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SMAD3

Synonyms
HSPC193, HsT17436, JV15-2, LDS1C, LDS3, MADH3
External resources
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. It also functions as a tumor suppressor. Mutations in this gene are associated with aneurysms-osteoarthritis syndrome and Loeys-Dietz Syndrome 3.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
5
Likely pathogenic
0
VUS
1,112
Likely benign
513
Benign
1,964

Patient phenotypes

Proportions of phenotypes among 5 patients carrying pathogenic or likely pathogenic variants on SMAD3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
40%
Abnormality of the genitourinary system
40%
Abnormality of head or neck
20%
Abnormality of the eye
20%
Abnormality of the musculoskeletal system
20%
Abnormality of the nervous system
20%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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