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SMAD3 SMAD family member 3

Gene ID: 4088, updated on 21-Mar-2023
Gene type: protein coding
Also known as: LDS3; mad3; LDS1C; MADH3; JV15-2; hMAD-3; hSMAD3; HSPC193; HsT17436


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

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
MedGen: C3151087OMIM: 613795GeneReviews: Loeys-Dietz Syndrome
See labs
Familial thoracic aortic aneurysm and aortic dissectionSee 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

Copy number response

No evidence available (Last evaluated 2020-04-22)

ClinGen Genome Curation Page

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-04-22)

ClinGen Genome Curation PagePubMed

Genomic context

Chromosome: 15; NC_000015.10 (67065602..67195169)
Total number of exons:


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