| Primary Identifier | MGI:95392 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 13805 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) 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 angiogenesis; cell migration involved in endocardial cushion formation; and positive regulation of angiogenesis. Located in endothelial microparticle. Is expressed in several structures, including aorta-gonad-mesonephros; brain; cardiovascular system; extraembryonic component; and liver. Used to study arteriovenous malformations of the brain and hereditary hemorrhagic telangiectasia. Human ortholog(s) of this gene implicated in artery disease (multiple); breast cancer; hemangioma (multiple); and hereditary hemorrhagic telangiectasia. Orthologous to human ENG (endoglin). PHENOTYPE: Homozygotes for targeted null mutations show defective vascular development, extra-arterial hematopoiesis, cardiac defects and die by embryonic day 11.0. Heterozygotes develop hemorrhagic telangiectasia causing strokes, fatal hemorrhage and heart failure. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
