:0001701 | in utero embryonic development | ISS | -- |
| GO:0001932 | regulation of protein phosphorylation | IDA | 18663353 |
| GO:0001934 | positive regulation of protein phosphorylation | ISS | -- |
| GO:0007043 | cell-cell junction assembly | ISS | -- |
Transcripts for FLCN Gene
mRNA/cDNA for FLCN Gene
- 5 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000285071 3667 nts (view in UCSC)
- ENST00000389168 3359 nts (view in UCSC)
- ENST00000389169 1692 nts (view in UCSC)
- ENST00000389171 2523 nts (view in UCSC)
- ENST00000417064 757 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for FLCN - Starting at $85 >
- * FLCN CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FLCN
-
Santa Cruz Biotechnology (SCBT) CRISPR for FLCN
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FLCN
- Browse OriGene Inhibitory RNA Products For FLCN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FLCN
Clone products for research
- Applied Biological Materials (abm): Clones for FLCN - Starting at $45 >
- * FLCN as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG209086
- MR209086
- MR209086L1
- MR209086L2
- MR209086L3
- MR209086L4
- MR230570
- MR230571
- RC204961
- RC204961L1
- RC204961L2
- RC204961L3
- RC204961L4
- RC220396
- RC220396L1
- RC220396L2
- RC220396L3
- RC220396L4
- RG204961
- RG220396
- RR210696
- RR210696L3
- RR210696L4
- MR209086L1V
- MR209086L2V
- MR209086L3V
- MR209086L4V
- RC204961L1V
- RC204961L2V
- RC204961L3V
- RC204961L4V
- RC220396L1V
- RC220396L2V
- RC220396L3V
- RC220396L4V
- RR210696L3V
- RR210696L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FLCN
- Addgene plasmids for FLCN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FLCN
Relevant External Links for FLCN Gene
- GeneLoc Exon Structure for
- FLCN
Expression for FLCN Gene
This gene is overexpressed in Bone (52.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FLCN Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FLCN
SOURCE GeneReport for Unigene cluster for FLCN Gene:
Hs.31652mRNA Expression by UniProt/SwissProt for FLCN Gene:
Q8NFG4-FLCN_HUMAN
Tissue specificity:
Expressed in most tissues tested, including skin, lung, kidney, heart, testis and stomach.
Evidence on tissue expression from TISSUES for FLCN Gene
- Lung(4.5)
- Skin(4.5)
- Spleen(4.4)
- Kidney(2.7)
- Thyroid gland(2.4)
- Nervous system(2.3)
- Muscle(2.2)
- Intestine(2.2)
- Heart(2.1)
- Blood(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for FLCN Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- integumentary
- nervous
- reproductive
- respiratory
- urinary
Regions:
Head and neck:
- ear
- eye
- face
- head
- outer ear
Thorax:
- chest wall
- diaphragm
- lung
Abdomen:
- intestine
- kidney
- large intestine
- stomach
Pelvis:
- anus
- rectum
- ureter
- urethra
- urinary bladder
- uterus
General:
- hair
- skin
Primer products for research
-
OriGene qPCR primer pairs for FLCN
-
OriGene qPCR primer pairs and template standards for FLCN
Gene Expression Assays for research
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for FLCN Gene
Orthologs for FLCN Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | FLCN 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| Dog (Canis familiaris) |
Mammalia | FLCN 30 31 |
|
OneToMany | |
| Cow (Bos Taurus) |
Mammalia | FLCN 30 31 |
|
OneToMany | |
| Mouse (Mus musculus) |
Mammalia | Flcn 30 17 31 |
|
OneToMany | |
| Rat (Rattus norvegicus) |
Mammalia | Flcn 30 |
|
||
| Chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
| FLCN 30 |
|
||||
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | flcn 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | flcn 30 31 |
|
OneToMany | |
| wufe38g11 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007579 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | BHD 30 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | F22D3.2 30 |
|
||
| flcn-1 31 |
|
OneToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.2717 31 |
|
OneToMany |
- Species where no ortholog for FLCN was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for FLCN Gene
- ENSEMBL:
- Gene Tree for FLCN (if available)
- TreeFam:
- Gene Tree for FLCN (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for FLCN: view image
Paralogs for FLCN Gene
Paralogs for FLCN Gene
Variants for FLCN Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FLCN Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 638865 | Pathogenic: Multiple fibrofolliculomas | 17,214,984(-) |
CTTCATCCACTCCTCC
NM_144997.7(FLCN):c.1177-169_1538del |
SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR | |
| 834199 | Uncertain Significance: Multiple fibrofolliculomas | 17,226,247(-) |
G/A NM_144997.7(FLCN):c.325C>T (p.His109Tyr) |
MISSENSE | |
| 835319 | Uncertain Significance: Multiple fibrofolliculomas | 17,216,380(-) |
C/T NM_144997.7(FLCN):c.1300G>A (p.Glu434Lys) |
MISSENSE | |
| 835373 | Pathogenic: Multiple fibrofolliculomas | 17,221,599(-) |
G/GT NM_144997.7(FLCN):c.808dup (p.Thr270fs) |
FRAMESHIFT | |
| 835557 | Uncertain Significance: Multiple fibrofolliculomas | 17,219,095(-) |
G/A NM_144997.7(FLCN):c.986C>T (p.Ser329Phe) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv893e212 | CNV | loss | 25503493 |
| esv1004208 | CNV | deletion | 20482838 |
| esv3582552 | CNV | loss | 25503493 |
