Background

SMAD2 (SMAD Family Member 2) is a Protein Coding gene. Diseases associated with SMAD2 include Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy and Loeys-Dietz Syndrome 6. Among its related pathways are TGF-beta receptor signaling activates SMADs and Gene expression (Transcription). Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription factor binding. An important paralog of this gene is SMAD3. Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD2/SMAD4 complex, activates transcription. May act as a tumor suppressor in colorectal carcinoma. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator. ( SMAD2_HUMAN,Q15796 )