| Primary Identifier | MGI:894293 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 17128 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; collagen binding activity; and identical protein binding activity. Involved in several processes, including cell surface receptor protein serine/threonine kinase signaling pathway; heart development; and regulation of DNA-templated transcription. Acts upstream of or within several processes, including positive regulation of gonadotropin secretion; regulation of DNA-templated transcription; and reproductive structure development. Located in cytoplasm and nucleus. Part of RNA polymerase II transcription regulator complex. Is expressed in several structures, including central nervous system; early conceptus; genitourinary system; jaw; and respiratory system. Used to study colorectal cancer; juvenile polyposis syndrome; and osteogenesis imperfecta. Human ortholog(s) of this gene implicated in several diseases, including female reproductive organ cancer (multiple); hereditary hemorrhagic telangiectasia; juvenile polyposis syndrome; juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome; and seminoma. Orthologous to human SMAD4 (SMAD family member 4). PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired formation of extraembryonic membrane and endoderm and die prior to gastrulation. Heterozygotes develop polyposis of the glandular stomach and duodenum. [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