| esv3582555 | CNV | loss | 25503493 |
| nsv155 | OTHER | inversion | 15895083 |
| nsv469777 | CNV | gain | 16826518 |
| nsv499114 | OTHER | inversion | 21111241 |
| nsv833380 | CNV | loss | 17160897 |
| nsv833382 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
40.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.97;
20.03% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for FLCN Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FLCN Gene
Disorders for FLCN Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pneumothorax, primary spontaneous |
|
|
| birt-hogg-dube syndrome |
|
|
| renal cell carcinoma, nonpapillary |
|
|
| potocki-lupski syndrome |
|
|
| chromophobe renal cell carcinoma |
|
Search FLCN in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
FLCN_HUMAN- Birt-Hogg-Dube syndrome (BHD) [MIM:135150]: A rare autosomal dominant genodermatosis characterized by hair follicle hamartomas (fibrofolliculomas), kidney tumors, and spontaneous pneumothorax. Fibrofolliculomas are part of the triad of Birt-Hogg-Dube syndrome skin lesions that also includes trichodiscomas and acrochordons. Onset of this dermatologic condition is invariably in adulthood. Birt-Hogg-Dube syndrome is associated with a variety of histologic types of renal tumors, including chromophobe renal cell carcinoma (RCC), benign renal oncocytoma, clear-cell RCC and papillary type I RCC. Multiple lipomas, angiolipomas, and parathyroid adenomas are also seen in Birt-Hogg-Dube syndrome patients. {ECO:0000269 PubMed:12204536, ECO:0000269 PubMed:15852235, ECO:0000269 PubMed:18234728, ECO:0000269 PubMed:19785621, ECO:0000269 PubMed:23784378, ECO:0000269 PubMed:31615547}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Primary spontaneous pneumothorax (PSP) [MIM:173600]: Condition in which air is present in the pleural space in the absence of a precipitating event, such as trauma or lung disease. This results in secondary collapse of the lung, either partially or completely, and some degree of hypoxia. PSP is relatively common, with an incidence between 7.4-18/100'000 for men and 1.2-6/100'000 for women and a dose-dependent, increased risk among smokers. Most cases are sporadic, typically occurring in tall, thin men aged 10-30 years and generally while at rest. Familial PSP is rarer and usually is inherited as an autosomal dominant condition with reduced penetrance, although X-linked recessive and autosomal recessive inheritance have also been suggested. {ECO:0000269 PubMed:15657874, ECO:0000269 PubMed:15805188, ECO:0000269 PubMed:17496196, ECO:0000269 PubMed:18505456, ECO:0000269 PubMed:18579543, ECO:0000269 PubMed:19483054, ECO:0000269 PubMed:25827758, ECO:0000269 PubMed:27486260, ECO:0000269 PubMed:31625278}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Renal cell carcinoma (RCC) [MIM:144700]: Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. Clear cell renal cell carcinoma is the most common subtype. {ECO:0000269 PubMed:18794106, ECO:0000269 PubMed:23922894}. Note=The gene represented in this entry may be involved in disease pathogenesis.
Additional Disease Information for FLCN
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for FLCN Gene
Publications for FLCN Gene
- Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax. (PMID: 18505456) Ren HZ … Yi L (Clinical genetics 2008) 3 4 23 41 74
- Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. (PMID: 17028174) Baba M … Zbar B (Proceedings of the National Academy of Sciences of the United States of America 2006) 2 3 4 23
- Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer. (PMID: 20522427) Nahorski MS … Maher ER (Journal of medical genetics 2010) 3 23 74
- Familial spontaneous pneumothorax and lung cysts due to a Folliculin exon 10 mutation. (PMID: 19483054) Sundaram S … Morrell NW (The European respiratory journal 2009) 3 4 23
- Interaction of folliculin (Birt-Hogg-Dubé gene product) with a novel Fnip1-like (FnipL/Fnip2) protein. (PMID: 18663353) Takagi Y … Hino O (Oncogene 2008) 3 4 23
ExternalLinks
Products for FLCN Gene
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- RC220396L1V
- RC220396L2V
- RC220396L3V
- RC220396L4V
- RR210696L3V
- RR210696L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- antibodies-online: Show 28 available FLCN Antibodies ranked by validation data
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- 1 IHC (p) Antibody (anti-human)
- antibodies-online: Show 12 available FLCN Elisa Kits ranked by validation data
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Sources for FLCN Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
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- (22) IntAct
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- (24) PharmGKB
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- (27) ASD
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- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
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- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
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- (48) IMGT
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- (50) miRBase
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- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
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