Version 5.4
Homo sapiens Gene: FLCN
Summary
InnateDB Gene IDBG-32795.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FLCN
Gene Name folliculin
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000154803
Encoded Proteins
IDBP-32797
folliculin
IDBP-32803
folliculin
IDBP-370874
folliculin
IDBP-759431
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:17212212-17237188
Strand Reverse strand
Band p11.2
Transcripts
ENST00000285071 ENSP00000285071
ENST00000389171
ENST00000389169 ENSP00000373821
ENST00000389168
ENST00000417064 ENSP00000410410
ENST00000466317
ENST00000480316
ENST00000461699 ENSP00000463970
ENST00000473853
ENST00000577591
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
Experimentally validated
Total 7 [view]
Protein-Protein 7 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0032403 protein complex binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001701 in utero embryonic development
GO:0001932 regulation of protein phosphorylation
GO:0001934 positive regulation of protein phosphorylation
GO:0007043 cell-cell junction assembly
GO:0010628 positive regulation of gene expression
GO:0010629 negative regulation of gene expression
GO:0010823 negative regulation of mitochondrion organization
GO:0030097 hemopoiesis
GO:0030308 negative regulation of cell growth
GO:0030336 negative regulation of cell migration
GO:0030511 positive regulation of transforming growth factor beta receptor signaling pathway
GO:0031929 TOR signaling
GO:0032006 regulation of TOR signaling
GO:0032007 negative regulation of TOR signaling
GO:0032008 positive regulation of TOR signaling
GO:0032465 regulation of cytokinesis
GO:0035024 negative regulation of Rho protein signal transduction
GO:0035065 regulation of histone acetylation
GO:0043065 positive regulation of apoptotic process
GO:0045785 positive regulation of cell adhesion
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0051898 negative regulation of protein kinase B signaling
GO:0070373 negative regulation of ERK1 and ERK2 cascade
GO:1900181 negative regulation of protein localization to nucleus
GO:1901723 negative regulation of cell proliferation involved in kidney development
GO:2000506 negative regulation of energy homeostasis
GO:2000973 regulation of pro-B cell differentiation
GO:2001170 negative regulation of ATP biosynthetic process
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0030496 midbody
GO:0044291 cell-cell contact zone
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000032633
View Gene Order
ENSBTAG00000008010
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa05211
Renal cell carcinoma pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.31652 Hs.633478
RefSeq NM_144606 NM_144997 XM_005256515
HUGO
OMIM
CCDS CCDS32579 CCDS32580
HPRD 06278
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca