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Gene information for SMAD4 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID4089
Official gene symbolSMAD4
Full nameSMAD family member 4
Aliases,DPC4,JIP,MADH4,
Gene summaryThis gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to TGF-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with other activated Smad proteins, which then accumulate in the nucleus and regulate the transcription of target genes. This protein binds to DNA and recognizes an 8-bp palindromic sequence (GTCTAGAC) called the Smad-binding element (SBE). The Smad proteins are subject to complex regulation by post-translational modifications. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome. [provided by RefSeq]
LocationChromosome: 18   Locus: 18q21.1
Gene position48556583 - 48611412  Map Viewer
Gene orientationplus
Gene size54830 bp
Gene sequence
OMIM ID600993