| Primary Identifier | MGI:98728 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 21812 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including SMAD binding activity; transforming growth factor beta binding activity; and transforming growth factor beta receptor activity. Involved in several processes, including epicardium morphogenesis; heart development; and positive regulation of cellular component organization. Acts upstream of or within several processes, including chordate embryonic development; circulatory system development; and collagen fibril organization. Located in endosome. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Used to study Loeys-Dietz syndrome; head and neck squamous cell carcinoma; osteoarthritis; and systemic scleroderma. Human ortholog(s) of this gene implicated in Loeys-Dietz syndrome 1; Lynch syndrome; carcinoma (multiple); colorectal cancer; and urinary bladder cancer. Orthologous to human TGFBR1 (transforming growth factor beta receptor 1). PHENOTYPE: Homozygotes for some targeted null mutations exhibit defects of the yolk sac and placenta, lack circulating erythrocytes, and die at midgestation. Mutant endothelial cells show enhanced proliferation, improper migration, and reduced fibronectin production. [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
