SMAD family member 3
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Arthrogryposis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedClefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEhlers Danlos syndrome with a likely monogenic cause
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownSkeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedThoracic aortic aneurysm or dissection
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedThoracic aortic aneurysm or dissection (GMS)
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted+5 more panels — install the extension to see the full list inline on any page.
aneurysm-osteoarthritis syndrome
Aneurysm - osteoarthritis syndrome
familial thoracic aortic aneurysm and aortic dissection
asthma
Rare disease with thoracic aortic aneurysm and aortic dissection
Abnormality of the skeletal system
Loeys-Dietz syndrome
osteoarthritis, hip
respiratory system disorder
allergic disease
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
SMAD family member 3
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 SMAD3/SMAD4 complex, activates transcription. Also can form a SMAD3/SMAD4/JUN/FOS complex at the AP-1/SMAD site to regulate TGF-beta-mediated transcription. Has an inhibitory effect on wound healing probably by modulating both growth and migration of primary keratinocytes and by altering the TGF-mediated chemotaxis of monocytes. This effect on wound healing appears to be hormone-sensitive. Regulator of chondrogenesis and osteogenesis and inhibits early healing of bone fractures. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator
Curated MONDO disease pages that list SMAD3 among their top associated genes.
SMAD3 · P84022
Mean pLDDT
83.6/ 100
Confident
425 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
