SMAD6

[edit] Synopsis

Smad proteins are intracellular mediators of signalling initiated by TGF-beta superfamily ligands (TGF-beta, activin and bone morphogenetic proteins (BMPs)). Smads 1, 2, 3, 5 and 8 are activated upon phosphorylation by specific type I receptors, and associate with the common partner Smad4 to trigger transcriptional responses. The inhibitory Smads (Smad6 and 7) are transcriptionally induced in cultured cells treated with TGF-beta superfamily ligands, and downregulate signalling in vitro (Afrakhte et al., 1998 and Imamura et al., 1997).

[edit] Animal model

Smad6 expression is largely restricted to the heart and blood vessels. Targeted mutation of Madh6 (which encodes the Smad6 protein) in mice results in multiple cardiovascular abnormalities. Hyperplasia of the cardiac valves and outflow tract septation defects in Madh6 deficient mice indicate a regulatory role of SMAD6 in endocardial cushion development (Galvin et al., 2000).

[edit] Mutation analysis

So far no SMAD6 mutations have been reported in human CHD.

External references for SMAD6

• ensembl: ENSG00000137834
• OMIM: 602931
• Search miRBase for SMAD6
• Expression patterns from 4DXPress: SMAD6
• MGI: MGI:1336883
• ZFIN: ZDB-GENE-050419-198
• Wikipedia: SMAD6
• Search Wikiproteins: SMAD6
• Search Genetic Association Database: SMAD6
• Search GeneTests: SMAD6
• CHeartED:

Known phenotypes for SMAD6

Non-syndromic

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Syndromic

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Protein interaction partners

Patients reports for SMAD6

• case 1456 Clinical data Phenotype

Translocations

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Mutations in SMAD6

Representation of protein SMAD6

Heart expression domain of SMAD6

No specified expression domain for SMAD6

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Associated CHDs found by automated text mining

AGeneApart Method

Huge Navigator (Genopedia)

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Heart defects

This page contributors

• Jeroen Breckpot - CME Leuven (Belgium) (Free text)