TGFBR2是抑癌基因，编码蛋白是一种丝氨酸/苏氨酸蛋白激酶，属于转化生长因子β（TGFβ）家族。TGFβ信号转导控制多种生物学过程，包括细胞增殖、分化和组织稳态。TGFBR2是一种II型受体，与其他TGFβ受体家族成员发生异源二聚以启动下游信号转导。TGFBR2的胚系突变与常染色体II型Loeys-Dietz综合征和Marfan综合征有关。TGFBR2的体细胞突变在人类癌症罕见发生，然而，在胃肠道和胰腺癌中已经检测出失去功能性突变。

TGFBR2 is a serine/threonine protein kinase that belongs to the transforming growth-factor β (TGFβ) family. TGFß signaling controls multiple biological processes including cellular proliferation, differentiation and tissue homeostasis. TGFBR2 is a type II receptor that heterodimerizes with other TGFß receptor family members to initiate downstream signaling. Following TGFß-family ligand activation, TGFBR2 phosphorylates its dimerization partner and induces phosphorylation of downstream effectors such as the SMAD proteins, which control gene regulation. Germline mutations in TGFBR2 have been identified in the autosomal Loeys-Dietz syndrome type 2 and Marfan syndromes . TGFBR2 mutations associated with Loeys-Dietz syndrome were shown in cell lines to inactive the receptor function. Somatic mutations in TGFBR2 are infrequent in human cancer; however, loss-of-function mutations have been identified in gastrointestinal and pancreatic cancers. Targeting of the TGFß pathway is being explored as a therapeutic approach in multiple cancers and small molecule inhibitors targeting the kinase activity of TGFß receptors have entered clinical trials.

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