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

  • Folliculin 2 3 4 5
  • BHD 2 3 4
  • BHD Skin Lesion Fibrofolliculoma Protein 3 4
  • Birt-Hogg-Dube Syndrome Protein 3 4
  • DENND8B 2 3
  • MGC17998 2
  • MGC23445 2
  • FLCL 3
  • FLCN 5

External Ids for FLCN Gene

Previous GeneCards Identifiers for FLCN Gene

  • GC17M017056
  • GC17M016868
  • GC17M017115
  • GC17M017212

Summaries for FLCN Gene

Entrez Gene Summary 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]

CIViC Summary for FLCN Gene

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 Translational Control. 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).

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:
FLCN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FLCN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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).

    Three dimensional structures from OCA and Proteopedia for FLCN Gene

    Alternative splice isoforms for FLCN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry 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
  • Modification sites at PhosphoSitePlus

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

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

UniProtKB/Swiss-Prot:

FLCN_HUMAN :
  • Belongs to the folliculin family.
Family:
  • Belongs to the folliculin family.
genes like me logo Genes that share domains with FLCN: view

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

Gene Ontology (GO) - Molecular Function 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
genes like me logo Genes that share ontologies with FLCN: view
genes like me logo Genes that share phenotypes with FLCN: view

Human Phenotype Ontology for FLCN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FLCN Gene

MGI Knock Outs for FLCN:
  • Flcn Flcn<tm1.1Lss>
  • Flcn Flcn<tm1.1Btt>

miRNA for FLCN Gene

miRTarBase miRNAs that target FLCN

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FLCN

Clone products for research

  • Addgene plasmids 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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FLCN gene
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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FLCN Gene

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
genes like me logo Genes that share ontologies with FLCN: view

Pathways & Interactions for FLCN Gene

genes like me logo Genes that share pathways with FLCN: view

Pathways by source for FLCN Gene

2 KEGG pathways for FLCN Gene
1 Cell Signaling Technology pathway for FLCN Gene

SIGNOR curated interactions for FLCN Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process 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 --
genes like me logo Genes that share ontologies with FLCN: view

Drugs & Compounds for FLCN Gene

(1) Drugs for FLCN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with FLCN: view

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 :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FLCN

Clone products for research

  • Addgene plasmids for FLCN

Alternative Splicing Database (ASD) splice patterns (SP) for FLCN Gene

No ASD Table

Relevant External Links for FLCN Gene

GeneLoc Exon Structure for
FLCN

Expression for FLCN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FLCN Gene

Protein differential expression in normal tissues from HIPED 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.31652

mRNA 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
genes like me logo Genes that share expression patterns with FLCN: view

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.

Orthologs for FLCN Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FLCN 29
  • 99.89 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 92 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 90 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia FLCN 29 30
  • 88.66 (n)
OneToMany
Cow
(Bos Taurus)
Mammalia FLCN 29 30
  • 87.62 (n)
OneToMany
Mouse
(Mus musculus)
Mammalia Flcn 29 16 30
  • 87.39 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Flcn 29
  • 86.59 (n)
Chicken
(Gallus gallus)
Aves -- 30
  • 88 (a)
OneToMany
FLCN 29
  • 78.74 (n)
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 73 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia flcn 29
  • 76.03 (n)
Zebrafish
(Danio rerio)
Actinopterygii flcn 29 30
  • 63.73 (n)
OneToMany
wufe38g11 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007579 29
  • 47.28 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta BHD 29 30
  • 45.89 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea F22D3.2 29
  • 40.76 (n)
flcn-1 30
  • 20 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2717 30
  • 43 (a)
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
Alliance of Genome Resources:
Additional Orthologs for FLCN

Paralogs for FLCN Gene

Paralogs for FLCN Gene

genes like me logo Genes that share paralogs with FLCN: view

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
1000495 Uncertain Significance: Multiple fibrofolliculomas 17,219,126(-) C/T
NM_144997.7(FLCN):c.955G>A (p.Gly319Arg)
MISSENSE
1000780 Uncertain Significance: Multiple fibrofolliculomas 17,227,933(-) C/A
NM_144997.7(FLCN):c.205G>T (p.Val69Phe)
MISSENSE
1002059 Uncertain Significance: Multiple fibrofolliculomas 17,219,042(-) T/G
NM_144997.7(FLCN):c.1039A>C (p.Lys347Gln)
MISSENSE
1004573 Uncertain Significance: Multiple fibrofolliculomas 17,221,567(-) C/T
NM_144997.7(FLCN):c.841G>A (p.Asp281Asn)
MISSENSE
1008712 Uncertain Significance: Multiple fibrofolliculomas 17,216,445(-) G/T
NM_144997.7(FLCN):c.1235C>A (p.Ala412Asp)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FLCN Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FLCN Gene

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

Variation tolerance for FLCN Gene

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

Human Gene Mutation Database (HGMD)
FLCN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FLCN
Leiden Open Variation Database (LOVD)
FLCN

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

MalaCards: The human disease database

(38) MalaCards diseases for FLCN Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
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

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Publications for FLCN Gene

  1. 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 22 40 72
  2. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. (PMID: 18234728) Toro JR … Linehan WM (Journal of medical genetics 2008) 3 4 22 72
  3. Novel mutations in the folliculin gene associated with spontaneous pneumothorax. (PMID: 18579543) Fröhlich BA … Russi EW (The European respiratory journal 2008) 3 4 22 72
  4. Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax. (PMID: 17496196) Gunji Y … Seyama K (Journal of medical genetics 2007) 3 4 22 72
  5. 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 22

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