Gene: TGFBR2

Alternate names for this Gene: AAT3|FAA3|LDS1B|LDS2|LDS2B|MFS2|RIIC|TAAD2|TBR-ii|TBRII|TGFR-2|TGFbeta-RII

Gene Summary: The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta receptor type-1, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of genes related to cell proliferation, cell cycle arrest, wound healing, immunosuppression, and tumorigenesis. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized.

Gene is located in Chromosome: 3

Location in Chromosome : 3p24.1

Description of this Gene: transforming growth factor beta receptor 2

Type of Gene: protein-coding

rs1553630457 in TGFBR2 gene and Aneurysm of aortic root PMID 28344185 2017 Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

rs104893807 in TGFBR2 gene and Aortic aneurysm, familial thoracic 3 PMID 15731757 2005 A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

PMID 20101701 2010 Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 19533785 2009 Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.

PMID 21949523 2011 A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene.

PMID 15235604 2004 Heterozygous TGFBR2 mutations in Marfan syndrome.

PMID 20358619 2010 Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome.

PMID 16251899 2006 Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.

PMID 16027248 2005 Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 22113417 2012 Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.

PMID 19883511 2009 Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.

PMID 28344185 2017 Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

rs1553630457 in TGFBR2 gene and Bilateral talipes equinovarus PMID 28344185 2017 Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

rs3773643 in TGFBR2 gene and Blood Pressure PMID 17903302 2007 Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.

rs1553630457 in TGFBR2 gene and Blue sclera PMID 28344185 2017 Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

rs12493607 in TGFBR2 gene and Breast Carcinoma PMID 25751625 2015 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.

PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs34833812 in TGFBR2 gene and COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6 PMID 9590282 1998 HNPCC associated with germline mutation in the TGF-beta type II receptor gene.

rs1553630221 in TGFBR2 gene and Dysmorphic features PMID 15731757 2005 A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

PMID 16928994 2006 Aneurysm syndromes caused by mutations in the TGF-beta receptor.

PMID 26724507 2016 A Decade of Discovery in the Genetic Understanding of Thoracic Aortic Disease.

PMID 24793577 2014 The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD).

PMID 21593863 2011 Lessons on the pathogenesis of aneurysm from heritable conditions.

PMID 21098638 2010 Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity.

rs104893809 in TGFBR2 gene and Familial thoracic aortic aneurysm and aortic dissection PMID 18781618 2008 Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.

PMID 20829218 2011 Epigenetic control of vascular smooth muscle cells in Marfan and non-Marfan thoracic aortic aneurysms.

PMID 15235604 2004 Heterozygous TGFBR2 mutations in Marfan syndrome.

PMID 18827873 2008 The many faces of aggressive aortic pathology: Loeys-Dietz syndrome.

PMID 23103230 2012 In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

PMID 15731757 2005 A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

PMID 21098638 2010 Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity.

PMID 21267002 2011 Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?

PMID 25644172 2015 Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

PMID 19542084 2009 Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.

PMID 27508510 2016 Increased Prevalence of Inflammatory Bowel Disease in Patients with Mutations in Genes Encoding the Receptor Subunits for TGFβ.

PMID 16251899 2006 Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.

PMID 16027248 2005 Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.

PMID 19159394 2009 Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations.

PMID 16799921 2006 TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.

PMID 19996017 2009 Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.

PMID 20956634 2011 Multiple facial milia in patients with Loeys-Dietz syndrome.

PMID 22488992 2012 Loeys-Dietz syndrome presenting as respiratory distress due to pulmonary artery dilation.

PMID 25116393 2014 Overexpression of Gremlin-1 in patients with Loeys-Dietz syndrome: implications on pathophysiology and early disease detection.

PMID 16928994 2006 Aneurysm syndromes caused by mutations in the TGF-beta receptor.

PMID 17935258 2008 A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2.

PMID 17652900 2007 Phenotypic heterogeneity of Marfan-like connective tissue disorders associated with mutations in the transforming growth factor-beta receptor genes.

PMID 18084123 2007 A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation.

PMID 22113417 2012 Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.

PMID 20838339 2010 The Loeys-Dietz syndrome: an update for the clinician.

PMID 28225382 2017 Extreme phenotypes of Loeys Dietz syndrome.

PMID 30675029 2019 Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.

PMID 27879313 2016 International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).

PMID 23884466 2013 TGFβ receptor mutations impose a strong predisposition for human allergic disease.

PMID 24792536 2014 Primary peripheral retinal nonperfusion in a family with Loeys-Dietz syndrome.

PMID 22259224 2012 Genotype-phenotype analysis of F-helix mutations at the kinase domain of TGFBR2, including a type 2 Marfan syndrome familial study.

PMID 22095581 2012 Low bone mass and high material bone density in two patients with Loeys-Dietz syndrome caused by transforming growth factor beta receptor 2 mutations.

PMID 19006214 2008 Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome.

rs1553630457 in TGFBR2 gene and Hand clenching PMID 28344185 2017 Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

rs1553630457 in TGFBR2 gene and Hernia, Inguinal PMID 28344185 2017 Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

rs76495833 in TGFBR2 gene and Impaired cognition PMID 26252872 2015 Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aβ1-42 Level.

rs104893810 in TGFBR2 gene and Loeys-Dietz Syndrome PMID 18781618 2008 Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.

PMID 15731757 2005 A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

PMID 17330129 2007 Severe aortic and arterial aneurysms associated with a TGFBR2 mutation.

PMID 23884466 2013 TGFβ receptor mutations impose a strong predisposition for human allergic disease.

PMID 21098638 2010 Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity.

PMID 16928994 2006 Aneurysm syndromes caused by mutations in the TGF-beta receptor.

PMID 17935258 2008 A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2.

PMID 22113417 2012 Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.

PMID 27879313 2016 International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).

PMID 18084123 2007 A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation.

PMID 21267002 2011 Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?

PMID 16799921 2006 TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.

PMID 24220024 2013 We report a 7-year-old Japanese boy with Loeys-Dietz syndrome who carried a novel, de novo missense mutation in TGFBR2 (c.1142g > c, R381P).

PMID 16835936 2006 Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.

PMID 16283890 2005 Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome.

PMID 22095581 2012 Low bone mass and high material bone density in two patients with Loeys-Dietz syndrome caused by transforming growth factor beta receptor 2 mutations.

PMID 28182693 2017 Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing.

PMID 22772377 2013 Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.

PMID 18852674 2009 Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome (LDS).

rs10212320 in TGFBR2 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs12493607 in TGFBR2 gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs1553630221 in TGFBR2 gene and Muscle hypotonia PMID 24793577 2014 The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD).

PMID 21098638 2010 Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity.

PMID 16928994 2006 Aneurysm syndromes caused by mutations in the TGF-beta receptor.

PMID 21593863 2011 Lessons on the pathogenesis of aneurysm from heritable conditions.

PMID 15731757 2005 A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

PMID 26724507 2016 A Decade of Discovery in the Genetic Understanding of Thoracic Aortic Disease.

rs1553630457 in TGFBR2 gene and Orbital separation excessive PMID 28344185 2017 Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

rs10212320 in TGFBR2 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs3773643 in TGFBR2 gene and Tonometry PMID 17903302 2007 Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.

rs1553630457 in TGFBR2 gene and Uranostaphyloschisis PMID 28344185 2017 Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.