FLCN - folliculin Gene

Also Known as BHD; FLCL; DENND8B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 201163

About FLCN

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:17,212,212-17,237,330 (from NCBI)

This gene has 10 transcripts (splice variants), 208 orthologues and is associated with 97 phenotypes. Ubiquitous expression in endometrium (RPKM 9.4), ovary (RPKM 9.3) and 25 other tissues.

Summary

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]

FLCN Products (5)

mRNA	Protein	Name
NM_001353229.2	NP_001340158.1	folliculin isoform 3
NM_001353230.2	NP_001340159.1	folliculin isoform 1
NM_001353231.2	NP_001340160.1	folliculin isoform 1
NM_144606.7	NP_653207.1	folliculin isoform 2
NM_144997.7	NP_659434.2	folliculin isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables GTPase activator activity	IDA IDA: Inferred from direct assay	24095279	GOA
enables enzyme binding	IPI IPI: Inferred from physical interaction	34381247	GOA
enables enzyme inhibitor activity	IDA IDA: Inferred from direct assay	34381247	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17028174	GOA
enables protein-containing complex binding	IDA IDA: Inferred from direct assay	17028174	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in TOR signaling	IMP IMP: Inferred from mutant phenotype	17028174	GOA
involved in cellular response to amino acid starvation	IDA IDA: Inferred from direct assay	24095279	GOA
involved in cellular response to starvation	IDA IDA: Inferred from direct assay	24095279	GOA
involved in intracellular signal transduction	IDA IDA: Inferred from direct assay	21209915	GOA
involved in lysosome localization	IDA IDA: Inferred from direct assay	27113757	GOA
involved in negative regulation of Rho protein signal transduction	IMP IMP: Inferred from mutant phenotype	22965878	GOA
involved in negative regulation of glycolytic process	IDA IDA: Inferred from direct assay	34381247	GOA
involved in negative regulation of lysosome organization	IDA IDA: Inferred from direct assay	37079666	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	21209915	GOA
involved in positive regulation of TOR signaling	IDA IDA: Inferred from direct assay	24081491	GOA
involved in positive regulation of TORC1 signaling	IDA IDA: Inferred from direct assay	32612235	GOA
involved in positive regulation of autophagy	IDA IDA: Inferred from direct assay	25126726	GOA
involved in positive regulation of autophagy	IMP IMP: Inferred from mutant phenotype	25126726	GOA
involved in regulation of Ras protein signal transduction	IDA IDA: Inferred from direct assay	24081491	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of FNIP-folliculin RagC/D GAP	IDA IDA: Inferred from direct assay	32612235	GOA
colocalizes with cell-cell contact zone	IDA IDA: Inferred from direct assay	22965878	GOA
located in centrosome	IDA IDA: Inferred from direct assay	23784378	GOA
located in cilium	IDA IDA: Inferred from direct assay	23784378	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	17028174	GOA
located in cytosol	IDA IDA: Inferred from direct assay	24081491	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	24081491	GOA
colocalizes with midbody	IDA IDA: Inferred from direct assay	22965878	GOA
located in mitotic spindle	IDA IDA: Inferred from direct assay	23784378	GOA
located in nucleus	IDA IDA: Inferred from direct assay	17028174	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FLCN Protein Structure

Folliculin

0
100
200
300
400
500
579 a.a.

Protein Preferred Names	Protein Names
folliculin	BHD skin lesion fibrofolliculoma protein

FLCN Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FLCN	Q8NFG4	FNIP1	Homo sapiens	Q8TF40	Anti Bait CoIP	17028174
Intra	FLCN	Q8NFG4	FNIP2	Homo sapiens	Q9P278	Anti Bait CoIP	18403135
Intra	FLCN	Q8NFG4	FNIP2	Homo sapiens	Q9P278	Pull Down	18403135
Intra	FLCN	Q8NFG4	FNIP2	Homo sapiens	Q9P278	Confocal	18403135

