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Transforming growth factor, beta receptor II

TGF-beta type II receptor, TbetaRII, TGFBR2, TGFbetaRII, TGF-beta receptor type II
This gene encodes a member of the Ser/Thr protein kinase family and the TGFB receptor subfamily. The encoded protein is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with another receptor protein, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of a subset of genes related to cell proliferation. 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. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: TGF-beta, TGF-beta type I receptor, CAN, HAD, Smad2
Papers on TGF-beta type II receptor
Identification of Gender-Specific Genetic Variants in Patients With Bicuspid Aortic Valve.
Bossé et al., Québec, Canada. In Am J Cardiol, Mar 2016
Nine genes previously associated with BAV (NOTCH1, AXIN1, EGFR, ENG, GATA5, NKX2-5, NOS3, PDIA2, and TGFBR2) were sequenced in 48 patients with BAV using the Ion Torrent Personal Genome Machine.
Deleting the TGF-beta Receptor in Proximal Tubules Impairs HGF Signaling.
Gewin et al., France. In Am J Physiol Renal Physiol, Feb 2016
We showed that deleting the TGF-beta type II receptor in conditionally immortalized proximal tubule cells unexpectedly impaired HGF-dependent signaling.
FGF-2 inhibits Endothelial-Mesenchymal Transition through microRNA-20a-mediated repression of canonical TGF-β Signaling.
Krenning et al., Groningen, Netherlands. In J Cell Sci, Feb 2016
We identified ALK5, TGFBR2 and SARA as direct miR-20a targets.
Cholangiocarcinoma Heterogeneity Revealed by Multigene Mutational Profiling: Clinical and Prognostic Relevance in Surgically Resected Patients.
Guglielmi et al., Verona, Italy. In Ann Surg Oncol, Jan 2016
The presence of mutations in ARID1A, PIK3C2G, STK11, TGFBR2, and TP53 genes was significantly associated with poor prognosis in patients with ICC (p = 0.012, p = 0.030, p = 0.030, p = 0.011, and p = 0.011, respectively).
Approaching a diagnostic point-of-care test for pediatric tuberculosis through evaluation of immune biomarkers across the clinical disease spectrum.
Grewal et al., Drammen, Norway. In Sci Rep, Dec 2015
We identified 12 biomarkers consistently associated with either clinical groups "upstream" towards culture-positive TB on the TB disease spectrum (CD14, FCGR1A, FPR1, MMP9, RAB24, SEC14L1, and TIMP2) or "downstream" towards a decreased likelihood of TB disease (BLR1, CD3E, CD8A, IL7R, and TGFBR2), suggesting a correlation with MTB-related pathology and high relevance to a future POC test for pediatric TB.
Genetics of hereditary large vessel diseases.
Morisaki et al., Ōsaka, Japan. In J Hum Genet, Nov 2015
Genes identified for these diseases include FBN1, TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3, SKI, EFEMP2, COL3A1, FLNA, ACTA2, MYH11, MYLK and SLC2A10, as well as others.
Genetic variation and gastric cancer risk: a field synopsis and meta-analysis.
Nitti et al., Padova, Italy. In Gut, Aug 2015
We identified 11 variants significantly associated with disease risk and assessed to have a high level of summary evidence: MUC1 rs2070803 at 1q22 (diffuse carcinoma subgroup), MTX1 rs2075570 at 1q22 (diffuse), PSCA rs2294008 at 8q24.2 (non-cardia), PRKAA1 rs13361707 5p13 (non-cardia), PLCE1 rs2274223 10q23 (cardia), TGFBR2 rs3087465 3p22 (Asian), PKLR rs3762272 1q22 (diffuse), PSCA rs2976392 (intestinal), GSTP1 rs1695 11q13 (Asian), CASP8 rs3834129 2q33 (mixed) and TNF rs1799724 6p21.3 (mixed), with the first nine variants characterised by a low FPRP.
Microsatellite instability: an update.
Imai et al., Kawasaki, Japan. In Arch Toxicol, Jun 2015
Gene targets of frameshift mutations caused by MSI are involved in various cellular functions, including DNA repair (MSH3 and MSH6), cell signaling (TGFBR2 and ACVR2A), apoptosis (BAX), epigenetic regulation (HDAC2 and ARID1A), and miRNA processing (TARBP2 and XPO5), and a subset of MSI+ CRCs reportedly shows the mutated miRNA machinery phenotype.
