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

Protein Classes

No PANTHER Classes or DTO Classes found

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

Expression Data (0 Tissues)

tutorial

No expression data found

Protein Sequence and Structure

Residue Counts

Protein Sequence

Find Targets by Sequence

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Related Tools (4)

Target Illumination GWAS Analytics (TIGA)

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

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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.

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GlyGen

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

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

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

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (2)

KEGG (2)

Find Similar Targets

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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

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (38)

Functions (2)

Components (6)

Processes (30)

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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

Disease Associations (null)

No disease associations found

GWAS Traits (8)

• Explore on Target Illumination GWAS Analytics (TIGA)

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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

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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

IDG Resources

No IDG generated resources found

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

Publication Statistics

PubMed Score 516.07

PubMed score by year

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PubTator Score 239.31

PubTator score by year

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Related Publications

Text Mined References (93)

GeneRif Annotations (77)

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10

0 of 0

PMID	Year	Title