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

• Q8NFG4
• A6NJJ8
• Q6ZRX1
• Q96BD2
• Q96BE4

Gene Name

• FLCN

Ensembl ID

• ENST00000285071
• ENSP00000285071
• ENSG00000154803
• ENST00000389169
• ENSP00000373821

Symbol

• BHD
• BHD
• FLCL

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)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

Go To Tool

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.

Go To Tool

GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

Go To Tool

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)

• Explore on Target Illumination GWAS Analytics (TIGA)

Items per page:

5

1 – 5 of 8

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
heel bone mineral density	EFO_0009270	2	2	2		74
mean reticulocyte volume	EFO_0010701	1	1	1		72.2
hemoglobin measurement	EFO_0004509	1	1	1		49.5
neutrophil percentage of leukocytes	EFO_0007990	1	1	1		31.4
mean corpuscular volume	EFO_0004526	1	1	1		24.4

• Explore on Target Illumination GWAS Analytics (TIGA)

Items per page:

5

1 – 5 of 8

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
heel bone mineral density	EFO_0009270	2		74
mean reticulocyte volume	EFO_0010701	1		72.2
hemoglobin measurement	EFO_0004509	1		49.5
neutrophil percentage of leukocytes	EFO_0007990	1		31.4
mean corpuscular volume	EFO_0004526	1		24.4

Reset Zoom  Beta Count   Odds Ratio

Orthologs (14)

1 – 5 of 14

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Macaque	folliculin		698082
Mouse	folliculin	MGI:2442184	216805
Rat	folliculin	RGD:735088	303185
Dog	folliculin		479529
Horse	folliculin		100052790

Species	Name	OMA	EggNOG	Inparanoid
Macaque	folliculin
Mouse	folliculin
Rat	folliculin
Dog	folliculin
Horse	folliculin

Protein Structure (1 Structure, 1 AlphaFold Model)

tutorial

Representation

  axes   backbone   ball+stick   cartoon   rocket   rope   spacefill

Color Scheme

  target   atomindex   bfactor   chainname   electrostatic   element   hydrophobicity   resname   sstruc

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

Pathways (2)

KEGG (2)

Find Similar Targets

Items per page:

5

1 – 2 of 2

Data Source	Name	Explore in Pharos	Explore in Source
KEGG	mTOR signaling pathway	152 targets	path:hsa04150
KEGG	Renal cell carcinoma	68 targets	path:hsa05211

Name	Explore in Pharos	Explore in Source
mTOR signaling pathway	152 targets	path:hsa04150
Renal cell carcinoma	68 targets	path:hsa05211

Gene Ontology Terms (38)

Functions (2)

Components (6)

Processes (30)

Find Similar Targets

Items per page:

10

1 – 2 of 2

GO Term	Evidence	Assigned by
protein-containing complex binding	Inferred from Direct Assay (IDA)	UniProtKB
guanyl-nucleotide exchange factor activity	Inferred from Electronic Annotation (IEA)	InterPro

Protein-Protein Interactions (107)

Explore Interacting Targets

1 – 10 of 107

• See Interactions on String-DB

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

Reset Zoom

PubTator Score  239.31

PubTator score by year

Reset Zoom

Amino Acid Sequence

Residue Counts

Protein Sequence

Show Full Sequence

ProtVista Viewer

Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Alternative splicing
Coiled coil
Complete proteome
Cytoplasm
Disease mutation
Nucleus
Phosphoprotein
Reference proteome
Tumor suppressor

GWAS Trait Find Similar Targets

No Header	No Header
glomerular filtration rate
heel bone mineral density
hemoglobin measurement
mean corpuscular volume
mean reticulocyte volume
neutrophil percentage of leukocytes
reticulocyte count
serum alanine aminotransferase measurement

MGI Phenotype Find Similar Targets

No Header	No Header
cardiovascular system phenotype
cellular phenotype
embryo phenotype
growth/size/body region phenotype
hematopoietic system phenotype
homeostasis/metabolism phenotype
immune system phenotype
mortality/aging
neoplasm
renal/urinary system phenotype