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Aliases for FLCN Gene

Aliases for FLCN Gene

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

External Ids for FLCN Gene

Previous GeneCards Identifiers for FLCN Gene

  • GC17M017056
  • GC17M016868
  • GC17M017115

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]

GeneCards Summary for FLCN Gene

FLCN (Folliculin) is a Protein Coding gene. Diseases associated with FLCN include Birt-Hogg-Dube Syndrome and Pneumothorax, Primary Spontaneous. Among its related pathways are ErbB signaling pathway and mTOR signaling pathway (KEGG). GO annotations related to this gene include protein complex binding. An important paralog of this gene is ENSG00000264187.

UniProtKB/Swiss-Prot for FLCN Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FLCN Gene

Genomics for FLCN Gene

Regulatory Elements for FLCN Gene

Enhancers for FLCN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F017234 0.6 ENCODE 55.6 +0.4 431 3.5 ARNT MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 FLCN NT5M UPF3AP1 LOC644422 LOC100419436 PLD6 ENSG00000266498 ENSG00000264187
GH17F017210 0.8 ENCODE 47.8 +26.0 26031 1.3 ZFHX2 ZNF600 MNT ATF2 EGR2 FLCN RNU6-767P PLD6 MPRIP NT5M ENSG00000266498
GH17F017279 0.5 ENCODE 44 -43.7 -43721 2.6 PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 FOS ZNF263 FLCN NT5M MPRIP-AS1 COPS3 PLD6 ATPAF2 GC17P017245
GH17F017275 0.5 Ensembl ENCODE 38.1 -39.0 -39013 1.2 HDGF PKNOX1 JUNB SIN3A TBX21 JUND IKZF1 TARDBP NBN CREM FLCN NT5M COPS3 ATPAF2 GC17P017245
GH17F017040 1.1 FANTOM5 ENCODE 37.1 +193.3 193325 6.1 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 CBX5 ZNF143 FOS FLCN PLD6 MPRIP-AS1 SMCR5 ZNF624 MPRIP ZNF287 COPS3 RNU6-767P MED9
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around FLCN on UCSC Golden Path with GeneCards custom track

Promoters for FLCN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001341855 88 3400 ARNT MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for FLCN Gene

Chromosome:
17
Start:
17,206,924 bp from pter
End:
17,237,188 bp from pter
Size:
30,265 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 and FNIP2 (via C-terminus). This mediates indirect interaction with the PRKAA1, PRKAB1 and PRKAG1 subunits of 5-AMP-activated protein kinase (PubMed:17028174, PubMed:18403135, PubMed:18663353, PubMed:27353360). Interacts with HSP90AA1 in the presence of FNIP1. Interacts with HSP70, STUB1, CDC37, AHSA1, CCT2, STIP1, PTGES3 and PPP5C (PubMed:27353360).

    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

  • Phosphorylated. Several different phosphorylated forms exist.
  • Ubiquitination at Lys 206 and Lys 559
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for FLCN (FLCN)
  • Abcam antibodies for FLCN

No data available for DME Specific Peptides for FLCN Gene

Domains & Families for FLCN Gene

Gene Families for FLCN Gene

Protein Domains for FLCN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FLCN Gene

GenScript: Design optimal peptide antigens:

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:
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.

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:0005515 protein binding IPI 17028174
GO:0032403 protein 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:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

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

Cytoplasm. Nucleus. Note=Mainly localized in the nucleus. Colocalizes with FNIP1 and FNIP2 in the cytoplasm. {ECO:0000269 PubMed:17028174, ECO:0000269 PubMed:18663353}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FLCN Gene COMPARTMENTS Subcellular localization image for FLCN gene
Compartment Confidence
lysosome 5
nucleus 5
plasma membrane 5
vacuole 5
cytosol 3
extracellular 1
golgi apparatus 1
mitochondrion 1

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:0005886 plasma membrane IDA --
GO:0005929 cilium TAS 25126726
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

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

Gene Ontology (GO) - Biological Process for FLCN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter 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

No data available for SIGNOR curated interactions for FLCN Gene

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

Unigene Clusters for FLCN Gene

Folliculin:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for FLCN Gene

GeneLoc Exon Structure for
FLCN
ECgene alternative splicing isoforms 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, PaxDb, MaxQB, and MOPED for FLCN Gene



