TGFBR2

该基因编码的蛋白是一种跨膜蛋白，具有蛋白激酶结构域，与1型转化生长因子β受体形成异二聚体复合物，并与转化生长因子β结合。这种受体/配体复合物磷酸化蛋白质，然后进入细胞核，调节与细胞增殖、细胞周期阻滞、伤口愈合、免疫抑制和肿瘤发生有关的基因转录。该基因突变与marfan综合征、loeys-deitz主动脉瘤综合征和多种肿瘤的发生有关。另外，编码不同亚型的剪接转录变体已经被描述。[由RefSeq提供，2017年8月]
The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta receptor type-1, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of genes related to cell proliferation, cell cycle arrest, wound healing, immunosuppression, and tumorigenesis. 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, Aug 2017]