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
	7048
	n/a
	ENSG00000163513
	n/a
	P37173
	n/a
	NM_001024847; NM_003242
	n/a
	NP_001020018; NP_003233
	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.^[2]

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.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] TGFBR2 - Cronfa NCBI

[1]

[2]