Smad4 - SMAD family member 4

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 signaling pathway; heart development; and positive regulation of protein modification process. Acts upstream of or within several processes, including animal organ development; positive regulation of gonadotropin secretion; and regulation of transcription, DNA-templated. 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; immune system; and respiratory system. Used to study 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). [provided by Alliance of Genome Resources, Apr 2022]