Cross: Cross-species interaction Intra: Intraspecies interaction

FLCN Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P86879	FLCN Antibody (YA6572)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Pneumothorax, Primary Spontaneous	Primary Spontaneous Pneumothorax Spontaneous Pneumothorax Familial Spontaneous Pneumothorax PSP Pneumothorax
Birt-Hogg-Dube Syndrome	Hornstein-Knickenberg Syndrome Fibrofolliculomas With Trichodiscomas And Acrochordons BHD Birt-Hogg-Dubé Syndrome Multiple Fibrofolliculoma Familial Bhd Syndrome Birt Hogg Dube Syndrome Hornstein-Birt-Hogg-Dubé Syndrome Multiple Fibrofolliculomas
Renal Cell Carcinoma, Nonpapillary	Renal Cell Carcinoma RCC Nonpapillary Renal Cell Carcinoma Clear Cell Renal Cell Carcinoma Hypernephroma Adenocarcinoma Of Kidney Renal Carcinoma, Chromophobe, Somatic Clear Cell Carcinoma Of Kidney Clear-Cell Metastatic Renal Cell Carcinoma Clear Cell Renal Carcinoma Renal Cell Carcinoma, Somatic Conventional Renal Cell Carcinoma Conventional Renal Cell Carcinoma Renal Clear Cell Carcinoma Ccrcc Hereditary Clear Cell Renal Cell Carcinoma Carcinoma, Renal Cell Renal Cell Carcinoma, Clear Cell, Somatic Renal Cell Carcinoma, Clear Cell Clear Cell Kidney Carcinoma Clear Cell Rcc Cystic-Multilocular Variant Clear Cell Renal Cell Adenocarcinoma Hereditary Clear Cell Renal Cell Adenocarcinoma Common Renal Cell Carcinoma Crcc Renal Cell Carcinoma Non-Papillary Carcinoma Renal Cell Renal Cell Cancer Carcinoma, Renal Cell, Nonpapillary
Potocki-Lupski Syndrome	PTLS Chromosome 17p11.2 Duplication Syndrome 17p11.2 Microduplication Syndrome Duplication 17p11.2 Syndrome Trisomy 17p11.2 Potocki-Lupski Syndrome (Dup(17)(P11.2p11.2)) 17p11.2 Duplication Syndrome Dup(17)(P11.2p11.2) Pls Chromosome 17, Trisomy 17p11 2
Chromophobe Renal Cell Carcinoma	Chromophobe Adenocarcinoma Chromophobe Carcinoma Of Kidney Kidney Chromophobe Renal Cell Carcinoma, Chromophobe Cell Crcc Chrcc Chromophobe Renal Cell Adenocarcinoma Chromophobe Renal Carcinoma Chromophobe Carcinoma
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Bap1 Tumor Predisposition Syndrome	Bap1-Related Tumor Predisposition Syndrome Common Syndrome Bap1 Cancer Syndrome Bap1-Tpds Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms Tumor Predisposition Syndrome Tumor Susceptibility Linked To Germline Bap1 Mutations Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms Tumor Predisposition
Inherited Cancer-Predisposing Syndrome	Hereditary Cancer-Predisposing Syndrome
Pneumothorax	Pneumothorax Nos Air Leak Nos Pleural Air Leak Nos
Oncocytoma	Oxyphilic Adenoma Follicular Adenoma, Oxyphilic Cell Adenoma, Oxyphilic Hurthle Cell Tumor Oncocytic Neoplasm
Renal Oncocytoma	Oncocytoma, Renal Oncocytoma Of Kidney Renal Epithelial Oncocytic Tumor Oncocytoma Kidney Oncocytoma Renal Kidney Oncocytoma
Pilocytic Astrocytoma	Juvenile Pilocytic Astrocytoma Grade I Astrocytic Tumor Piloid Astrocytoma
Hereditary Renal Cell Carcinoma
Multilocular Clear Cell Renal Cell Carcinoma	Cystadenocarcinoma Of Kidney Renal Cystadenocarcinoma
Collecting Duct Carcinoma	Kidney Medullary Carcinoma Renal Medullary Carcinoma Bdc Bellini Carcinoma Bellini Duct Carcinoma Cdc Collecting Duct Carcinoma Of The Kidney Renal Cell Adenocarcinoma Carcinoma Of Renal Collecting Duct Renal Carcinoma, Collecting Duct Type Renal Cell Carcinoma Bellini'S Duct Carcinoma Renal Collecting Duct Carcinoma Adenocarcinoma Of Kidney
