To analyse the structural impact of your missense variant:
- Select the corresponding experimental/modelled structure from the "Available Structures" Panel.
- Right-click on the target structure and download it.
- Go to our web server Missense3D to analyse structural impact.
Go to Missense3D
Protein:
Other Names:
Mothers against decapentaplegic homolog 8, SMAD family member 7
Primary Accession:
Other Accessions:
B7Z773, K7EQ10, O14740, Q6DK23
Gene
:
SMAD7*, synonyms (MADH7, MADH8)
Organism
:
Human
Entry
Name :
Length
:
426
Mass (Da)
:
46,426
Last
modified :
01-Jan-1998
Version
:
v1
Isoforms
:
3
Structures
:
Experimental 0 | Phyre prediction 2
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.