SMAD2 Chromosome 18
SMAD family member 2
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What This Gene Does
The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signal of the transforming growth factor (TGF)-beta, and thus regulates multiple cellular processes, such as cell proliferation, apoptosis, and differentiation. This protein is recruited to the TGF-beta receptors through its interaction with the SMAD anchor for receptor activation (SARA) protein. In response to TGF-beta signal, this protein is phosphorylated by the TGF-beta receptors. The phosphorylation induces the dissociation of this protein with SARA and the association with the family member SMAD4. The association with SMAD4 is important for the translocation of this protein into the nucleus, where it binds to target promoters and forms a transcription repressor complex with other cofactors. This protein can also be phosphorylated by activin type 1 receptor kinase, and mediates the signal from the activin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]
Gene Info
Gene Group
SMAD family
Locus Type
gene with protein product
Location
18q21.1
Ensembl
ENSG00000175387
Associated Conditions (11)
Inborn genetic diseases
SMAD2-related disorder
Loeys-Dietz syndrome 6
Loeys-Dietz syndrome 1
Congenital heart defects
multiple types
8
with or without heterotaxy
SMAD2-related cardiac disorders
Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome
Key Variants
RS200480021
Conflicting classifications of pathogenicity
Inborn genetic diseases, SMAD2-related disorder, Inborn genetic diseases
Health Risk
RS763972729
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1555658568
Likely pathogenic
Health Risk
RS2144300077
Likely pathogenic
Loeys-Dietz syndrome 6, Loeys-Dietz syndrome 6
Health Risk
RS2144372568
Likely pathogenic
Health Risk
RS2144378963
Likely pathogenic
Health Risk
RS2511351266
Likely pathogenic
Loeys-Dietz syndrome 1, Loeys-Dietz syndrome 1
Health Risk
RS745853643
Likely pathogenic
Loeys-Dietz syndrome 6, Loeys-Dietz syndrome 6
Health Risk
RS1064793873
Pathogenic
Congenital heart defects, multiple types, 8
Health Risk
RS1131691755
Pathogenic
Health Risk
RS1402819968
Pathogenic
Congenital heart defects, multiple types, 8
Health Risk
RS1555646987
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200480021 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, SMAD2-related disorder, Inborn genetic diseases |
| RS763972729 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1555658568 | Health Risk | Likely pathogenic | — |
| RS2144300077 | Health Risk | Likely pathogenic | Loeys-Dietz syndrome 6, Loeys-Dietz syndrome 6 |
| RS2144372568 | Health Risk | Likely pathogenic | — |
| RS2144378963 | Health Risk | Likely pathogenic | — |
| RS2511351266 | Health Risk | Likely pathogenic | Loeys-Dietz syndrome 1, Loeys-Dietz syndrome 1 |
| RS745853643 | Health Risk | Likely pathogenic | Loeys-Dietz syndrome 6, Loeys-Dietz syndrome 6 |
| RS1064793873 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 8 |
| RS1131691755 | Health Risk | Pathogenic | — |
| RS1402819968 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 8 |
| RS1555646987 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1598802389 | Health Risk | Pathogenic | — |
| RS2144276285 | Health Risk | Pathogenic | Loeys-Dietz syndrome 6, Loeys-Dietz syndrome 6 |
| RS2144276709 | Health Risk | Pathogenic | — |
| RS2144287574 | Health Risk | Pathogenic | — |
| RS2144299416 | Health Risk | Pathogenic | — |
| RS2144379000 | Health Risk | Pathogenic | — |
| RS2144474365 | Health Risk | Pathogenic | — |
| RS2511326359 | Health Risk | Pathogenic | Loeys-Dietz syndrome 6, Loeys-Dietz syndrome 6 |
| RS2511349735 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 8 |
| RS367537998 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 8 |
| RS367537999 | Health Risk | Pathogenic | SMAD2-related cardiac disorders, SMAD2-related cardiac disorders |
| RS370352616 | Health Risk | Pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS397509416 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 8 |
| RS776149698 | Health Risk | Pathogenic | Loeys-Dietz syndrome, Loeys-Dietz syndrome |
| RS797044882 | Health Risk | Pathogenic | Inborn genetic diseases, Congenital heart defects, multiple types |
| RS1305523001 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1914769460 | Health Risk | Pathogenic/Likely pathogenic | SMAD2-related disorder, SMAD2-related disorder |
| RS2144373131 | Health Risk | Pathogenic/Likely pathogenic | Loeys-Dietz syndrome 6, SMAD2-related disorder, Loeys-Dietz syndrome 6 |