TGFBR2

TGFBR2
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1KTZ, 1M9Z, 1PLO, 2PJY, 3KFD, 4P7U, 4XJJ, 5E92, 5E91, 5E8V, 5E8Y
Dynodwyr
Cyfenwau	TGFBR2, AAT3, FAA3, LDS1B, LDS2, LDS2B, MFS2, RIIC, TAAD2, TGFR-2, TGFbeta-RII, transforming growth factor beta receptor 2, TBR-ii, TBRII
Dynodwyr allanol	OMIM: 190182 HomoloGene: 2435 GeneCards: TGFBR2
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • transforming growth factor beta-activated receptor activity • kinase activity • ATP binding • type III transforming growth factor beta receptor binding • protein kinase activity • transforming growth factor beta receptor activity, type II • metal ion binding • protein serine/threonine kinase activity • transferase activity • type I transforming growth factor beta receptor binding • mitogen-activated protein kinase kinase kinase binding • GO:0001948, GO:0016582 protein binding • SMAD binding • nucleotide binding • glycosaminoglycan binding • transforming growth factor beta binding • transmembrane receptor protein serine/threonine kinase activity • signaling receptor activity • growth factor binding Cydrannau o'r gell • cytoplasm • cytosol • bilen • caveola • cell surface • membrane raft • integral component of membrane • receptor complex • Cellbilen • integral component of plasma membrane • external side of plasma membrane Prosesau biolegol • growth plate cartilage development • response to cholesterol • lens fiber cell apoptotic process • response to steroid hormone • positive regulation of T cell tolerance induction • receptor-mediated endocytosis • response to organic substance • vasculogenesis • protein phosphorylation • positive regulation of B cell tolerance induction • positive regulation of reactive oxygen species metabolic process • blood vessel development • positive regulation of mesenchymal cell proliferation • animal organ regeneration • animal organ morphogenesis • transforming growth factor beta receptor signaling pathway • embryo implantation • negative regulation of cell population proliferation • GO:0097285 apoptotic process • pathway-restricted SMAD protein phosphorylation • common-partner SMAD protein phosphorylation • bronchus morphogenesis • lung development • response to mechanical stimulus • positive regulation of epithelial cell migration • in utero embryonic development • negative regulation of transforming growth factor beta receptor signaling pathway • heart development • cartilage development • positive regulation of tolerance induction to self antigen • branching involved in blood vessel morphogenesis • positive regulation of skeletal muscle tissue regeneration • smoothened signaling pathway • negative regulation of cardiac muscle cell proliferation • Notch signaling pathway • cell differentiation • phosphorylation • response to nutrient • mammary gland morphogenesis • wound healing • response to glucose • positive regulation of epithelial to mesenchymal transition • positive regulation of angiogenesis • response to estrogen • gastrulation • regulation of gene expression • embryonic cranial skeleton morphogenesis • peptidyl-threonine phosphorylation • trachea formation • lung lobe morphogenesis • positive regulation of smooth muscle cell proliferation • lung morphogenesis • GO:1904578 response to organic cyclic compound • trachea morphogenesis • GO:0010260 heneiddio • myeloid dendritic cell differentiation • bronchus development • brain development • transmembrane receptor protein serine/threonine kinase signaling pathway • lens development in camera-type eye • regulation of cell population proliferation • GO:0035404 peptidyl-serine phosphorylation • positive regulation of cell population proliferation • embryonic hemopoiesis • growth plate cartilage chondrocyte growth • regulation of growth • positive regulation of NK T cell differentiation • digestive tract development • activation of protein kinase activity • response to hypoxia • heart looping • outflow tract septum morphogenesis • membranous septum morphogenesis • outflow tract morphogenesis • atrioventricular valve morphogenesis • tricuspid valve morphogenesis • cardiac left ventricle morphogenesis • endocardial cushion fusion • ventricular septum morphogenesis • positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation • cell proliferation involved in endocardial cushion morphogenesis • positive regulation of CD4-positive, alpha-beta T cell proliferation • superior endocardial cushion morphogenesis • inferior endocardial cushion morphogenesis • miRNA transport • secondary palate development • pattern specification process Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	7048	n/a
Ensembl	ENSG00000163513	n/a
UniProt	P37173	n/a
RefSeq (mRNA)	NM_001024847 NM_003242	n/a
RefSeq (protein)	NP_001020018 NP_003233	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn TGFBR2 yw TGFBR2 a elwir hefyd yn Transforming growth factor beta receptor 2 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 3, band 3p24.1.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn TGFBR2.

• AAT3
• FAA3
• LDS2
• MFS2
• RIIC
• LDS1B
• LDS2B
• TAAD2
• TBRII
• TBR-ii
• TGFR-2
• TGFbeta-RII

Llyfryddiaeth

• "Functional validation reveals the novel missense V419L variant in TGFBR2associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signaling. ". Cold Spring Harb Mol Case Stud. 2017. PMID 28679693.
• "Transforming Growth Factor Beta-2 Mutations in Barlow's Disease and Aortic Dilatation. ". Ann Thorac Surg. 2017. PMID 28633253.
• "TGFBR2-dependent alterations of exosomal cargo and functions in DNA mismatch repair-deficient HCT116 colorectal cancer cells. ". Cell Commun Signal. 2017. PMID 28376875.
• "Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation. ". Eur J Med Genet. 2017. PMID 28344185.
• "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.". PLoS One. 2017. PMID 28182693.