SMAD6 SMAD family member 6
Gene ID: 4091, updated on 4-Jan-2025Gene type: protein coding
Also known as: AOVD2; MADH6; MADH7; HsT17432
- See all available tests in GTR for this gene
- Go to complete Gene record for SMAD6
- Go to Variation Viewer for SMAD6 variants
Summary
The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants have been found for this gene.[provided by RefSeq, Sep 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide gene-environment interaction analysis for tobacco smoke and lung cancer susceptibility. GeneReviews: Not available | |
| Aortic valve disease 2 | not available |
| Craniosynostosis 7 | not available |
| Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. GeneReviews: Not available | |
| Radioulnar synostosis, nonsyndromic, susceptibility to | not available |
Genomic context
- Location:
- 15q22.31
- Sequence:
- Chromosome: 15; NC_000015.10 (66702236..66782849)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SMAD6 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SMAD6 @ LOVD
- Variation ViewerRelated Variants
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