HGNC ID: 3349
Target Abstract:
Endoglin, also known as CD105, is a type I transmembrane glycoprotein located on the surface of cell membranes, known as TGF- β One of the receptor complexes. It participates in regulation and TGF- β 1. TGF- β 3. Response to Activin-A, BMP-2, and BMP-7 binding. Endoglin is speculated to be involved in the formation of the cytoskeleton that affects cell morphology and migration. It plays a role in the development of the cardiovascular system and vascular remodeling. During the development of the heart, the expression of Endoglin is regulated. Experimental mice lacking the Endoglin gene died due to cardiovascular abnormalities. In humans, Endoglin may be involved in autosomal dominant diseases, known as type 1 hereditary hemorrhagic telangiectasia (HHT). It can cause frequent epistaxis, skin and mucosal capillary dilation, and cause arteriovenous malformations in different organs such as the brain, lungs, and liver.
ENG Target Infomation Overview
- Target Symbol: ENG, endoglin
- Gene Groups: CD molecules
- Alias: END; HHT1; CD105
- Previous Names: ORW1; ORW
- Alias Names: Osler-Rendu-Weber syndrome 1
ENG, endoglin Target Infomation by Species
- Human
- Mouse
- Rat
Human ENG Target Information
- Target Symbol: ENG, endoglin
- Alias:
- CD105
- CD105 antigen
- END
- FLJ41744
- HHT1
- ORW
- ORW1
- NCBI_Gene: 2022
- UniProtKB: P17813
Human ENG Predicted Functions
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.
Mouse Eng Target Information
- Target Symbol: Eng, endoglin
- Alias:
- AI528660
- AI662476
- CD105
- Endo
- expressed sequence AI528660
- expressed sequence AI662476
- NCBI_Gene: 13805
Mouse Eng Predicted Functions
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).
Rat Eng Target Information
- Target Symbol: Eng, endoglin
- Alias:
- MGC124909
- NCBI_Gene: 497010
Rat Eng Predicted Functions
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).
