Homo sapiens Gene: SMAD4
|Last Modified||2012-02-14 [Report errors or provide feedback]|
|Gene Name||SMAD family member 4|
|Synonyms||DPC4; JIP; MADH4; MYHRS|
This 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, Oct 2009]
|Genomic Location||Chromosome 18: 48494410-48611415|
|Number of Interactions||
This gene and/or its encoded proteins are associated with 316 experimentally validated interaction(s) in this database.
They are also associated with 39 interaction(s) predicted by orthology.
|UniProt Splice Variant|
|UniGene||Hs.610854 Hs.621831 Hs.707908 Hs.732302 Hs.75862|
|EMBL||AB043547 AC087687 AC091551 AF045438 AF045439 AF045440 AF045441 AF045442 AF045443 AF045444 AF045445 AF045446 AF045447 AK290770 BC002379 CH471096 U44378|
|GenPept||AAA91041 AAC03051 AAH02379 BAB40977 BAF83459 EAW62985|
|RNA Seq Atlas||4089|