GeneID: 98

Description:
SMAD7 is a member of the SMAD family of proteins, which negatively regulate the transforming growth factor β (TGFβ) signalling pathway. TGFβ ligands bind to a heterotetrameric complex of TGFβ type II and type I serine/threonine kinase receptors in order to promote signalling. Activated type I receptors bind and phosphorylate downstream effectors such as SMAD proteins, which are involved in the transcriptional control of target genes. SMAD7 functions as an inhibitory protein that binds type I receptors and blocks their kinase activity, thereby interfering with the activation of receptor-regulated SMADs. SMAD7 also acts as an adaptor protein that recruits SMURF2, an HECT-type E3 ubiquitin ligase, to the TGFβ receptor complex to mediate degradation. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Polymorphisms in this gene associated with leg ulceration and acute chest syndrome in sickle cell patients. Several transcript variants encoding different isoforms have been found for this gene.

Synonyms: CRCS3 , MADH7 , MADH8

Comments:
N/A

Number of entries/variants: 1

1. Heldin CH, Miyazono K, ten Dijke P, TGF-beta signalling from cell membrane to nucleus through SMAD proteins., Nature , 390(6659), 465-71, 1997
2. Kavsak P, Rasmussen RK, Causing CG, Bonni S, Zhu H, Thomsen GH, Wrana JL, Smad7 binds to Smurf2 to form an E3 ubiquitin ligase that targets the TGF beta receptor for degradation., Mol. Cell , 6(6), 1365-75, 2000
3. Nolan VG, Adewoye A, Baldwin C, Wang L, Ma Q, Wyszynski DF, Farrell JJ, Sebastiani P, Farrer LA, Steinberg MH, Sickle cell leg ulcers: associations with haemolysis and SNPs in Klotho, TEK and genes of the TGF-beta/BMP pathway., Br. J. Haematol. , 133(5), 570-8, 2006
4. Fertrin KY, Costa FF, Genomic polymorphisms in sickle cell disease: implications for clinical diversity and treatment., Expert Rev Hematol , 3(4), 443-58, 2010