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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FLCN Gene

protein-coding   GIFtS: 57
GCID: GC17M017115

folliculin
 Explore 34 diseases affiliated with
FLCN via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for FLCN    

Aliases
for FLCN gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Folliculin1     MGC179981
BHD1 2 3 5     MGC234451
Birt-Hogg-Dube Syndrome Protein2 3     FLCL2
BHD Skin Lesion Fibrofolliculoma Protein2 3     

External Ids:    HGNC: 273101   Entrez Gene: 2011632   Ensembl: ENSG000001548037   OMIM: 6072735   UniProtKB: Q8NFG43   

Export aliases for FLCN gene to outside databases

Previous GC identifers: GC17M017056 GC17M016868


Summaries
for FLCN gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for FLCN:
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)

UniProtKB/Swiss-Prot: FLCN_HUMAN, Q8NFG4
Function: May play a role in the pathogenesis of an uncommon form of kidney cancer through its association with an
inherited disorder of the hair follicle (fibrofolliculomas). May be a tumor suppressor. May be involved in colorectal
tumorigenesis. May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways. May
regulate phosphorylation of RPS6KB1




Genomic Views
for FLCN gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010718.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FLCN gene promoter:
         GR   AML1a   p53   MIF-1   Nkx2-5   FOXJ2 (long isoform)   FOXJ2   GR-alpha   AP-2alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FLCN promoter sequence
   Search SABiosciences Chromatin IP Primers for FLCN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FLCN


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p11.2

FLCN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FLCN gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M017115:  view genomic region     (about GC identifiers)

Start:
 17,115,526 bp from pter      End:
 17,140,502 bp from pter
Size:
 24,977 bases      Orientation:
 minus strand

Proteins
for FLCN gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: FLCN_HUMAN, Q8NFG4 (See protein sequence)
Recommended Name: Folliculin  
Size: 579 amino acids; 64473 Da
Subunit: 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
Subcellular location: Cytoplasm. Nucleus. Note=Mainly localized in the nucleus. Co-localizes with FNIP1 and FNIP2 in
the cytoplasm
Developmental stage: Expressed in fetal lung, kidney, liver, and brain
1 PDB 3D structure from and Proteopedia for FLCN:
3V42 (3D)    
Secondary accessions: A6NJJ8 Q6ZRX1 Q96BD2 Q96BE4
Alternative splicing: 3 isoforms:  Q8NFG4-1   Q8NFG4-2   Q8NFG4-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FLCN: NX_Q8NFG4

Post-translational modifications:

  • Phosphorylated. Several different phosphorylated forms exist1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NFG4

    • FLCN Protein expression data from MOPED and PaxDb:    About this image 
    FLCN Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_653207.1  NP_659434.2  

    ENSEMBL proteins: 
     ENSP00000285071   ENSP00000373821   ENSP00000410410   ENSP00000463970  

    Human Recombinant Protein Products for FLCN: 
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: FLCN
    OriGene Protein Over-expression Lysate: FLCN
    OriGene Custom Protein Services for FLCN 
    GenScript Custom Purified and Recombinant Proteins Services for FLCN
    Novus Biologicals FLCN Proteins
    Novus Biologicals FLCN Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for FLCN

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA17028174
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane IDA--
    GO:0030496colocalizes with midbody IDA--
    GO:0044291colocalizes with cell-cell contact zone IDA--

    FLCN for ontologies           About GeneDecksing



    FLCN Antibody Products: 
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    Novus Biologicals FLCN Antibodies
    Abcam antibodies for FLCN 
    Uscn Antibodies for FLCN
    ThermoFisher Antibodies for FLCN

    Assay Products for FLCN: 
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    Uscn ELISAs and CLIAs for FLCN

    Protein Domains /
    Families
    for FLCN gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    FLCN for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR021713 Folliculin

    Graphical View of Domain Structure for InterPro Entry Q8NFG4

    ProtoNet protein and cluster: Q8NFG4

    UniProtKB/Swiss-Prot: FLCN_HUMAN, Q8NFG4
    Similarity: Belongs to the folliculin family


    Function
    for FLCN gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FLCN_HUMAN, Q8NFG4
    Function: May play a role in the pathogenesis of an uncommon form of kidney cancer through its association with an
    inherited disorder of the hair follicle (fibrofolliculomas). May be a tumor suppressor. May be involved in colorectal
    tumorigenesis. May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways. May
    regulate phosphorylation of RPS6KB1

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17028174
    GO:0032403protein complex binding IDA17028174
         
    FLCN for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for FLCN:
     Increased Salmonella enterica   Increased Salmonella enterica  

         10 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Flcn):
     cardiovascular system  cellular  embryogenesis  growth/size  hematopoietic system 
     homeostasis/metabolism  immune system  mortality/aging  renal/urinary system  tumorigenesis 

    FLCN for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-outs for FLCN: Flcntm1.1Btt Flcntm1.1Lss
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for FLCN 

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 2): FLCN
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FLCN
    8 QIAGEN miScript miRNA Assays for microRNAs that regulate FLCN:
    hsa-miR-548p hsa-miR-520d-5p hsa-miR-7-2* hsa-miR-545 hsa-miR-7-1* hsa-miR-524-5p hsa-miR-34a* hsa-let-7f-2*
    SwitchGear 3'UTR luciferase reporter plasmid: FLCN 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FLCN (see all 7)
    OriGene shRNA RFP: FLCN
    OriGene siRNA: FLCN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FLCN
    Sirion Biotech Custom design and validation of potent shRNA sequences against FLCN 

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for FLCN
    Sirion Biotech Customized adenovirus for overexpression of FLCN 
    Sirion Biotech Customized adenovirus for potent knockdown of FLCN

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FLCN (see all 4)
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    GenScript: all cDNA clones in your preferred vector (see all 2): FLCN (NM_144997)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FLCN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FLCN 

    Cell Line
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    Search LifeMap BioReagents cell lines for FLCN
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    Sirion Biotech Customized inducible overexpressing cell line services for FLCN

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FLCN


    Pathways & Interactions
    for FLCN gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Renal cell carcinoma
    		Renal cell carcinoma1.00
    2Translational Control
    		Translational Control1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for FLCN
        Translational Control


    1         Kegg Pathway  (Kegg details for FLCN):
        Renal cell carcinoma


    FLCN for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FLCN

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/6 Interacting proteins for FLCN (Q8NFG43 ENSP000002850714) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKAA2P546463, ENSP000003602904I2D: score=3 STRING: ENSP00000360290
    FNIP1Q8TF403, ENSP000003104534I2D: score=1 STRING: ENSP00000310453
    GABARAPO951663I2D: score=1 
    GABARAPL1Q9H0R83I2D: score=1 
    PRKAB2O437413I2D: score=1 
    About this table

    Gene Ontology (GO): 5/30 biological process terms (GO ID links to tree view) (see all 30):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IMP--
    GO:0001701in utero embryonic development ISS--
    GO:0001932regulation of protein phosphorylation IDA18663353
    GO:0001934positive regulation of protein phosphorylation ISS--
    GO:0006950response to stress IMP17028174

    FLCN for ontologies           About GeneDecksing



    Drugs & Compounds
    for FLCN gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    FLCN for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FLCN
    1 Novoseek chemical compound relationship for FLCN gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rapamycin 48.7 18 18182616 (3), 19234517 (2), 17028174 (1), 19843504 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about FLCN 

    Transcripts
    for FLCN gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for FLCN gene (2 alternative transcripts): 
    NM_144606.5  NM_144997.5  

    Unigene Cluster for FLCN:

    Folliculin
    Hs.31652  [show with all ESTs]
    Unigene Representative Sequence: NM_144997
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000285071(uc002gra.4) ENST00000577591 ENST00000466317 ENST00000389169(uc002grb.4)
    ENST00000480316 ENST00000417064 ENST00000389168 ENST00000389171(uc002grc.2)
    ENST00000461699 ENST00000473853

    miRNA
    Products:             		 OriGene 3'-UTR Clone (see all 2): FLCN
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FLCN
    8 QIAGEN miScript miRNA Assays for microRNAs that regulate FLCN:
    hsa-miR-548p hsa-miR-520d-5p hsa-miR-7-2* hsa-miR-545 hsa-miR-7-1* hsa-miR-524-5p hsa-miR-34a* hsa-let-7f-2*
    SwitchGear 3'UTR luciferase reporter plasmid: FLCN 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FLCN (see all 7)
    OriGene shRNA RFP: FLCN
    OriGene siRNA: FLCN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FLCN
    Sirion Biotech Custom design and validation of potent shRNA sequences against FLCN 
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FLCN (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FLCN (see all 2)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): FLCN (NM_144997)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FLCN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FLCN 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FLCN
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FLCN
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FLCN

    Additional cDNA sequence: 

    AF517523.1 AK309336.1 AL831885.1 BC015687.2 BC015725.2 

    11 DOTS entries:

    DT.91811409  DT.104884  DT.100752288  DT.99944309  DT.120933186  DT.75143612  DT.95264540  DT.97839211 
    DT.99962286  DT.91936681  DT.95360759 

    24/72 AceView cDNA sequences (see all 72):

    BC015687 AI937607 BM545992 NM_144997 AF517523 BM450806 BX281052 NM_144606 
    BQ267792 AL831885 BU616004 BM696016 BX112461 BE741452 BG491339 BG492041 
    BG491350 BQ423946 AL705902 BF794786 AW204482 BC015725 AA992036 AK126951 

