Contents

TGF beta receptor 2

Protein-coding gene in the species Homo sapiens

TGFBR2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1KTZ, 1M9Z, 1PLO, 2PJY, 3KFD, 4P7U, 4XJJ, 5E92, 5E91, 5E8V, 5E8Y
Identifiers
Aliases	TGFBR2, AAT3, FAA3, LDS1B, LDS2, LDS2B, MFS2, RIIC, TAAD2, TGFR-2, TGFbeta-RII, transforming growth factor beta receptor 2, TBR-ii, TBRII
External IDs	OMIM: 190182; MGI: 98729; HomoloGene: 2435; GeneCards: TGFBR2; OMA:TGFBR2 - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3p24.1 Start 30,606,601 bp[1] End 30,694,142 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9 F3|9 68.39 cM Start 115,913,361 bp[2] End 116,004,428 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pericardium tibia parietal pleura epithelium of colon lower lobe of lung visceral pleura vena cava superficial temporal artery cardiac muscle tissue of right atrium synovial joint Top expressed in left lung lobe gastrula calvaria decidua lymph node stroma of bone marrow sciatic nerve endothelial cell of lymphatic vessel mesenteric lymph nodes molar More reference expression data BioGPS More reference expression data
Gene ontology Molecular function 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 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 Cellular component cytoplasm cytosol membrane caveola cell surface membrane raft integral component of membrane receptor complex plasma membrane integral component of plasma membrane external side of plasma membrane Biological process 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 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 response to organic cyclic compound trachea morphogenesis human ageing 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 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
Orthologs Species Human Mouse Entrez 7048 21813 Ensembl ENSG00000163513 ENSMUSG00000032440 UniProt P37173 Q62312 RefSeq (mRNA) NM_001024847 NM_003242 NM_009371 NM_029575 RefSeq (protein) NP_001020018 NP_003233 NP_033397 NP_083851 Location (UCSC) Chr 3: 30.61 – 30.69 Mb Chr 9: 115.91 – 116 Mb PubMed search [3] [4]
Wikidata
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Transforming growth factor, beta receptor II (70/80kDa) is a TGF beta receptor. TGFBR2 is its human gene.

It is a tumor suppressor gene.^[5]

Function[edit]

This gene encodes a member of the serine/threonine 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, Osler–Weber–Rendu syndrome, and the development of various types of tumors. At least 73 disease-causing mutations in this gene have been discovered.^[6] Alternatively spliced transcript variants encoding different isoforms have been characterized.^[7]

Interactions[edit]

TGF beta receptor 2 has been shown to interact with:

Domain architecture[edit]

Transforming growth factor beta receptor 2 ectodomain
crystal structure of human tgf-beta type ii receptor ligand binding domain
Identifiers
Symbol	ecTbetaR2
Pfam	PF08917
InterPro	IPR015013
Available protein structures: Pfam   structures / ECOD   PDB RCSB PDB; PDBe; PDBj PDBsum structure summary

TGF beta receptor 2 consists of a C-terminal protein kinase domain and an N-terminal ectodomain. The ectodomain consists of a compact fold containing nine beta-strands and a single helix stabilised by a network of six intra strand disulphide bonds. The folding topology includes a central five-stranded antiparallel beta-sheet, eight-residues long at its centre, covered by a second layer consisting of two segments of two-stranded antiparallel beta-sheets (beta1-beta4, beta3-beta9).^[18]

See also[edit]

• TGF beta receptors

References[edit]

External links[edit]

• GeneReviews/NIH/NCBI/UW entry on Thoracic Aortic Aneurysms and Aortic Dissections