Familial Renal Oncocytoma
Smith-Magenis Syndrome	SMS Chromosome 17p11.2 Deletion Syndrome 17p11.2 Microdeletion Syndrome 17p11.2 Monosomy Chromosome 17p Deletion Syndrome Del(17) P11.2 17p- Syndrome Deletion 17p Syndrome Partial Monosomy 17p
Skin Benign Neoplasm	Neoplasm Of Skin By Site Tumor Of The Skin Skin Tumor Benign Neoplasm Of Skin Skin Neoplasms
Familial Renal Papillary Carcinoma	Hereditary Papillary Renal Carcinoma Papillary Renal Cancer Hereditary
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Polycystic Liver Disease 1 PCLD1 Cyst Liver Disease, Polycystic, Type 1 Polycystic Liver Disease
Kidney Cancer	Renal Cancer Renal Carcinoma Kidney Neoplasm Malignant Neoplasm Of Kidney Except Pelvis Malignant Tumour Of Kidney Kidney Neoplasms Cancer, Kidney Cancer, Renal Malignant Neoplasm Of Kidney Renal Cell Carcinoma
Leiomyoma Cutis	Cutaneous Leiomyoma Leiomyoma Of The Skin
Dermis Tumor	Dermis Tumour Neoplasm Of Dermis Tumor Of Dermis Tumour Of Dermis
Cowden Syndrome 4	CWS4 Cowden Syndrome, Type 4
Pleural Disease	Pleural Diseases Disorder Of Pleura Non-Neoplastic Pleural Disease Pleural Disorders Non-Neoplastic Pleural Disorder
Skin Tag	Fibroepithelial Polyp Fibroepithelial Polyp Of Skin Soft Fibroma Skin Tags Cutaneous Tag Gardner Fibroma Acrochordon Fibroma Molle
Kidney Benign Neoplasm	Renal And Ureteral Tumor Benign Kidney Neoplasm
Cutaneous Leiomyosarcoma	Leiomyosarcoma Of The Skin
Tuberous Sclerosis	Tuberous Sclerosis Syndrome Bourneville'S Disease Epiloia Cerebral Sclerosis Tuberose Sclerosis Tuberous Sclerosis 1 Bourneville Disease Bourneville Phakomatosis Pringle'S Disease
Kidney Angiomyolipoma	Angiomyolipoma Of Kidney Renal Angiomyolipoma
Parathyroid Oncocytic Adenoma	Parathyroid Gland Oncocytic Adenoma
Cowden Syndrome 1	Bannayan-Riley-Ruvalcaba Syndrome Pten Hamartoma Tumor Syndrome Lhermitte-Duclos Disease Bannayan-Zonana Syndrome Phts Riley-Smith Syndrome Bzs Ruvalcaba-Myhre-Smith Syndrome Multiple Hamartoma Syndrome Rmss Brrs Dysplastic Gangliocytoma Of The Cerebellum CWS1 Cs Cd Mham Pten Hamartoma Tumor Syndrome With Granular Cell Tumor Macrocephaly Multiple Lipomas And Hemangiomata Bannayan-Ruvalcaba-Riley Syndrome Myhre-Riley-Smith Syndrome LDD Cerebelloparenchymal Disorder Vi Hamartoma Syndrome, Multiple Bbrs Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata Macrocephaly, Multiple Lipomas, And Hemangiomata Macrocephaly Pseudopapilledema And Multiple Hemangiomas Ruvalcaba -Myhre-Smith Syndrome Ruvalcaba-Myhre Syndrome Cowden Disease Macrocephaly Pseudopapilledema And Multiple Hemangiomata Cerebellar Granule Cell Hypertrophy And Megalencephaly Cpd6 Pten Hamartoma Tumor Syndromes Cowden Syndrome, Type 1
Angiolipoma
Leiomyomatosis
Lung Disease	Lung Diseases Disorder Of Lung Abnormality Of The Lung
Cowden Syndrome	Cowden Disease Multiple Hamartoma Syndrome Cowden'S Disease Lhermitte-Duclos Disease Cd Cs Mham Dysplastic Gangliocytoma Of Cerebellum Cowden'S Syndrome Hamartoma Syndrome, Multiple
Tibial Adamantinoma	Tibial Adamantinoma Morphology
