ENG 靶点信息

ENG 分子靶点信息概述

  • 分子名：ENG, endoglin
  • 基因家族：CD molecules
  • 别名：END; HHT1; CD105
  • 曾用名：ORW1; ORW
  • 全称：Osler-Rendu-Weber syndrome 1

ENG 分子靶点综述

内皮糖蛋白(Endoglin)，又称为CD105，是位于细胞膜表面的I型跨膜糖蛋白，是TGF-β受体复合物之一。它参与调控与TGF-β1、TGF-β3、Activin-A、BMP-2和BMP-7结合的应答。Endoglin被推测参与影响细胞形态和迁移的细胞骨架构成。它在心血管系统发育和血管重塑中发挥作用。在心脏发育过程中，Endoglin的表达受到调控。缺失Endoglin基因的实验小鼠由于心血管异常而死亡。在人类中，Endoglin可能参与常染色体显性疾病，为人熟知的是1型遗传性出血性毛细血管扩张症(HHT)。它会导致频繁的鼻出血、皮肤和粘膜毛细管扩张，在不同的器官(如大脑、肺和肝脏)中引起动静脉畸形。

ENG, endoglin 分子靶点种属信息

人 Human小鼠 Mouse大鼠 Rat

人 Human ENG 分子靶点信息

人 Human ENG靶点分子功能（预测）

Enables several functions, including galactose binding activity; protein homodimerization activity; and transforming growth factor beta receptor binding activity. Contributes to BMP binding activity and transforming growth factor beta binding activity. Involved in several processes, including central nervous system vasculogenesis; regulation of transcription by RNA polymerase II; and regulation of transmembrane receptor protein serine/threonine kinase signaling pathway. Located in external side of plasma membrane; extracellular space; and nuclear body. Part of receptor complex. Implicated in arteriovenous malformation; arteriovenous malformations of the brain; breast cancer; hereditary hemorrhagic telangiectasia; and intracranial aneurysm. Biomarker of several diseases, including artery disease (multiple); clear cell renal cell carcinoma; diabetic retinopathy; hematologic cancer (multiple); and secondary hyperparathyroidism.

小鼠 Mouse Eng 分子靶点信息

小鼠 Mouse Eng 靶点分子功能（预测）

Enables protein homodimerization activity and transforming growth factor beta binding activity. Involved in several processes, including circulatory system development; positive regulation of cell differentiation; and regulation of gene expression. Acts upstream of or within circulatory system development and positive regulation of angiogenesis. Located in endothelial microparticle. Is expressed in several structures, including brain; cardiovascular system; extraembryonic vascular system; and lung. Used to study arteriovenous malformations of the brain and hereditary hemorrhagic telangiectasia. Human ortholog(s) of this gene implicated in arteriovenous malformation; arteriovenous malformations of the brain; breast cancer; hereditary hemorrhagic telangiectasia; and intracranial aneurysm. Orthologous to human ENG (endoglin).

大鼠 Rat Eng 分子靶点信息

大鼠 Rat Eng 靶点分子功能（预测）

Enables type II transforming growth factor beta receptor binding activity. Involved in several processes, including cellular response to mechanical stimulus; positive regulation of collagen biosynthetic process; and positive regulation of macromolecule metabolic process. Located in cell surface and extracellular space. Used to study congestive heart failure; pre-eclampsia; and renal fibrosis. Biomarker of cholestasis; congestive heart failure; hepatocellular carcinoma; hypertension (multiple); and renal fibrosis. Human ortholog(s) of this gene implicated in arteriovenous malformation; arteriovenous malformations of the brain; breast cancer; hereditary hemorrhagic telangiectasia; and intracranial aneurysm. Orthologous to human ENG (endoglin).

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