Association between the TGFBR2 G-875A polymorphism and cancer risk: evidence from a meta-analysis.
Wang et al., Beijing, China. In Asian Pac J Cancer Prev, 2013
Disrupted transforming growth factor- β (TGF-β) signaling is involved in the development of various types of cancer and the TGF-β receptor II (TGFBR2) is a key mediator of TGF-β growth inhibitory signals.
Loeys-Dietz syndrome.
Loeys et al., Antwerp, Belgium. In Adv Exp Med Biol, 2013
The genetic cause is heterogeneous and includes mutations in genes encoding for components of the transforming growth factor beta (TGFβ) signalling pathway: TGFBR1, TGFBR2, SMAD3 and TGFB2.
Origin and function of myofibroblasts in kidney fibrosis.
Kalluri et al., Houston, United States. In Nat Med, 2013
Specific deletion of Tgfbr2 in α-smooth muscle actin (αSMA)(+) cells revealed the importance of this pathway in the recruitment of myofibroblasts through differentiation.
Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes.
Grimmond et al., Sydney, Australia. In Nature, 2012
We define 16 significantly mutated genes, reaffirming known mutations (KRAS, TP53, CDKN2A, SMAD4, MLL3, TGFBR2, ARID1A and SF3B1), and uncover novel mutated genes including additional genes involved in chromatin modification (EPC1 and ARID2), DNA damage repair (ATM) and other mechanisms (ZIM2, MAP2K4, NALCN, SLC16A4 and MAGEA6).
Small molecule-mediated TGF-β type II receptor degradation promotes cardiomyogenesis in embryonic stem cells.
Mercola et al., Los Angeles, United States. In Cell Stem Cell, 2012
To identify these signals, a mouse embryonic stem cell (ESC)-based differentiation assay was screened against a small molecule library resulting in a 1,4-dihydropyridine inducer of type II TGF-β receptor (TGFBR2) degradation-1 (ITD-1).
Post-translational regulation of TGF-β receptor and Smad signaling.
Derynck et al., San Francisco, United States. In Febs Lett, 2012
TGF-beta family signaling through Smads is conceptually a simple and linear signaling pathway, driven by sequential phosphorylation, with type II receptors activating type I receptors, which in turn activate R-Smads [review]
Structural studies of the TGF-βs and their receptors - insights into evolution of the TGF-β superfamily.
Hinck, San Antonio, United States. In Febs Lett, 2012
analysis of evolution of the TGF-beta superfamily and how they signal through a single pair of receptors, known as TbetaR-I and TbetaR-II [review]
Notch activation on effector T cells increases their sensitivity to Treg cell-mediated suppression through upregulation of TGF-βRII expression.
Levy et al., Créteil, France. In Eur J Immunol, 2012
Results demonstrate that HES (hairy and enhancer of split), the main transcription factor downstream of Notch, induces strong transactivation of TGF-ssRII by binding the TGF-betaRII promoter through its DNA-binding domain.
Genome-wide association analysis identifies susceptibility loci for migraine without aura.
International Headache Genetics Consortium et al., München, Germany. In Nat Genet, 2012
SNPs at two of these loci showed convincing replication: at 1q22 (in MEF2D; replication P = 4.9 × 10(-4); combined P = 7.06 × 10(-11)) and at 3p24 (near TGFBR2; replication P = 1.0 × 10(-4); combined P = 1.17 × 10(-9)).
MicroRNA-590-5p regulates proliferation and invasion in human hepatocellular carcinoma cells by targeting TGF-β RII.
Chen et al., Guangzhou, China. In Mol Cells, 2012
miR-590-5p promotes proliferation and invasion in human hepatocellular carcinoma cells by directly targeting TGF-beta RII. [mir-590-5p]
Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene.
Boduroğlu et al., Ankara, Turkey. In Turk J Pediatr, 2012
We report a 13-year-old girl with Loeys-Dietz syndrome (LDS) caused by a known transforming growth factor beta receptor II (TGFBR2) gene mutation, who developed aortic root dilatation and saccular aneurysm of the internal carotid artery.
PTH battles TGF-beta in bone.
Baron et al., Paris, France. In Nat Cell Biol, 2010
PTH couples the processes of bone resorption and formation by enforcing simultaneous internalization of TGF-beta type II receptor (TbetaRII) and PTH type 1 receptor (PTH1R), which attenuates both TGF-beta and PTH signalling in vivo.
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