Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

FLCN Gene

protein-coding   GIFtS: 60
GCID: GC17M017115

Folliculin

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
folliculin1 2
BHD2 3 5
Birt-Hogg-Dube Syndrome Protein2 3
BHD Skin Lesion Fibrofolliculoma Protein2 3
FLCL2

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


(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 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, and among its related super-pathways are Development HGF signaling pathway. GO annotations related to this gene include protein binding and protein complex binding. An important paralog of this gene is ENSG00000264187.

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




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010718.16  NC_018928.2  
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 plasmidFLCN 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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for FLCN at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated. Several different phosphorylated forms exist
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NFG4

  • FLCN Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    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: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for FLCN
    OriGene Protein Over-expression Lysate for FLCN
    OriGene MassSpec for 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 Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. 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: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for FLCN 
    OriGene Antibodies for FLCN
    OriGene Custom Antibody Services for FLCN
    GenScript Custom Superior Antibodies Services for FLCN
    Novus Biologicals FLCN Antibodies
    Abcam antibodies for FLCN
    Cloud-Clone Corp. Antibodies for FLCN 
    ThermoFisher Antibodies for FLCN
    LSBio Antibodies in human, mouse, rat for FLCN 

    Assay Products for FLCN: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for FLCN
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for FLCN
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for FLCN 
    Cloud-Clone Corp. CLIAs for FLCN


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     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


    FLCN for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 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:
         MGI mouse knock-outs for FLCN: Flcntm1.1Btt Flcntm1.1Lss

       inGenious Targeting Laboratory - Custom generated mouse model solutions for FLCN 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FLCN

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FLCN 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FLCN 

    miRNA
    Products:
        
    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 plasmidFLCN 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for FLCN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FLCN

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

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for FLCN (see all 13)
    OriGene ORF clones in mouse, rat for FLCN
    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)
    Sino Biological Human cDNA Clone for FLCN
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FLCN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FLCN
    Sirion Biotech Customized lentivirus for stable overexpression of FLCN 
                         Customized lentivirus expression plasmids for stable overexpression of FLCN 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for FLCN
    Search LifeMap BioReagents cell lines for FLCN
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FLCN


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for FLCN About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Development HGF signaling pathway
    Renal cell carcinoma0.30
    2Translational Control
    Translational Control

    Pathways by source                                                                                                                                                                 See SuperPaths
    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 ----

    FLCN for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 inferred 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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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:
         
    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 plasmidFLCN 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for FLCN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FLCN
    Clone
    Products:
         
    OriGene clones in human, mouse for FLCN (see all 13)
    OriGene ORF clones in mouse, rat for FLCN
    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
    Sirion Biotech Customized lentivirus for stable overexpression of FLCN 
                         Customized lentivirus expression plasmids for stable overexpression of FLCN 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for FLCN
    OriGene qSTAR qPCR primer pairs in human, mouse for FLCN
    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 mRNA 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):

    AI937607 BX281052 BM545992 AF517523 BQ267792 BM450806 NM_144997 AL831885 
    BC015687 NM_144606 BM696016 BM561166 BE741452 BG491339 BX112461 BC015725 
    BI546590 BG437992 CB243123 AJ230793 AK127912 BF794786 F11460 BU616004 

    GeneLoc Exon Structure


    (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)      FLCN embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGACCAAGT
    FLCN Expression
    About this image


    FLCN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             cerebellum   
     
     Ectoderm (Gastrulation Derivatives)
             Ectoderm
     
     Neural Ectoderm (Nervous System)
             Neural Plate
     
     Amnion (Extraembryonic Tissues)
             amniotic fluid   
     
     Thyroid (Endocrine System)

    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
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for FLCN
    OriGene qSTAR qPCR primer pairs in human, mouse for FLCN
    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
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FLCN

    (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 6/14 species (see all 14)    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
    Uncharacterized protein
    72(a)
    1 → many
    GL343500.1(378641-395341)
    zebrafish
    (Danio rerio)
    Actinopterygii wufe38g112 Transcribed sequence with weak similarity to protein refNP_495422.1 (C.elegans) F22D3.2.p [Caenorhabditis elegans] less 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 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



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/686 SNPs in FLCN are shown (see all 686)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0660234
    Birt-Hogg-Dube syndrome (BHD)4--see VAR_0660232 S I mis40--------
    VAR_0253604
    A primary clear-cell renal cell carcinoma4--see VAR_0253602 A S mis40--------
    VAR_0253584
    A primary colorectal cancer4--see VAR_0253582 R Q mis40--------
    VAR_0660284
    Primary spontaneous pneumothorax (PSP)4--see VAR_0660282 H Y mis40--------
    VAR_0253574
    A renal cell carcinoma cell line4--see VAR_0253572 A V mis40--------
    VAR_0660244
    Primary spontaneous pneumothorax (PSP)4--see VAR_0660242 E K mis40--------
    VAR_0660294
    Birt-Hogg-Dube syndrome (BHD)4--see VAR_0660292 K R mis40--------
    VAR_0253594
    A primary colorectal cancer4--see VAR_0253592 R G mis40--------
    VAR_0253564
    A sporadic colorectal carcinoma4--see VAR_0253562 S W mis40--------
    rs414195451,2,4
    C,FA sporadic colorectal carcinoma4 other117107444(+) ACGTGC/TGGCTG 2 T A mis14Minor allele frequency- T:0.00NA EU 5745

