SMAD family member 4
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]
Gene aliases
DPC4,
JIP,
MYHRS
Chromosome
18
Map location
18q21.1
Gene type
protein-coding
Gene Ontology (GO) terms enrichment
Database references
Statistics for SMAD4
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Sequence variants for SMAD4
List of cell lines/tissues that have SMAD4 sequence variants
List of pathways where SMAD4 is involved
| Pathway name | Pathway source |
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Protein-Protein Interaction Network for SMAD4
Network key
Number of sequence variations per gene
Protein identification for SMAD4
Browse by protein identification methods
| Identification method | Quantitative data available |
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