FLCN - folliculin Gene

Homo sapiens

Also known as BHD; FLCL; DENND8B

Gene ID: 201163 | Gene type: protein coding

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

FLCN Protein Structure

Folliculin

0
100
200
300
400
500
579 a.a.

Protein Preferred Names

Protein Names

folliculin

BHD skin lesion fibrofolliculoma protein

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04974	FLCN Human Pre-designed siRNA Set A	Pre-designed Sets	/	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