DISEASES

Disease-gene associations mined from literature

Literature on SMAD7

SMAD7 [ENSP00000262158]

Mothers against decapentaplegic homolog 7; Antagonist of signaling by TGF-beta (transforming growth factor) type 1 receptor superfamily members; has been shown to inhibit TGF-beta (Transforming growth factor) and activin signaling by associating with their receptors thus preventing SMAD2 access. Functions as an adapter to recruit SMURF2 to the TGF-beta receptor complex. Also acts by recruiting the PPP1R15A- PP1 complex to TGFBR1, which promotes its dephosphorylation. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator.

Synonyms:  SMAD7,  SMAD7p,  hSMAD7,  K7EKF0,  O15105 ...

Linkouts:  STRING  Pharos  UniProt  OMIM