| Primary Identifier | MGI:98729 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 21813 |
| 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 circulatory system development; positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation; and skeletal system development. Acts upstream of or within several processes, including cell surface receptor signaling pathway; positive regulation of tolerance induction; and respiratory system development. Located in external side of plasma membrane. Is expressed in several structures, including alimentary system; early conceptus; embryo mesenchyme; genitourinary system; and nervous system. Used to study DiGeorge syndrome; Loeys-Dietz syndrome; cleft soft palate; lung cancer; and prostate cancer. Human ortholog(s) of this gene implicated in several diseases, including Loeys-Dietz syndrome 2; Lynch syndrome (multiple); Marfan syndrome; gastrointestinal system cancer (multiple); and mismatch repair cancer syndrome. Orthologous to human TGFBR2 (transforming growth factor beta receptor 2). PHENOTYPE: Homozygotes for targeted null mutations die in midgestation with impaired yolk sac hematopoiesis and vasculogenesis. Selective knockouts in bone marrow cells and cranial neural crest show inflammation and cleft palate/calvarial defects, respectively. [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
