| Primary Identifier | MGI:1336883 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 17130 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including SMAD binding activity; protein sequestering activity; and signaling receptor binding activity. Involved in several processes, including heart development; negative regulation of ossification; and positive regulation of miRNA transcription. Acts upstream of or within circulatory system development. Predicted to be located in Golgi apparatus; cytosol; and nuclear body. Predicted to be part of heteromeric SMAD protein complex. Predicted to be active in cytoplasm. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and sensory organ. Human ortholog(s) of this gene implicated in aortic valve disease 2; craniosynostosis 7; and radioulnar synostosis. Orthologous to human SMAD6 (SMAD family member 6). PHENOTYPE: Homozygotes for a targeted null mutation exhibit hyperplasia of cardiac valves, septation defects, and usually, postnatal lethality. Survivors develop aortic ossification and hypertension as adults. [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
