• Gene id: 201163

Gene Summary

• Gene Symbol: FLCN   Gene   UCSC   Ensembl
• Aliases: BHD, DENND8B, FLCL
• Gene name: folliculin
• Alternate names: folliculin, BHD skin lesion fibrofolliculoma protein, birt-Hogg-Dube syndrome protein,
• Gene location: 17p11.2 (17237187: 17206945)     Exons: 18     NC_000017.11
• Gene summary(Entrez): 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 splici
• OMIM: 607273

Protein Summary

• Protein general information: Q8NFG4  
  • Name: Folliculin (BHD skin lesion fibrofolliculoma protein) (Birt Hogg Dube syndrome protein)
  • Length: 579  
  • Mass: 64473
  • Tissue specificity: Expressed in most tissues tested, including skin, lung, kidney, heart, testis and stomach. {ECO
• Sequence:

  MNAIVALCHFCELHGPRTLFCTEVLHAPLPQGDGNEDSPGQGEQAEEEEGGIQMNSRMRAHSPAEGASVESSSPG
  PKKSDMCEGCRSLAAGHPGYISHDKETSIKYVSHQHPSHPQLFSIVRQACVRSLSCEVCPGREGPIFFGDEQHGF
  VFSHTFFIKDSLARGFQRWYSIITIMMDRIYLINSWPFLLGKVRGIIDELQGKALKVFEAEQFGCPQRAQRMNTA
  FTPFLHQRNGNAARSLTSLTSDDNLWACLHTSFAWLLKACGSRLTEKLLEGAPTEDTLVQMEKLADLEEESESWD
  NSEAEEEEKAPVLPESTEGRELTQGPAESSSLSGCGSWQPRKLPVFKSLRHMRQVLGAPSFRMLAWHVLMGNQVI
  WKSRDVDLVQSAFEVLRTMLPVGCVRIIPYSSQYEEAYRCNFLGLSPHVQIPPHVLSSEFAVIVEVHAAARSTLH
  PVGCEDDQSLSKYEFVVTSGSPVAADRVGPTILNKIEAALTNQNLSVDVVDQCLVCLKEEWMNKVKVLFKFTKVD
  SRPKEDTQKLLSILGASEEDNVKLLKFWMTGLSKTYKSHLMSTVRSPTASESRN