    GeneLoc Exon Structure


    Expression
    for FLCN gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FLCN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAGACCAAGT
    FLCN Expression
    About this image

    FLCN expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartLeft VentricleHeart
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See FLCN Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FLCN

    SOURCE GeneReport for Unigene cluster: Hs.31652

    UniProtKB/Swiss-Prot: FLCN_HUMAN, Q8NFG4
    Tissue specificity: Expressed in most tissues tested, including skin, lung, kidney, heart, testis and stomach

        SABiosciences Custom PCR Arrays for FLCN
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FLCN

    Orthologs
    for FLCN gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for FLCN gene from 6/20 species (see all 20)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Flcn1 , 5 folliculin1, 5 87.39(n)1
    92.57(a)1    		   11 (37.79 cM)5
    2168051  NM_146018.11  NP_666130.11 
     597914085 
    chicken
    (Gallus gallus)    		 Aves FLCN1 folliculin 78.86(n)
    88.39(a)    		   416503  XM_414807.3  XP_414807.2 
    lizard
    (Anolis carolinensis)    		 Reptilia FLCN6
    		 --
    		 72(a)
    		 possible ortholog
    		 GL343500.1(381702-395341)
    zebrafish
    (Danio rerio)    		 Actinopterygii wufe38g112 Transcribed sequence with weak similarity to protein more 74.52(n)    CK400349.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta BHD1 Birt-Hogg-Dube homolog 46.19(n)
    33.48(a)    		   38793  NM_139833.1  NP_648090.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea F22D3.21 Protein F22D3.2 40.76(n)
    29.33(a)    		   174134  NM_001026936.2  NP_001022107.1 


    ENSEMBL Gene Tree for FLCN (if available)
    TreeFam Gene Tree for FLCN (if available) 

    Paralogs
    for FLCN gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FLCN gene
    ENSG000002641872  

    FLCN for paralogs           About GeneDecksing



    Genomic Variants
    for FLCN gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/552 NCBI SNPs in FLCN are shown (see all 552)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1378529291,2
    		Cpathogenic19305000(-) AAGTAC/G/TGAGTT 3 Y * stg1 syn11NA 4552
    rs414195451,2
    		C,Fother19304944(+) ACGTGC/TGGCTG 2 T A mis14Minor allele frequency- T:0.00NA EU 5745
    rs1130734081,2
    		--16868209(+) GTCACC/TATGCC 1 -- ds50011Minor allele frequency- T:0.50CSA 2
    rs116544071,2
    		C,H--16868535(+) TAAACA/CCAAAA 1 -- ut310--------
    rs72189921,2
    		C,F--16868551(+) AGAAAC/AAAATC 1 -- ut315Minor allele frequency- A:0.12NA CSA WA 244
    rs72238311,2
    		C,A--16868973(+) agatcG/Atgcca 1 -- ut31 ese31Minor allele frequency- A:0.50CSA 2
    rs72242131,2
    		C,F,H--16869445(+) AAGGTA/GCCCTC 1 -- ut315Minor allele frequency- G:0.01NS EA NA 520
    rs72243351,2
    		C,F,H--16869462(+) AAGGCC/TCAGAA 1 -- ut31 ese314Minor allele frequency- T:0.19NS EA NA WA 1710
    rs72244741,2
    		C,F,H--16869531(+) TATTGC/AGACTG 1 -- ut3122Minor allele frequency- A:0.17NS EA NA WA 2286
    rs762723411,2
    		C,F--16869664(+) CCTCCG/ACCTTT 1 -- ut311Minor allele frequency- A:0.03WA 118

    HapMap Linkage Disequilibrium report for FLCN (17115526 - 17140502 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for FLCN
         1 Inversion: 0495
    Human Gene Mutation Database (HGMD): FLCN

    Locus Specific Mutation Databases (LSDB): FLCN

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FLCN
    DNA2.0 Custom Variant and Variant Library Synthesis for FLCN

    Disorders / Diseases
    for FLCN gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    FLCN for disorders           About GeneDecksing

    OMIM gene information: 607273   
    OMIM disorders: 135150  173600  144700  114500  
    UniProtKB/Swiss-Prot: FLCN_HUMAN, Q8NFG4
  • Defects in FLCN are the cause of Birt-Hogg-Dube syndrome (BHD) [MIM:135150]. BHD is a rare autosomal dominant
    • genodermatosis characterized by hair follicle hamartomas (fibrofolliculomas), kidney tumors, and spontaneous
    pneumothorax. Fibrofolliculomas are part of the triad of BHD skin lesions that also includes trichodiscomas and
    acrochordons. Onset of this dermatologic condition is invariably in adulthood. BHD 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
    patients affected with this disease. The majority of mutations are predicted to prematurely terminate the protein
  • Defects in FLCN are in some cases a cause of primary spontaneous pneumothorax (PSP) [MIM:173600]. PSP is a
    • 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
  • Defects in FLCN may be a cause of 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

