Tgfbr2 - transforming growth factor, beta receptor II Gene

中文名称：转化生长因子， β 受体 II

种属: Mus musculus

同用名: DNIIR; RIIDN; TBR-II; TbetaRII; TbetaR-II; 1110020H15Rik

关于 Tgfbr2

功能概要

该基因编码的蛋白可启动 SMAD 绑定活动；转化生长因子β结合活性；和转化生长因子 β 激活受体活性。参与多个过程，包括动物器官发育；循环系统发育；以及参与心内膜垫形成的上皮间充质转化的正调节。作用于多个过程的上游或内部，包括动物器官发育；细胞表面受体信号通路；和耐受诱导的正向调节。位于质膜外侧。以多种结构表达，包括消化系统；中枢神经系统;早孕;胚胎间充质；和泌尿生殖系统。用于研究迪乔治综合症； Loeys-Dietz 综合征；软腭裂；和前列腺癌。该基因的人类直系同源物与 Loeys-Dietz 综合征 2 相关；马凡综合症；胃肠系统癌症（多发性）；遗传性非息肉病性结直肠癌 6 型；和胰腺癌。与人 TGFBR2（转化生长因子 β 受体 2）同源。 [由基因组资源联盟提供，2022 年 4 月]

Enables SMAD binding activity; transforming growth factor beta binding activity; and transforming growth factor beta-activated receptor activity. Involved in several processes, including animal organ development; circulatory system development; and positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation. Acts upstream of or within several processes, including animal organ development; cell surface receptor signaling pathway; and positive regulation of tolerance induction. Located in external side of plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; embryo mesenchyme; and genitourinary system. Used to study DiGeorge syndrome; Loeys-Dietz syndrome; cleft soft palate; and prostate Cancer. Human ortholog(s) of this gene implicated in Loeys-Dietz syndrome 2; Marfan syndrome; gastrointestinal system Cancer (multiple); hereditary nonpolyposis colorectal Cancer type 6; and pancreatic Cancer. Orthologous to human TGFBR2 (transforming growth factor beta receptor 2). [provided by Alliance of Genome Resources, Apr 2022]