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FLCN folliculin [ Homo sapiens (human) ]

Gene ID: 201163, updated on 25-Jan-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (17212212..17237330, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (17158255..17183608, complement)
105.20220307 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
Compare labs
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
Compare labs
Familial spontaneous pneumothorax
MedGen: C1868193 OMIM: 173600 GeneReviews: Not available
Compare labs
Nonpapillary renal cell carcinoma
MedGen: CN074294 OMIM: 144700 GeneReviews: Not available
Compare labs
Potocki-Lupski syndrome
MedGen: C2931246 OMIM: 610883 GeneReviews: Potocki-Lupski Syndrome
Compare labs

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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 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 ATP biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
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 migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 cellular respiration IEA
Inferred from Electronic Annotation
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 gene expression ISS
Inferred from Sequence or Structural Similarity
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 mitochondrial DNA metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of mitochondrion organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
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 protein localization to nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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 cell adhesion 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 protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of pro-B cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
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_2023_10

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