SMAD3 SMAD family member 3
Gene ID: 4088, updated on 16-Apr-2024Gene type: protein coding
Also known as: LDS3; mad3; LDS1C; MADH3; JV15-2; hMAD-3; hSMAD3; HSPC193; HsT17436
- See all available tests in GTR for this gene
- Go to complete Gene record for SMAD3
- Go to Variation Viewer for SMAD3 variants
Summary
The SMAD family of proteins are a group of intracellular signal transducer proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. The SMAD3 protein functions in the transforming growth factor-beta signaling pathway, and transmits signals from the cell surface to the nucleus, regulating gene activity and cell proliferation. This protein forms a complex with other SMAD proteins and binds DNA, functioning both as a transcription factor and tumor suppressor. Mutations in this gene are associated with aneurysms-osteoarthritis syndrome and Loeys-Dietz Syndrome 3. [provided by RefSeq, May 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. GeneReviews: Not available | |
| A genome-wide gene-environment interaction analysis for tobacco smoke and lung cancer susceptibility. GeneReviews: Not available | |
| A large-scale, consortium-based genomewide association study of asthma. GeneReviews: Not available | |
| Aneurysm-osteoarthritis syndrome | See labs |
| Familial thoracic aortic aneurysm and aortic dissection MedGen: C4707243GeneReviews: Heritable Thoracic Aortic Disease Overview | See labs |
| Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. GeneReviews: Not available | |
| Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype. GeneReviews: Not available | |
| Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. GeneReviews: Not available | |
| Genomewide association analysis of coronary artery disease. GeneReviews: Not available | |
| Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-04-22) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-04-22) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 15q22.33
- Sequence:
- Chromosome: 15; NC_000015.10 (67065602..67195169)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SMAD3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CHD8 @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- Loeys-Dietz Syndrome Mutation Database - SMAD3
- 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
- Variation ViewerRelated Variants
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