NURSA nuclear receptor signaling pathways regulating expression of FLCN Gene:

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

Primer Products

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 34
  • 99.89 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 92 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 90 (a)
OneToMany
dog
(Canis familiaris)
Mammalia FLCN 34 35
  • 88.66 (n)
cow
(Bos Taurus)
Mammalia FLCN 34 35
  • 87.62 (n)
mouse
(Mus musculus)
Mammalia Flcn 34 16 35
  • 87.39 (n)
rat
(Rattus norvegicus)
Mammalia Flcn 34
  • 86.59 (n)
chicken
(Gallus gallus)
Aves -- 35
  • 88 (a)
OneToMany
FLCN 34
  • 78.74 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 73 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia flcn 34
  • 76.03 (n)
zebrafish
(Danio rerio)
Actinopterygii flcn 34 35
  • 63.73 (n)
wufe38g11 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007579 34
  • 47.28 (n)
fruit fly
(Drosophila melanogaster)
Insecta BHD 34 35
  • 45.89 (n)
worm
(Caenorhabditis elegans)
Secernentea F22D3.2 34
  • 40.76 (n)
flcn-1 35
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2717 35
  • 43 (a)
OneToMany
Species where no ortholog for FLCN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

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 from dbSNP and Humsavar for FLCN Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs137852930 A sporadic colorectal carcinoma, Pathogenic 17,227,902(-) AAAGT(C/G)GGACA nc-transcript-variant, reference, missense
rs143483053 A primary colorectal cancer, Uncertain significance 17,219,122(+) GCTCC(C/T)GCCCT nc-transcript-variant, reference, missense
rs199643834 Birt-Hogg-Dube syndrome (BHD) [MIM:135150], Uncertain significance 17,215,000(+) CCTCC(C/T)TGAGG nc-transcript-variant, reference, missense
rs375082054 Primary spontaneous pneumothorax (PSP) [MIM:173600] 17,216,395(+) CACGT(A/G/T)GGGGG intron-variant, reference, missense
rs41419545 A sporadic colorectal carcinoma, Pathogenic 17,215,284(+) ACGTG(C/T)GGCTG nc-transcript-variant, reference, missense

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)

Relevant External Links for FLCN Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FLCN Gene

Disorders for FLCN Gene

MalaCards: The human disease database

(22) MalaCards diseases for FLCN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
birt-hogg-dube syndrome
  • birt-hogg-dubé syndrome
pneumothorax, primary spontaneous
  • pneumothorax
renal cell carcinoma
  • renal cell carcinoma, clear cell, somatic
colorectal cancer
  • colorectal cancer, somatic
pneumothorax
- 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}. Note=The disease is caused by mutations 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 7.4-18/100000 for men and 1.2-6/100000 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:18505456, ECO:0000269 PubMed:18579543}. Note=The disease is caused by mutations 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}. Note=The gene represented in this entry may be involved in disease pathogenesis.

Relevant External Links for FLCN

Genetic Association Database (GAD)
FLCN
Human Genome Epidemiology (HuGE) Navigator
FLCN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FLCN
genes like me logo Genes that share disorders with FLCN: view

No data available for Genatlas for FLCN Gene

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 H.Z. … Yi L. (Clin. Genet. 2008) 3 4 22 46 64
  2. 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. (Proc. Natl. Acad. Sci. U.S.A. 2006) 2 3 4 22 64
  3. BHD mutations, clinical and molecular genetic investigations of Birt- Hogg-Dube syndrome: a new series of 50 families and a review of published reports. (PMID: 18234728) Toro J.R. … Linehan W.M. (J. Med. Genet. 2008) 3 4 22 64
  4. Identification and characterization of a novel folliculin-interacting protein FNIP2. (PMID: 18403135) Hasumi H. … Schmidt L.S. (Gene 2008) 3 4 22 64
  5. Novel mutations in the folliculin gene associated with spontaneous pneumothorax. (PMID: 18579543) Frohlich B.A. … Russi E.W. (Eur. Respir. J. 2008) 3 4 22 64

Products for FLCN Gene

Sources for FLCN Gene

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