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The gene information section lists the gene name (HUGO Gene Nomenclature Committee (HGNC) name if available), any approved gene synonyms, Ensembl gene description, and the Entrez gene summary from the National Center for Biotechnology Information.
The chromosomal and cytoband location of the gene according to Ensembl is reported together with the Ensembl gene identifier and Ensembl database version.
The Entrez gene identifier for the gene is also given. If any of the protein products of
the gene is linked to a UniProt KB/SWISS-PROT entry, links to the UniProt and the
neXtProt databases for these proteins are displayed.
There is also a link to the Antibodypedia portal where validation data for antibodies produced by other suppliers
against this gene can be found.
Gene name
FLCN (HGNC Symbol)
Synonyms
BHD, MGC17998, MGC23445
Description
Folliculin (HGNC Symbol)
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]
The protein view displays protein features. The tabs at the top of the protein view section can be used to switch between the different splice variants encoded by this gene. The mouse over function displays additional data for the features in the protein view.
At the top of the protein view, the maximum percent sequence identity of the protein to all other proteins from other human genes is shown, using a sliding window of 10 aa residues
(HsID 10) or 50 aa residues (HsID 50) (read more).
If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS,
SignalP 4.0, and
Phobius
(turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.
Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed
(read more), and at the bottom of the protein view is the protein scale.
The protein information section displays the alternative protein-coding transcripts (splice variants) encoded by this gene, according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant.
The data in the UniProt column can be expanded to show links to all matching
UniProt identifiers for this protein.
The protein classes to which this protein has been assigned are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors
SPOCTOPUS,
SignalP 4.0, and
Phobius) and the number of predicted transmembrane region(s) (according to
MDM) are also reported.
Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0005886 [plasma membrane] GO:0007043 [cell-cell junction assembly] 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:0030496 [midbody] 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:0032403 [protein complex binding] 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:0044291 [cell-cell contact zone] 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]
Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0005886 [plasma membrane] GO:0007043 [cell-cell junction assembly] 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:0030496 [midbody] 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:0032403 [protein complex binding] 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:0044291 [cell-cell contact zone] 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]
Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
