Aliases for SMAD6 Gene
External Ids for SMAD6 Gene
Previous HGNC Symbols for SMAD6 Gene
Previous GeneCards Identifiers for SMAD6 Gene
The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants have been found for this gene.[provided by RefSeq, Sep 2014]
GeneCards Summary for SMAD6 Gene
SMAD6 (SMAD Family Member 6) is a Protein Coding gene. Diseases associated with SMAD6 include Aortic Valve Disease 2 and Craniosynostosis 7. Among its related pathways are Toll-like Receptor Signaling Pathway and Signaling by BMP. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is SMAD7.
UniProtKB/Swiss-Prot Summary for SMAD6 Gene
Acts as a mediator of TGF-beta and BMP antiflammatory activity. Suppresses IL1R-TLR signaling through its direct interaction with PEL1, preventing NF-kappa-B activation, nuclear transport and NF-kappa-B-mediated expression of proinflammatory genes. May block the BMP-SMAD1 signaling pathway by competing with SMAD4 for receptor-activated SMAD1-binding. Binds to regulatory elements in target promoter regions.