    HapMap Linkage Disequilibrium report for FLCN (17115526 - 17140502 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for FLCN:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1004208CNV Deletion20482838
    nsv833382CNV Loss17160897
    nsv833380CNV Loss17160897
    nsv469777CNV Complex16826518
    nsv155OTHER Inversion15895083
    nsv499114OTHER Inversion21111241


    Human Gene Mutation Database (HGMD): FLCN

    Locus Specific Mutation Databases (LSDB): FLCN
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing FLCN
    DNA2.0 Custom Variant and Variant Library Synthesis for FLCN

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607273   
    OMIM disorders: 135150  173600  144700  114500  
    UniProtKB/Swiss-Prot: FLCN_HUMAN, Q8NFG4
  • 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. 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 7.4-18/100'000 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. 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. Note=The gene represented in this entry may be involved in
    disease pathogenesis

  • 20/33 diseases for FLCN (see all 33):    About MalaCards
    birt-hogg-dube syndrome    pneumothorax    spontaneous pneumothorax    primary spontaneous pneumothorax
    renal oncocytoma    oxyphilic adenoma    angiolipoma    colorectal cancer, somatic
    renal carcinoma, chromophobe, somatic    chromophobe renal cell carcinoma    kidney cancer    benign tumors
    collecting duct carcinoma    tuberous sclerosis complex    papillary renal cell carcinoma    leiomyomatosis
    smith magenis syndrome    noma    parathyroid adenoma    renal cell carcinoma

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

    FLCN for disorders           About GeneDecksing

    10/17 Novoseek inferred 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
    GeneReviews: FLCN
    Genetic Association Database (GAD): FLCN
    Human Genome Epidemiology (HuGE) Navigator: FLCN (3 documents)

    Export disorders for FLCN gene to outside databases

    (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 103):
    (articles sorted by number of sources associating them with FLCN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax. (PubMed id 18505456)1, 2, 4, 9 Ren H.Z....Yi L. (2008)
    2. 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)
    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. (PubMed id 18234728)1, 2, 9 Toro J.R....Linehan W.M. (2008)
    4. 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)
    5. Folliculin mutations are not associated with severe COPD. (PubMed id 19116017)1, 4, 9 Cho M.H....Raby B.A. (2008)
    6. 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)
    7. Novel mutations in the folliculin gene associated with spontaneous pneumothorax. (PubMed id 18579543)1, 2, 9 Frohlich B.A....Russi E.W. (2008)
    8. Identification and characterization of a novel folliculin-interacting protein FNIP2. (PubMed id 18403135)1, 2, 9 Hasumi H.... Schmidt L.S. (2008)
    9. 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)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (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

    (According to HUGE)
    About This Section
      --

    (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

    (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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for FLCN   OriGene RNAi products in human, mouse, rat for FLCN  
     OriGene qPCR primer pairs and template standards for FLCN   OriGene Protein Over-expression Lysate for FLCN  
     OriGene MassSpec something-or-other for FLCN   OriGene clones in human, mouse for FLCN  
     OriGene qSTAR qPCR primer pairs in human, mouse for FLCN   OriGene Purified Protein for FLCN  
     OriGene ORF clones in mouse, rat for FLCN   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for FLCN   OriGene Custom Protein Services for FLCN  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FLCN
     QIAGEN SeqTarget long-range PCR primers for resequencing FLCN
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FLCN
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FLCN
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FLCN
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FLCN
     GenScript Custom Purified and Recombinant Proteins Services for FLCN GenScript cDNA clones with any tag delivered in your preferred vector for FLCN
     GenScript Custom Assay Services for FLCN GenScript Custom Superior Antibodies Services for FLCN
     GenScript Custom overexpressing Cell Line Services for FLCN CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Antibodies & Assays for FLCN 

     Regulatory tfbs in FLCN promoter
     Search Chromatin IP Primers for FLCN
     RT2 qPCR Primer Assay in human, mouse, rat FLCN
     GNC Network for FLCN
     SABiosciences Custom PCR Arrays for FLCN
     Search Tocris compounds for FLCN
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     cDNA Clones for FLCN
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     FLCN antibodies
     FLCN proteins
     FLCN lysates
     Antibodies for FLCN
     See all of Abcam's Antibodies, Kits and Proteins for FLCN
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for FLCN
     Antibodies for FLCN
     ELISAs for FLCN
     CLIAs for FLCN
     Search LifeMap BioReagents cell lines for FLCN
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FLCN
     SwitchGear 3'UTR luciferase reporter plasmids for FLCN
     SwitchGear Promoter luciferase reporter plasmids for FLCN
     ThermoFisher Antibodies for FLCN
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FLCN
     inGenious Targeting Laboratory - Custom generated mouse model solutions for FLCN
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FLCN
    Customized:
     lentivirus for stable overexpression of FLCN
     lentivirus expression plasmids for stable overexpression of FLCN
     adenovirus for overexpression of FLCN
     LSBio Antibodies in human, mouse, rat for FLCN
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      FLCN gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4