Langerhans Cell Histiocytosis	Histiocytosis X Lch Langerhans Cell Granulomatosis Langerhans-Cell Histiocytosis Letterer-Siwe Disease Hashimoto-Pritzger Disease Histiocytosis, Langerhans-Cell Langerhan'S Cell Histiocytosis Letterer-Siwe Disease Involving Intra-Abdominal Lymph Nodes Letterer-Siwe Disease Involving Intrapelvic Lymph Nodes Letterer-Siwe Disease Involving Intrathoracic Lymph Nodes Letterer-Siwe Disease Involving Lymph Nodes Of Axilla And Upper Limb Letterer-Siwe Disease Involving Lymph Nodes Of Head, Face And Neck Letterer-Siwe Disease Involving Lymph Nodes Of Head, Face, And Neck Letterer-Siwe Disease Involving Lymph Nodes Of Inguinal Region And Lower Limb Letterer-Siwe Disease Involving Lymph Nodes Of Multiple Sites Letterer-Siwe Disease Involving Spleen Letterer-Siwe Disease Of Intra-Abdominal Lymph Nodes Letterer-Siwe Disease Of Intrapelvic Lymph Nodes Letterer-Siwe Disease Of Intrathoracic Lymph Nodes Letterer-Siwe Disease Of Lymph Nodes Of Axilla And Upper Limb Letterer-Siwe Disease Of Lymph Nodes Of Axilla And/Or Upper Limb Letterer-Siwe Disease Of Lymph Nodes Of Head, Face And Neck Letterer-Siwe Disease Of Lymph Nodes Of Head, Face And/Or Neck Letterer-Siwe Disease Of Lymph Nodes Of Inguinal Region Amd/Or Lower Limb Letterer-Siwe Disease Of Lymph Nodes Of Inguinal Region And Lower Limb Letterer-Siwe Disease Of Lymph Nodes Of Inguinal Region And/Or Lower Limb Letterer-Siwe Disease Of Lymph Nodes Of Multiple Sites Letterer-Siwe Disease Of Spleen Familial Letterer-Siwe Disease Langerhans-Cell Histiocytosis Nos
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Disease Vhl Vhl Syndrome VHLS Von Hippel-Lindau Syndrome, Modifier Of Hippel Lindau Syndrome Angiomatosis Retinae Cerebelloretinal Angiomatosis, Familial Hippel-Lindau Disease Familial Cerebelloretinal Angiomatosis Lindau Disease VHLD
Renal Cell Carcinoma, Papillary, 1	Papillary Renal Cell Carcinoma Hereditary Papillary Renal Cell Carcinoma Papillary Renal Cell Carcinoma, Sporadic Papillary Renal Cell Adenocarcinoma RCCP RCCP1 Renal Cell Carcinoma, Papillary Renal Cell Carcinoma, Papillary, 1, Familial And Somatic Chromophil Carcinoma Of Kidney Papillary Kidney Carcinoma Sporadic Papillary Renal Cell Carcinoma Chromophil Renal Cell Carcinoma Papillary Renal Carcinoma, Malignant - Papillary Renal Cell Carcinoma, Bilateral - Papillary Renal Cell Carcinoma, Familial - Papillary Renal Cell Carcinoma, Multiple - Papillary Renal Cell Carcinoma, Sporadic - Renal Adenocarcinoma Chromophil Rcc Hprcc Renal Cell Carcinoma Papillary Chromophilic Renal Cell Carcinoma Prcc Carcinoma, Renal Cell, Papillary, Type 1 Type 1 Papillary Renal Cell Carcinoma Renal Cell Carcinoma Hereditary Papillary Renal Carcinoma
Cystic Kidney Disease	Renal Cyst Simple Renal Cyst Kidney Cysts Kidney Diseases, Cystic Renal Cysts Kidney Cyst Cystic Kidney Congenital Cystic Kidney Disease Cystic Kidney Diseases Bosniak 1 Cyst
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04974	FLCN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21342	Flcn Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27861	Flcn Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	FLCN	MGD	MGI:2442184
Macaca mulatta	FLCN	VGNC	VGNC:97770
Felis catus	FLCN	VGNC	VGNC:99058
Rattus norvegicus	FLCN	RGD	RGD:735088
Canis familiaris	FLCN	VGNC	VGNC:101442
Bos taurus	FLCN	VGNC	VGNC:101448
Others	FLCN	NCBI