Automated description from the Alliance of Genome Resources (Release 7.0.0)
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 heart development; regulation of DNA-templated transcription; and transmembrane receptor protein serine/threonine kinase signaling pathway. 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).
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