• Structural information:
  • Protein Domains: (86..24-)
    (/note="uDENN-FLCN/SMCR8-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01178-)
    (339..49-)
    (/note="cDENN-FLCN/SMCR8-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01178-)
    (493..55-)
    (/note="dDENN-FLCN/SMCR8-type)
    (/evide-)
  • Interpro: IPR037521  IPR021713  IPR037520  IPR032035  
  • Prosite: PS51834
  • PDB: 3V42 6NZD 6ULG
  • PDBsum: 3V42 6NZD 6ULG
  • DIP: 61287
  • STRING: ENSP00000285071
• Other Databases: GeneCards:  FLCN  Malacards:  FLCN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005764	lysosome	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005929	cilium	TAS	cellular component
GO:0010508	positive regulation of autophagy	IMP	biological process
GO:1904263	positive regulation of TORC1 signaling	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0043547	positive regulation of GTPase activity	IBA	biological process
GO:0030511	positive regulation of transforming growth factor beta receptor signaling pathway	IBA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0032418	lysosome localization	IDA	biological process
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0034198	cellular response to amino acid starvation	IDA	biological process
GO:0005813	centrosome	IDA	cellular component
GO:0046578	regulation of Ras protein signal transduction	IDA	biological process
GO:0032008	positive regulation of TOR signaling	IDA	biological process
GO:0046578	regulation of Ras protein signal transduction	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0034198	cellular response to amino acid starvation	IDA	biological process
GO:0032008	positive regulation of TOR signaling	IDA	biological process
GO:0046578	regulation of Ras protein signal transduction	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0032008	positive regulation of TOR signaling	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0046578	regulation of Ras protein signal transduction	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0034198	cellular response to amino acid starvation	IDA	biological process
GO:0032008	positive regulation of TOR signaling	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0001932	regulation of protein phosphorylation	IDA	biological process
GO:0010508	positive regulation of autophagy	IDA	biological process
GO:0072686	mitotic spindle	IDA	cellular component
GO:0005929	cilium	IDA	cellular component
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0009267	cellular response to starvation	IDA	biological process
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0009267	cellular response to starvation	IDA	biological process
GO:0005096	GTPase activator activity	IDA	molecular function
GO:1903444	negative regulation of brown fat cell differentiation	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010823	negative regulation of mitochondrion organization	IEA	biological process
GO:0032008	positive regulation of TOR signaling	IEA	biological process
GO:0035065	regulation of histone acetylation	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:1901723	negative regulation of cell proliferation involved in kidney development	IEA	biological process
GO:1901859	negative regulation of mitochondrial DNA metabolic process	IEA	biological process
GO:1901862	negative regulation of muscle tissue development	IEA	biological process
GO:1903444	negative regulation of brown fat cell differentiation	IEA	biological process
GO:2000973	regulation of pro-B cell differentiation	IEA	biological process
GO:2001170	negative regulation of ATP biosynthetic process	IEA	biological process
GO:2001244	positive regulation of intrinsic apoptotic signaling pathway	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001934	positive regulation of protein phosphorylation	IEA	biological process
GO:0007043	cell-cell junction assembly	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0030097	hemopoiesis	IEA	biological process
GO:0030511	positive regulation of transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0032006	regulation of TOR signaling	IEA	biological process
GO:0032007	negative regulation of TOR signaling	IEA	biological process
GO:0051898	negative regulation of protein kinase B signaling	IEA	biological process
GO:0070373	negative regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0097009	energy homeostasis	IEA	biological process
GO:0120163	negative regulation of cold-induced thermogenesis	IEA	biological process
GO:1901856	negative regulation of cellular respiration	IEA	biological process
GO:1901874	negative regulation of post-translational protein modification	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0120163	negative regulation of cold-induced thermogenesis	ISS	biological process
GO:0030496	midbody	IDA	colocalizes with
GO:0005634	nucleus	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0044291	cell-cell contact zone	IDA	colocalizes with
GO:0044877	protein-containing complex binding	IDA	molecular function
GO:0030511	positive regulation of transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:1900181	negative regulation of protein localization to nucleus	IDA	biological process
GO:0030308	negative regulation of cell growth	IDA	biological process
GO:0070373	negative regulation of ERK1 and ERK2 cascade	ISS	biological process
GO:0035024	negative regulation of Rho protein signal transduction	IMP	biological process
GO:0032465	regulation of cytokinesis	IMP	biological process
GO:0032007	negative regulation of TOR signaling	ISS	biological process
GO:0032006	regulation of TOR signaling	ISS	biological process
GO:0030097	hemopoiesis	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001701	in utero embryonic development	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:2001170	negative regulation of ATP biosynthetic process	ISS	biological process
GO:2000973	regulation of pro-B cell differentiation	ISS	biological process
GO:1901723	negative regulation of cell proliferation involved in kidney development	ISS	biological process
GO:0032008	positive regulation of TOR signaling	ISS	biological process
GO:0097009	energy homeostasis	ISS	biological process
GO:0051898	negative regulation of protein kinase B signaling	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0045785	positive regulation of cell adhesion	IMP	biological process
GO:0043065	positive regulation of apoptotic process	ISS	biological process
GO:0031929	TOR signaling	IMP	biological process
GO:0030511	positive regulation of transforming growth factor beta receptor signaling pathway	ISS	biological process
GO:0007043	cell-cell junction assembly	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0001934	positive regulation of protein phosphorylation	ISS	biological process
GO:0035065	regulation of histone acetylation	ISS	biological process
GO:0030336	negative regulation of cell migration	IMP	biological process
GO:0010823	negative regulation of mitochondrion organization	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04150	mTOR signaling pathway
hsa05211	Renal cell carcinoma

Diseases

Associated diseases	References
Renal cell carcinoma	KEGG:H00021
Birt-Hogg-Dube syndrome	KEGG:H00818
Renal cell carcinoma	KEGG:H00021
Birt-Hogg-Dube syndrome	KEGG:H00818
Birt-Hogg-Dube syndrome	PMID:12204536
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq