Gene: SMAD2

Alternate names for this Gene: JV18|JV18-1|MADH2|MADR2|hMAD-2|hSMAD2

Gene Summary: The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signal of the transforming growth factor (TGF)-beta, and thus regulates multiple cellular processes, such as cell proliferation, apoptosis, and differentiation. This protein is recruited to the TGF-beta receptors through its interaction with the SMAD anchor for receptor activation (SARA) protein. In response to TGF-beta signal, this protein is phosphorylated by the TGF-beta receptors. The phosphorylation induces the dissociation of this protein with SARA and the association with the family member SMAD4. The association with SMAD4 is important for the translocation of this protein into the nucleus, where it binds to target promoters and forms a transcription repressor complex with other cofactors. This protein can also be phosphorylated by activin type 1 receptor kinase, and mediates the signal from the activin. Alternatively spliced transcript variants have been observed for this gene.

Gene is located in Chromosome: 18

Location in Chromosome : 18q21.1

Description of this Gene: SMAD family member 2

Type of Gene: protein-coding

rs72661148 in SMAD2 gene and Age at menarche PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs797044882 in SMAD2 gene and Multiple congenital anomalies PMID 26247899 2015 SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.

PMID 23665959 2013 De novo mutations in histone-modifying genes in congenital heart disease.

PMID 11024047 2001 Nodal signaling uses activin and transforming growth factor-beta receptor-regulated Smads.

PMID 10068469 1999 Dominant-negative Smad2 mutants inhibit activin/Vg1 signaling and disrupt axis formation in Xenopus.