| Primary Identifier | MGI:98726 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 21808 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable several functions, including amyloid-beta binding activity; protein homodimerization activity; and transforming growth factor beta receptor binding activity. Involved in several processes, including circulatory system development; regulation of epithelial to mesenchymal transition involved in endocardial cushion formation; and regulation of intracellular signal transduction. Acts upstream of or within several processes, including circulatory system development; neuron differentiation; and positive regulation of apoptotic process. Located in several cellular components, including axon; endosome; and neuronal cell body. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and sensory organ. Used to study Loeys-Dietz syndrome. Human ortholog(s) of this gene implicated in Loeys-Dietz syndrome 4; colorectal cancer; and pancreatic adenosquamous carcinoma. Orthologous to human TGFB2 (transforming growth factor beta 2). PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects of the heart, lungs, skull, limbs, spinal column, eyes, inner ears, and urogenital system, and perinatal mortality. Heterozygotes show abnormalities of the Cowpers' gland and intestinal mucosa. [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
