DISEASES

Disease-gene associations mined from literature

Literature associating SMAD2 and melorheostosis

SMAD2 [ENSP00000262160]

Mothers against decapentaplegic homolog 2; 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.

Synonyms:  SMAD2,  SMAD2p,  hSMAD2,  B7Z5N5,  K7EJX0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM