TGFBR2


Also found in: Acronyms.

TGFBR2

A gene on chromosome 3p22 that encodes a transmembrane kinase of the TGFB receptor subfamily of Ser/Thr protein kinases, which forms a heteromer with type-I TGF-beta receptors and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which enter the nucleus and regulate transcription of cell proliferation-related genes.

Molecular pathology
TGFBR2 mutations are associated with Marfan syndrome, Loeys-Deitz aortic aneurysm syndrome and development of various tumours.
References in periodicals archive ?
Then, TGFBR2, CDKN1B, KRAS, E2F3, TRAF6, and CHUK were also selected as our target molecules.
Mutations in either TGFBR1 or TGFBR2 predispose patients to aggressive and widespread vascular disease.
EPOR, MAPK14, BCL2L1, KRT18, PTPN6, CASP3, TGFBR2, AR, and CASP7 were genes in the five motifs with the highest SMD scores, and some of them are already known to be gastric cancer related.
Occasionally, mutations in TGFBR1, TGFBR2, or FBN1 are found in families that have increased incidence of TAAD [5].
Bag dokusunda eksprese edilen fibrilini kodlayan FBN1 ile TGF-beta reseptorlerini kodlayan TGFBR2 genlerinde otozomal dominant kalitim ozelligi gosteren mutasyonlarla ortaya cikar, ancak onemli bir kismi de novo mutasyonlarla olusur.
LDS is caused by heterozygous mutations in genes encoding transforming growth factor (3 receptors 1 and 2 (TGFBR1 and TGFBR2).
Conditional inactivation of Tgfbr2 in cranial neural crest causes cleft palate and calvaria defects.
Digging deeper, they determined that miR-93 and miR-106b target two proteins called Tgfbr2 and p21, which slow up the path to iPS cells by halting the cell cycle - the cell's process of duplicating its DNA and dividing into two identical "daughter" cells - and promoting cell death.
(41) The MFS phenotype can be caused by mutations in both FBN1 and TGFBR2 (type II transforming growth factor beta receptor).
The analysis was performed using NGS for 9 genes (KRAS, GNAS, TP53, SMAD4, CDKN2A, RNF43, TGFBR2, BRAF, and PIK3CA) and digital PCR to evaluate the accuracy of NGS.
Zhang, "YAP-1 Promotes Tregs Differentiation in Hepatocellular Carcinoma by Enhancing TGFBR2 Transcription," Cellular Physiology and Biochemistry, vol.
These genes encoded proteins primarily involved in integrin signalling pathways (ACTA2, PIK3C2G, COL4A6, CAV1, LAMA1, FN1, and ITGA8), regulation of hormone levels (NR5A1, TIPARP, ACE, CRYM, CGA, ALDH1A1, TBX3, POMC, GHRH, and ALDH6), camera-type eye development (TGFBR2, BMP4, FABP7, STRA6, SIX6, and WNT6), blood vessel development (Figure S1, goo.gl/tC9GTZ), and regulation of cellular response to growth factor stimulus (see Figure 2).