SMAD6 Chromosome 15
SMAD family member 6
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What This Gene Does
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]
Gene Info
Gene Group
SMAD family
Locus Type
gene with protein product
Location
15q22.31
Ensembl
ENSG00000137834
Associated Conditions (20)
Radioulnar synostosis
Craniosynostosis 7
Aortic valve disease 2
CRANIOSYNOSTOSIS 7
SUSCEPTIBILITY TO
Frontal bossing
Premature closure of fontanelles
Plagiocephaly
Thoracic aortic aneurysm
SMAD6-related disorder
Aneurysm-osteoarthritis syndrome
Aortic valve disease 1
Polydactyly
nonsyndromic
susceptibility to
Inborn genetic diseases
Craniosynostosis syndrome
Abnormal axial skeleton morphology
Heart
malformation of
Key Variants
RS1006397889
Conflicting classifications of pathogenicity
Radioulnar synostosis, Craniosynostosis 7, Aortic valve disease 2
Health Risk
RS1011464295
Conflicting classifications of pathogenicity
Aortic valve disease 2, Aortic valve disease 2
Health Risk
RS1056072996
Conflicting classifications of pathogenicity
Aortic valve disease 2, Aortic valve disease 2
Health Risk
RS1064793003
Conflicting classifications of pathogenicity
CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO, Aortic valve disease 2
Health Risk
RS1160042861
Conflicting classifications of pathogenicity
Radioulnar synostosis, Aortic valve disease 2, Radioulnar synostosis
Health Risk
RS1199495614
Conflicting classifications of pathogenicity
Radioulnar synostosis, Aortic valve disease 2, Radioulnar synostosis
Health Risk
RS1213841516
Conflicting classifications of pathogenicity
Radioulnar synostosis, Frontal bossing, Premature closure of fontanelles
Health Risk
RS1235097131
Conflicting classifications of pathogenicity
Aortic valve disease 2, Radioulnar synostosis, SMAD6-related disorder
Health Risk
RS1241989233
Conflicting classifications of pathogenicity
Aortic valve disease 2, Aortic valve disease 2
Health Risk
RS1246889300
Conflicting classifications of pathogenicity
Aneurysm-osteoarthritis syndrome, Aortic valve disease 2, Aortic valve disease 1
Health Risk
RS1353173742
Conflicting classifications of pathogenicity
Health Risk
RS1409145798
Conflicting classifications of pathogenicity
Polydactyly, Radioulnar synostosis, Aortic valve disease 2
Health Risk
All Variants (111)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS751622656 | Health Risk | Pathogenic | Radioulnar synostosis, Radioulnar synostosis |
| RS753110746 | Health Risk | Pathogenic | Radioulnar synostosis, Radioulnar synostosis |
| RS755868380 | Health Risk | Pathogenic | Abnormal axial skeleton morphology, Radioulnar synostosis, Abnormal axial skeleton morphology |
| RS868327024 | Health Risk | Pathogenic | Craniosynostosis 7, Craniosynostosis 7 |
| RS1196005021 | Health Risk | Pathogenic/Likely pathogenic | Aortic valve disease 2, Radioulnar synostosis, nonsyndromic |
| RS1424182433 | Health Risk | Pathogenic/Likely pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS1567092048 | Health Risk | Pathogenic/Likely pathogenic | Aortic valve disease 2, Aortic valve disease 2 |
| RS2545322709 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1085307122 | Health Risk | risk factor | CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO, CRANIOSYNOSTOSIS 7 |
| RS1595757271 | Health Risk | Uncertain significance; risk factor | Radioulnar synostosis, nonsyndromic, susceptibility to |
| RS1595805211 | Health Risk | Uncertain significance; risk factor | Radioulnar synostosis, nonsyndromic, susceptibility to |