Gene: FLCN
Alternate names for this Gene: BHD|DENND8B|FLCL
Gene 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.
Gene is located in Chromosome: 17
Location in Chromosome : 17p11.2
Description of this Gene: folliculin
Type of Gene: protein-coding
Gene: MPRIP
Alternate names for this Gene: M-RIP|MRIP|RHOIP3|RIP3|p116Rip
Gene Summary:
Gene is located in Chromosome: 17
Location in Chromosome : 17p11.2
Description of this Gene: myosin phosphatase Rho interacting protein
Type of Gene: protein-coding
rs137852929 in
FLCN;MPRIP gene and
Multiple fibrofolliculomas
PMID 12204536 2002 Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome.
PMID 15852235 2005 Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.
PMID 18234728 2008 BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.
PMID 25519458 2014 Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study.
PMID 28869776 2018 Cutaneous melanoma in Birt-Hogg-Dubé syndrome: part of the clinical spectrum?
PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
PMID 24319509 2013 Canadian guideline on genetic screening for hereditary renal cell cancers.
PMID 22679611 2012 Birt-Hogg-Dubé syndrome: report of a new mutation.
PMID 21538689 2011 Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.
PMID 23364595 2013 The Case ; Bilateral kidney tumors and lung cysts.
PMID 27356891 2016 Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.
PMID 23848572 2014 An oncocytic adrenal tumour in a patient with Birt-Hogg-Dubé syndrome.
PMID 19802896 2010 A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.
PMID 18794106 2008 Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN.
PMID 20618353 2011 Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations.
PMID 28558743 2017 Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome.
PMID 19457309 2009 [Birt-Hogg-Dubé syndrome in a patient with cutaneous symptoms and a c.1429 C > T;p.R477X mutation in exon 12 of the folliculin gene].
PMID 24393238 2014 Characterization of pulmonary cysts in Birt-Hogg-Dubé syndrome: histopathological and morphometric analysis of 229 pulmonary cysts from 50 unrelated patients.
rs137852929 in
FLCN;MPRIP gene and
Neoplastic Syndromes, Hereditary
PMID 23784378 2013 Birt-Hogg-Dube syndrome is a novel ciliopathy.
PMID 15852235 2005 Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.
PMID 12204536 2002 Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome.
PMID 18234728 2008 BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.
PMID 22679611 2012 Birt-Hogg-Dubé syndrome: report of a new mutation.
PMID 27356891 2016 Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.
PMID 28151982 2017 Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans.
PMID 23848572 2014 An oncocytic adrenal tumour in a patient with Birt-Hogg-Dubé syndrome.
PMID 18794106 2008 Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN.
PMID 21506000 2011 Abstracts of the Third Birt-Hogg-Dubé Symposium. Maastricht, The Netherlands. May 11-12th, 2011.
PMID 25594584 2015 Distinctive expression patterns of glycoprotein non-metastatic B and folliculin in renal tumors in patients with Birt-Hogg-Dubé syndrome.
PMID 28558743 2017 Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome.
PMID 20618353 2011 Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations.
PMID 19457309 2009 [Birt-Hogg-Dubé syndrome in a patient with cutaneous symptoms and a c.1429 C > T;p.R477X mutation in exon 12 of the folliculin gene].
PMID 15805188 2005 Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults.
rs137852929 in
FLCN;MPRIP gene and
PNEUMOTHORAX, PRIMARY SPONTANEOUS
PMID 15852235 2005 Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.
PMID 23784378 2013 Birt-Hogg-Dube syndrome is a novel ciliopathy.
PMID 25126726 2014 FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation.