TGFB3 Chromosome 14
Transforming growth factor beta 3
Upload your DNA to see your personal genotypes for variants in TGFB3.
What This Gene Does
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Mutations in this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Aug 2016]
Gene Info
Gene Group
Transforming growth factor beta family
Locus Type
gene with protein product
Location
14q24.3
Ensembl
ENSG00000119699
Associated Conditions (13)
Familial thoracic aortic aneurysm and aortic dissection
Rienhoff syndrome
Arrhythmogenic right ventricular cardiomyopathy
Hypertrophic cardiomyopathy
Long QT syndrome
TGFB3-related disorder
Arrhythmogenic right ventricular dysplasia 1
Cardiomyopathy
Hereditary disorder of connective tissue
TGFB3-related connective tissue disorders
Primary dilated cardiomyopathy
Loeys-Dietz syndrome
Developmental disorder
Key Variants
RS1221353422
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1414628117
Conflicting classifications of pathogenicity
Rienhoff syndrome, Rienhoff syndrome
Health Risk
RS142047577
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular cardiomyopathy, Hypertrophic cardiomyopathy, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS142069844
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS142601521
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Arrhythmogenic right ventricular dysplasia 1, Rienhoff syndrome
Health Risk
RS143229915
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Cardiomyopathy, Rienhoff syndrome
Health Risk
RS1555360212
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome, Hereditary disorder of connective tissue
Health Risk
RS1594792447
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome, TGFB3-related disorder
Health Risk
RS1595337739
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS199791687
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1
Health Risk
RS201453600
Conflicting classifications of pathogenicity
Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome
Health Risk
RS201637508
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
All Variants (93)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2504093549 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2504093853 | Health Risk | Likely pathogenic | Rienhoff syndrome, Rienhoff syndrome |
| RS2504102788 | Health Risk | Likely pathogenic | Rienhoff syndrome, Rienhoff syndrome |
| RS2504102952 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2504110379 | Health Risk | Likely pathogenic | Rienhoff syndrome, Rienhoff syndrome |
| RS767548724 | Health Risk | Likely pathogenic | Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1, Rienhoff syndrome |
| RS1248127840 | Health Risk | Pathogenic | Rienhoff syndrome, Rienhoff syndrome |
| RS1555361385 | Health Risk | Pathogenic | Rienhoff syndrome, Rienhoff syndrome |
| RS1555361451 | Health Risk | Pathogenic | — |
| RS2035287277 | Health Risk | Pathogenic | Rienhoff syndrome, Rienhoff syndrome |
| RS2035295129 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 1, Arrhythmogenic right ventricular dysplasia 1 |
| RS2140236210 | Health Risk | Pathogenic | Rienhoff syndrome, Rienhoff syndrome |
| RS2140236217 | Health Risk | Pathogenic | Rienhoff syndrome, Rienhoff syndrome |
| RS2140240223 | Health Risk | Pathogenic | Rienhoff syndrome, Rienhoff syndrome |
| RS2140245174 | Health Risk | Pathogenic | — |
| RS2140245186 | Health Risk | Pathogenic | Rienhoff syndrome, Rienhoff syndrome |
| RS2140245836 | Health Risk | Pathogenic | Rienhoff syndrome, Rienhoff syndrome |
| RS2140246004 | Health Risk | Pathogenic | Rienhoff syndrome, Rienhoff syndrome |
| RS2140254449 | Health Risk | Pathogenic | Rienhoff syndrome, Rienhoff syndrome, Rienhoff syndrome |
| RS2503023856 | Health Risk | Pathogenic | Rienhoff syndrome, Rienhoff syndrome |
| RS2503024114 | Health Risk | Pathogenic | Rienhoff syndrome, Rienhoff syndrome |
| RS2504096267 | Health Risk | Pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2504099601 | Health Risk | Pathogenic | Rienhoff syndrome, Rienhoff syndrome |
| RS2504102877 | Health Risk | Pathogenic | Rienhoff syndrome, Rienhoff syndrome |
| RS2504110410 | Health Risk | Pathogenic | Rienhoff syndrome, Rienhoff syndrome |
| RS2504111590 | Health Risk | Pathogenic | Rienhoff syndrome, Rienhoff syndrome |
| RS2504111668 | Health Risk | Pathogenic | Rienhoff syndrome, Rienhoff syndrome |
| RS2504111670 | Health Risk | Pathogenic | Rienhoff syndrome, Rienhoff syndrome |
| RS2504111963 | Health Risk | Pathogenic | Rienhoff syndrome, Rienhoff syndrome |
| RS398122984 | Health Risk | Pathogenic | Rienhoff syndrome, Rienhoff syndrome |
| RS587777617 | Health Risk | Pathogenic | Rienhoff syndrome, Rienhoff syndrome |
| RS778990969 | Health Risk | Pathogenic | — |
| RS875989816 | Health Risk | Pathogenic | Rienhoff syndrome, Rienhoff syndrome |
| RS875989817 | Health Risk | Pathogenic | Rienhoff syndrome, Rienhoff syndrome |
| RS1057523647 | Health Risk | Pathogenic/Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1060502827 | Health Risk | Pathogenic/Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1 |
| RS1555360047 | Health Risk | Pathogenic/Likely pathogenic | Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555360222 | Health Risk | Pathogenic/Likely pathogenic | Rienhoff syndrome, Rienhoff syndrome |
| RS1555360229 | Health Risk | Pathogenic/Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome, Loeys-Dietz syndrome |
| RS1555360368 | Health Risk | Pathogenic/Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2035418540 | Health Risk | Pathogenic/Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2504099767 | Health Risk | Pathogenic/Likely pathogenic | Rienhoff syndrome, Rienhoff syndrome |
| RS796051885 | Health Risk | Pathogenic/Likely pathogenic | Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome |