U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    FLCN folliculin [ Homo sapiens (human) ]

    Gene ID: 201163, updated on 27-Nov-2024

    Summary

    Official Symbol
    FLCNprovided by HGNC
    Official Full Name
    folliculinprovided by HGNC
    Primary source
    HGNC:HGNC:27310
    See related
    Ensembl:ENSG00000154803 MIM:607273; AllianceGenome:HGNC:27310
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BHD; FLCL; DENND8B
    Summary
    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]
    Expression
    Ubiquitous expression in endometrium (RPKM 9.4), ovary (RPKM 9.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FLCN in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (17212212..17237330, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (17158255..17183608, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (17115526..17140482, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene myosin phosphatase Rho interacting protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17088115-17088615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11791 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11792 Neighboring gene RNA, 7SL, cytoplasmic 775, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17094445-17095112 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17095113-17095778 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8234 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11793 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8235 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17109841-17110680 Neighboring gene phospholipase D family member 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17132411-17132910 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11794 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:17141243-17141428 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:17154504-17154606 Neighboring gene actin gamma 1 pseudogene 24 Neighboring gene COP9 signalosome subunit 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11795 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8239

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Birt-Hogg-Dube syndrome
    MedGen: C0346010 GeneReviews: Birt-Hogg-Dube Syndrome
    not available
    Birt-Hogg-Dube syndrome 1
    MedGen: CN375946 OMIM: 135150 GeneReviews: Birt-Hogg-Dube Syndrome
    not available
    Colorectal cancer
    MedGen: C0346629 OMIM: 114500 GeneReviews: Lynch Syndrome
    not available
    Familial spontaneous pneumothorax
    MedGen: C1868193 OMIM: 173600 GeneReviews: Not available
    not available
    Nonpapillary renal cell carcinoma
    MedGen: CN074294 OMIM: 144700 GeneReviews: Not available
    not available
    Potocki-Lupski syndrome
    MedGen: C2931246 OMIM: 610883 GeneReviews: Potocki-Lupski Syndrome
    not available

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2023-01-11)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2023-01-11)

    ClinGen Genome Curation Page

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with folliculin (FLCN) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ45004, FLJ99377, MGC17998, MGC23445, DKFZp547A118

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables enzyme inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in ERK1 and ERK2 cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in TOR signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell proliferation involved in kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell-cell junction assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to amino acid starvation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to starvation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in energy homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hemopoiesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in in utero embryonic development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in intracellular signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in intrinsic apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lysosome localization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of ERK1 and ERK2 cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of Rho protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of TOR signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of brown fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cell proliferation involved in kidney development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of glycolytic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of lysosome organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of post-translational protein modification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of TOR signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of TOR signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of TORC1 signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of TORC1 signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of autophagy IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of intrinsic apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transforming growth factor beta receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of transforming growth factor beta receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of Ras protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of TOR signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of pro-B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in transforming growth factor beta receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of FNIP-folliculin RagC/D GAP IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with cell-cell contact zone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cilium TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosome TAS
    Traceable Author Statement
    more info
    PubMed 
    colocalizes_with midbody IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitotic spindle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    folliculin
    Names
    BHD skin lesion fibrofolliculoma protein
    birt-Hogg-Dube syndrome protein
    NP_001340158.1
    NP_001340159.1
    NP_001340160.1
    NP_653207.1
    NP_659434.2
    XP_011522016.1
    XP_011522020.1
    XP_011522023.1
    XP_016879794.1
    XP_016879797.1
    XP_016879798.1
    XP_047291487.1
    XP_047291488.1
    XP_047291489.1
    XP_047291490.1
    XP_047291491.1
    XP_047291492.1
    XP_047291493.1
    XP_047291494.1
    XP_047291495.1
    XP_047291496.1
    XP_047291497.1
    XP_047291498.1
    XP_054171308.1
    XP_054171309.1
    XP_054171310.1
    XP_054171311.1
    XP_054171312.1
    XP_054171313.1
    XP_054171314.1
    XP_054171315.1
    XP_054171316.1
    XP_054171317.1
    XP_054171318.1
    XP_054171319.1
    XP_054171320.1
    XP_054171321.1
    XP_054171322.1
    XP_054171323.1
    XP_054171324.1
    XP_054171325.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008001.2 RefSeqGene

