|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
BHD
Birt-Hogg-Dubé syndrome gene
|
|
gptkbp:associatedWith
|
gptkb:spontaneous_pneumothorax
gptkb:Birt-Hogg-Dubé_syndrome
renal cell carcinoma
fibrofolliculomas
lung cysts
|
|
gptkbp:discoveredBy
|
Nickerson et al.
|
|
gptkbp:discoveredIn
|
2002
|
|
gptkbp:encodes
|
folliculin protein
|
|
gptkbp:Entrez_Gene_ID
|
201163
|
|
gptkbp:expressedIn
|
gptkb:cancer
gptkb:skin
gptkb:kidney
|
|
gptkbp:function
|
tumor suppressor
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
HGNC:20458
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
FLCN gene
|
|
gptkbp:interactsWith
|
gptkb:Rag_GTPases
gptkb:AMPK
gptkb:mTORC1
gptkb:TFEB
TFE3
FNIP1
FNIP2
|
|
gptkbp:involvedIn
|
gptkb:mTOR_signaling_pathway
cell growth regulation
energy sensing
|
|
gptkbp:length
|
14 exons
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_17
17p11.2
|
|
gptkbp:mutationAssociatedWith
|
germline mutation
missense mutation
nonsense mutation
frameshift mutation
hereditary cancer predisposition
|
|
gptkbp:OMIM
|
607273
|
|
gptkbp:orthologIn
|
FLCN
|
|
gptkbp:orthologInFruitFly
|
CG17369
|
|
gptkbp:orthologInMouse
|
Flcn
|
|
gptkbp:orthologInYeast
|
LST7
|
|
gptkbp:orthologInZebrafish
|
flcn
|
|
gptkbp:product
|
folliculin
|
|
gptkbp:regulates
|
cell proliferation
cell migration
autophagy
cell adhesion
cell metabolism
AMPK activity
mTORC1 activity
|
|
gptkbp:UniProtID
|
Q8NFG4
|
|
gptkbp:bfsParent
|
gptkb:Birt-Hogg-Dubé_syndrome
|
|
gptkbp:bfsLayer
|
7
|