| Primary Identifier | MGI:98727 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 21809 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Predicted to enable several functions, including cytokine activity; transforming growth factor beta binding activity; and transforming growth factor beta receptor binding activity. Involved in several processes, including face morphogenesis; positive regulation of SMAD protein signal transduction; and positive regulation of macromolecule biosynthetic process. Acts upstream of or within with a positive effect on gene expression. Acts upstream of or within several processes, including positive regulation of filopodium assembly; positive regulation of transcription by RNA polymerase II; and regulation of apoptotic process. Located in extracellular matrix. Is expressed in several structures, including alimentary system; embryo mesenchyme; heart and pericardium; sensory organ; and skin. Human ortholog(s) of this gene implicated in Loeys-Dietz syndrome 5; arrhythmogenic right ventricular cardiomyopathy; and arrhythmogenic right ventricular dysplasia 1. Orthologous to human TGFB3 (transforming growth factor beta 3). PHENOTYPE: Homozygotes for targeted null mutations exhibit cleft palate, lung hypoplasia, hemothorax, impaired suckling, respiratory distress, and neonatal lethality. [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