    20/34 diseases for FLCN (see all 34):    About MalaCards
    birt-hogg-dube syndrome    pneumothorax    smith-magenis syndrome    renal carcinoma, chromophobe, somatic
    spontaneous pneumothorax    collecting duct carcinoma    renal cell carcinoma    chromophobe renal cell carcinoma
    colorectal cancer, somatic    oxyphilic adenoma    angiolipoma    papillary renal cell carcinoma
    parathyroid adenoma    renal oncocytoma    benign tumors    leiomyomatosis
    tuberous sclerosis    renal carcinoma    lipoma    colorectal cancer

    5 diseases from the University of Copenhagen DISEASES database for FLCN:
    Pneumothorax     Renal cell carcinoma     Leiomyomatosis     Renal oncocytoma
    Oxyphilic adenoma

    10/17 Novoseek disease relationships for FLCN gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    birt-hogg-dube syndrome 95.8 5 16447066 (1), 19402075 (1), 15805188 (1)
    spontaneous pneumothorax 90.1 32 19116017 (3), 15805188 (2), 18505456 (2), 18234728 (1) (see all 16)
    kidney tumor 89.3 16 17323425 (2), 17028174 (1), 17149965 (1), 19733897 (1) (see all 11)
    oncocytoma 83.5 9 19733897 (2), 19418834 (1), 12204536 (1), 17133269 (1) (see all 6)
    renal cancer 78.1 14 15657874 (2), 18234728 (1), 19418834 (1), 16825879 (1) (see all 7)
    pneumothorax 77.4 10 19687589 (2), 16691634 (1), 16870330 (1), 18663353 (1) (see all 7)
    cysts 73.1 20 17496196 (3), 17028174 (1), 19418834 (1), 19687589 (1) (see all 14)
    carcinoma renal cell 72.3 18 17149965 (2), 19234517 (2), 17133269 (2), 15579035 (1) (see all 12)
    hamartoma 69.1 4 17028174 (1), 15143337 (1), 14961590 (1)
    skin lesion 64.6 6 17149965 (1), 15579035 (1), 16691634 (1), 16870330 (1) (see all 6)

    GeneTests: FLCN
    Birt-Hogg-Dube Syndrome

    Human Genome Epidemiology (HuGE) Navigator: FLCN (3 documents)

    Export disorders for FLCN gene to outside databases

    Publications
    for FLCN gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for FLCN gene, integrated from 9 sources (see all 94):
    (articles sorted by number of sources associating them with FLCN)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Interaction of folliculin (Birt-Hogg-Dube gene product) with a novel Fnip1-like (FnipL/Fnip2) protein. (PubMed id 18663353)1, 2, 9 Takagi Y....Hino O. (2008)
    2. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome: a new series of 50 families and a review of published reports. (PubMed id 18234728)1, 2, 9 Toro J.R....Linehan W.M. (2008)
    3. Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. (PubMed id 17028174)1, 2, 9 Baba M....Zbar B. (2006)
    4. A 4-bp deletion in the Birt-Hogg-Dube gene (FLCN) causes dominantly inherited spontaneous pneumothorax. (PubMed id 15657874)1, 2, 9 Painter J.N.... Aittomaeki K. (2005)
    5. Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax. (PubMed id 18505456)1, 2, 9 Ren H.Z....Yi L. (2008)
    6. Novel mutations in the folliculin gene associated with spontaneous pneumothorax. (PubMed id 18579543)1, 2, 9 Frohlich B.A....Russi E.W. (2008)
    7. Identification and characterization of a novel folliculin-interacting protein FNIP2. (PubMed id 18403135)1, 2, 9 Hasumi H.... Schmidt L.S. (2008)
    8. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg- Dube syndrome. (PubMed id 12204536)1, 2, 9 Nickerson M.L.... Schmidt L.S. (2002)
    9. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome. (PubMed id 15852235)1, 2, 9 Schmidt L.S.... Linehan W.M. (2005)
    10. Birt Hogg-Dube syndrome-associated FLCN mutations disrupt protein stability. (PubMed id 21538689)1, 2 Nahorski M.S....Maher E.R. (2011)

    External Searches for FLCN gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing FLCN gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 201163 HGNC: 27310 AceView: FLCN Ensembl:ENSG00000154803 euGenes: HUgn201163
    ECgene: FLCN Kegg: 201163 H-InvDB: FLCN

    Other Databases showing FLCN gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing FLCN gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FLCN Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FLCN Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FLCN

    Intellectual Property
    for FLCN gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for FLCN gene:
    Search GeneIP for patents involving FLCN

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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