      Range
      5001..29977
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_325

    mRNA and Protein(s)

    1. NM_001353229.2NP_001340158.1  folliculin isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC055811
      Conserved Domains (2) summary
      pfam11704
      Location:106283
      Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
      pfam16692
      Location:367581
      Folliculin_C; Folliculin C-terminal domain
    2. NM_001353230.2NP_001340159.1  folliculin isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC055811
      Consensus CDS
      CCDS32579.1
      UniProtKB/Swiss-Prot
      A6NJJ8, Q6ZRX1, Q8NFG4, Q96BD2, Q96BE4
      Conserved Domains (2) summary
      pfam11704
      Location:106265
      Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
      pfam16692
      Location:344566
      Folliculin_C; Folliculin C-terminal domain
    3. NM_001353231.2NP_001340160.1  folliculin isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC055811
      Consensus CDS
      CCDS32579.1
      UniProtKB/Swiss-Prot
      A6NJJ8, Q6ZRX1, Q8NFG4, Q96BD2, Q96BE4
      Conserved Domains (2) summary
      pfam11704
      Location:106265
      Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
      pfam16692
      Location:344566
      Folliculin_C; Folliculin C-terminal domain
    4. NM_144606.7NP_653207.1  folliculin isoform 2

      See identical proteins and their annotated locations for NP_653207.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, as compared to variant 1. Isoform 2 has a shorter and distinct C-terminus, as compared to isoform 1.
      Source sequence(s)
      AC055811, BC015687, CX759825, DA461022
      Consensus CDS
      CCDS32580.1
      UniProtKB/TrEMBL
      A0A0S2Z5Y7
      Related
      ENSP00000373821.5, ENST00000389169.9
      Conserved Domains (1) summary
      pfam11704
      Location:106265
      Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
    5. NM_144997.7NP_659434.2  folliculin isoform 1

      See identical proteins and their annotated locations for NP_659434.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC055811, AF517523, CX759825, DA461022
      Consensus CDS
      CCDS32579.1
      UniProtKB/Swiss-Prot
      A6NJJ8, Q6ZRX1, Q8NFG4, Q96BD2, Q96BE4
      Related
      ENSP00000285071.4, ENST00000285071.9
      Conserved Domains (2) summary
      pfam11704
      Location:106265
      Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
      pfam16692
      Location:344566
      Folliculin_C; Folliculin C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      17212212..17237330 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435536.1XP_047291492.1  folliculin isoform X2

      UniProtKB/Swiss-Prot
      A6NJJ8, Q6ZRX1, Q8NFG4, Q96BD2, Q96BE4
    2. XM_047435531.1XP_047291487.1  folliculin isoform X1

    3. XM_047435541.1XP_047291497.1  folliculin isoform X3

    4. XM_047435538.1XP_047291494.1  folliculin isoform X2

      UniProtKB/Swiss-Prot
      A6NJJ8, Q6ZRX1, Q8NFG4, Q96BD2, Q96BE4
    5. XM_011523718.4XP_011522020.1  folliculin isoform X1

      See identical proteins and their annotated locations for XP_011522020.1

      Conserved Domains (2) summary
      pfam11704
      Location:106283
      Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
      pfam16692
      Location:367581
      Folliculin_C; Folliculin C-terminal domain
    6. XM_017024309.3XP_016879798.1  folliculin isoform X3

      Conserved Domains (2) summary
      pfam11704
      Location:106190
      Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
      pfam16692
      Location:275489
      Folliculin_C; Folliculin C-terminal domain
    7. XM_011523714.4XP_011522016.1  folliculin isoform X1

