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Tbio
FLCN
Folliculin

Protein Summary
Description
May be a tumor suppressor. May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways. May regulate phosphorylation of RPS6KB1. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000285071
  • ENSP00000285071
  • ENSG00000154803
  • ENST00000389169
  • ENSP00000373821

Symbol
  • BHD
  • BHD
  • FLCL
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological process
0.99
disease perturbation
0.96
histone modification site profile
0.92
interacting protein
0.81
transcription factor binding site profile
0.81


Related Tools
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 516.07   (req: < 5)
Gene RIFs: 77   (req: <= 3)
Antibodies: 285   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 516.07   (req: >= 5)
Gene RIFs: 77   (req: > 3)
Antibodies: 285   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 32
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (8)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
heel bone mineral density
2
2
2
74
mean reticulocyte volume
1
1
1
72.2
hemoglobin measurement
1
1
1
49.5
neutrophil percentage of leukocytes
1
1
1
31.4
mean corpuscular volume
1
1
1
24.4
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
heel bone mineral density
2
74
mean reticulocyte volume
1
72.2
hemoglobin measurement
1
49.5
neutrophil percentage of leukocytes
1
31.4
mean corpuscular volume
1
24.4
Orthologs (14)
1 – 5 of 14
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Macaque
folliculin
698082
Mouse
MGI:2442184
216805
Rat
RGD:735088
303185
Dog
folliculin
479529
Horse
folliculin
100052790
Species
Name
OMA
EggNOG
Inparanoid
Macaque
folliculin
Mouse
Rat
Dog
folliculin
Horse
folliculin
Protein Structure (1 Structure, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-Q8NFG4-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 1 of 1
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Protein-Protein Interactions (107)
1 – 10 of 107
WDFY3
Tbio
Novelty:  0.01670166
p_int:  0.999998606
p_ni:  0.000001394
Score:  0.185
Data Source:  BioPlex,STRINGDB
CTAG2
Tbio
Novelty:  0.02983879
p_int:  0.999997128
p_ni:  0.000002871
p_wrong:  1e-9
Data Source:  BioPlex
FAM120B
Tbio
Novelty:  0.07982799
p_int:  0.999993764
p_ni:  0.000006236
Score:  0.239
Data Source:  BioPlex,STRINGDB
DPEP1
Tclin
Family:  Enzyme
Novelty:  0.00384946
p_int:  0.999988829
p_ni:  0.000011171
Data Source:  BioPlex
LDLRAD4
Tbio
Novelty:  0.04881486
p_int:  0.99998583
p_ni:  0.000010144
p_wrong:  0.000004026
Score:  0.202
Data Source:  BioPlex,STRINGDB
AGAP3
Tbio
Family:  Enzyme
Novelty:  0.15649084
p_int:  0.999979025
p_ni:  0.000020975
Score:  0.188
Data Source:  BioPlex,STRINGDB
POLR3K
Tbio
Family:  Enzyme
Novelty:  0.07105011
p_int:  0.999963344
p_ni:  0.000036652
p_wrong:  4e-9
Data Source:  BioPlex
SEMA4C
Tbio
Novelty:  0.01237067
p_int:  0.999684493
p_ni:  0.000306398
p_wrong:  0.000009109
Data Source:  BioPlex
AGAP1
Tbio
Family:  Enzyme
Novelty:  0.06776705
p_int:  0.998869253
p_ni:  0.000903203
p_wrong:  0.000227544
Score:  0.188
Data Source:  BioPlex,STRINGDB
CTAG1A
Tbio
Novelty:  0.00345306
p_int:  0.99859578
p_ni:  0.000995135
p_wrong:  0.000409086
Data Source:  BioPlex
Publication Statistics
PubMed Score  516.07

PubMed score by year
PubTator Score  239.31

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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