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Gene: FLCN (folliculin) Homo sapiens
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Symbol: FLCN
Name: folliculin
Description: Exhibits GTPase activator activity. Involved in several processes, including TOR signaling; regulation of signal transduction; and regulation of transcription by RNA polymerase II. Localizes to several cellular components, including cilium; lysosomal membrane; and microtubule cytoskeleton. Colocalizes with cell-cell contact zone and midbody. Implicated in Birt-Hogg-Dube syndrome; colorectal cancer; primary spontaneous pneumothorax; and renal cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BHD; BHD skin lesion fibrofolliculoma protein; birt-Hogg-Dube syndrome protein; DENND8B; DKFZp547A118; FLCL; FLJ45004; FLJ99377; MGC17998; MGC23445
Orthologs:
Mus musculus (house mouse) : Flcn (folliculin)  MGI  Alliance
Rattus norvegicus (Norway rat) : Flcn (folliculin)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Flcn (folliculin)
Pan paniscus (bonobo/pygmy chimpanzee) : FLCN (folliculin)
Canis lupus familiaris (dog) : FLCN (folliculin)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Flcn (folliculin)
Sus scrofa (pig) : FLCN (folliculin)
Chlorocebus sabaeus (African green monkey) : FLCN (folliculin)
Heterocephalus glaber (naked mole-rat) : Flcn (folliculin)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1717,212,212 - 17,237,188 (-)EnsemblGRCh38hg38GRCh38
GRCh381717,206,946 - 17,237,188 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371717,115,523 - 17,140,502 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361717,056,251 - 17,081,221 (-)NCBINCBI36hg18NCBI36
Celera1718,055,113 - 18,080,089 (-)NCBI
Cytogenetic Map17p11.2NCBI
HuRef1716,868,444 - 16,893,256 (-)NCBIHuRef
CHM1_11717,125,252 - 17,150,222 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
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Phenotype Annotations
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References - uncurated

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