      See identical proteins and their annotated locations for XP_011522016.1

      Conserved Domains (2) summary
      pfam11704
      Location:106283
      Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
      pfam16692
      Location:367581
      Folliculin_C; Folliculin C-terminal domain
    8. XM_017024305.3XP_016879794.1  folliculin isoform X1

      Conserved Domains (2) summary
      pfam11704
      Location:106283
      Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
      pfam16692
      Location:367581
      Folliculin_C; Folliculin C-terminal domain
    9. XM_047435534.1XP_047291490.1  folliculin isoform X1

    10. XM_047435537.1XP_047291493.1  folliculin isoform X2

      UniProtKB/Swiss-Prot
      A6NJJ8, Q6ZRX1, Q8NFG4, Q96BD2, Q96BE4
    11. XM_047435532.1XP_047291488.1  folliculin isoform X1

    12. XM_047435540.1XP_047291496.1  folliculin isoform X3

    13. XM_047435535.1XP_047291491.1  folliculin isoform X2

      UniProtKB/Swiss-Prot
      A6NJJ8, Q6ZRX1, Q8NFG4, Q96BD2, Q96BE4
    14. XM_017024308.2XP_016879797.1  folliculin isoform X2

      UniProtKB/Swiss-Prot
      A6NJJ8, Q6ZRX1, Q8NFG4, Q96BD2, Q96BE4
      Conserved Domains (2) summary
      pfam11704
      Location:106265
      Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
      pfam16692
      Location:344566
      Folliculin_C; Folliculin C-terminal domain
    15. XM_047435533.1XP_047291489.1  folliculin isoform X1

    16. XM_011523721.4XP_011522023.1  folliculin isoform X1

      See identical proteins and their annotated locations for XP_011522023.1

      Conserved Domains (2) summary
      pfam11704
      Location:106283
      Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
      pfam16692
      Location:367581
      Folliculin_C; Folliculin C-terminal domain
    17. XM_047435539.1XP_047291495.1  folliculin isoform X1

    18. XM_047435542.1XP_047291498.1  folliculin isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      17158255..17183608 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315341.1XP_054171316.1  folliculin isoform X2

      UniProtKB/Swiss-Prot
      A6NJJ8, Q6ZRX1, Q8NFG4, Q96BD2, Q96BE4
    2. XM_054315335.1XP_054171310.1  folliculin isoform X1

    3. XM_054315348.1XP_054171323.1  folliculin isoform X3

    4. XM_054315343.1XP_054171318.1  folliculin isoform X2

      UniProtKB/Swiss-Prot
      A6NJJ8, Q6ZRX1, Q8NFG4, Q96BD2, Q96BE4
    5. XM_054315339.1XP_054171314.1  folliculin isoform X1

    6. XM_054315346.1XP_054171321.1  folliculin isoform X3

    7. XM_054315333.1XP_054171308.1  folliculin isoform X1

    8. XM_054315334.1XP_054171309.1  folliculin isoform X1

    9. XM_054315338.1XP_054171313.1  folliculin isoform X1

    10. XM_054315342.1XP_054171317.1  folliculin isoform X2

      UniProtKB/Swiss-Prot
      A6NJJ8, Q6ZRX1, Q8NFG4, Q96BD2, Q96BE4
    11. XM_054315336.1XP_054171311.1  folliculin isoform X1

    12. XM_054315347.1XP_054171322.1  folliculin isoform X3

    13. XM_054315340.1XP_054171315.1  folliculin isoform X2

      UniProtKB/Swiss-Prot
      A6NJJ8, Q6ZRX1, Q8NFG4, Q96BD2, Q96BE4
    14. XM_054315344.1XP_054171319.1  folliculin isoform X2

      UniProtKB/Swiss-Prot
      A6NJJ8, Q6ZRX1, Q8NFG4, Q96BD2, Q96BE4
    15. XM_054315337.1XP_054171312.1  folliculin isoform X1

    16. XM_054315349.1XP_054171324.1  folliculin isoform X1

    17. XM_054315345.1XP_054171320.1  folliculin isoform X1

    18. XM_054315350.1XP_054171325.1  folliculin isoform X4