TGFB2 Chromosome 1
Transforming growth factor beta 2
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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. Disruption of the TGF-beta/SMAD pathway has been implicated in a variety of human cancers. A chromosomal translocation that includes this gene is associated with Peters' anomaly, a congenital defect of the anterior chamber of the eye. Mutations in this gene may be associated with Loeys-Dietz syndrome. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]
Gene Info
Gene Group
Transforming growth factor beta family
Locus Type
gene with protein product
Location
1q41
Ensembl
ENSG00000092969
Associated Conditions (13)
Loeys-Dietz syndrome 4
Familial thoracic aortic aneurysm and aortic dissection
Ehlers-Danlos syndrome
Aortic aneurysm
TGFB2-related disorder
Proteinuria
Inborn genetic diseases
Marfan syndrome
Familial aortopathy
Loeys-Dietz syndrome
Atrial septal defect 1
familial thoracic
TGFB2 related
Key Variants
RS11466408
Conflicting classifications of pathogenicity
Loeys-Dietz syndrome 4, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 4
Health Risk
RS139825195
Conflicting classifications of pathogenicity
Loeys-Dietz syndrome 4, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 4
Health Risk
RS141548795
Conflicting classifications of pathogenicity
Loeys-Dietz syndrome 4, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 4
Health Risk
RS1436552875
Conflicting classifications of pathogenicity
Loeys-Dietz syndrome 4, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 4
Health Risk
RS147052890
Conflicting classifications of pathogenicity
Loeys-Dietz syndrome 4, Ehlers-Danlos syndrome, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1481374757
Conflicting classifications of pathogenicity
Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
Health Risk
RS149533093
Conflicting classifications of pathogenicity
Loeys-Dietz syndrome 4, Aortic aneurysm, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1558264109
Conflicting classifications of pathogenicity
Loeys-Dietz syndrome 4, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 4
Health Risk
RS1571904338
Conflicting classifications of pathogenicity
Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
Health Risk
RS192335285
Conflicting classifications of pathogenicity
Loeys-Dietz syndrome 4, Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
Health Risk
RS201129153
Conflicting classifications of pathogenicity
Loeys-Dietz syndrome 4, Familial thoracic aortic aneurysm and aortic dissection, TGFB2-related disorder
Health Risk
RS201761868
Conflicting classifications of pathogenicity
Loeys-Dietz syndrome 4, Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
Health Risk
All Variants (108)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1553303352 | Health Risk | Pathogenic/Likely pathogenic | Loeys-Dietz syndrome 4, TGFB2-related disorder, Familial thoracic aortic aneurysm and aortic dissection |
| RS1656706610 | Health Risk | Pathogenic/Likely pathogenic | Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4 |
| RS2464757983 | Health Risk | Pathogenic/Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS730880221 | Health Risk | Pathogenic/Likely pathogenic | Loeys-Dietz syndrome, Loeys-Dietz syndrome 4, Loeys-Dietz syndrome |
| RS863223792 | Health Risk | Pathogenic/Likely pathogenic | Loeys-Dietz syndrome 4, Familial aortopathy, Familial thoracic aortic aneurysm and aortic dissection |
| RS866504799 | Health Risk | Pathogenic/Likely pathogenic | Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4 |
| RS869025531 | Health Risk | Pathogenic/Likely pathogenic | Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 4 |
| RS869312903 | Health Risk | Pathogenic/Likely pathogenic | Loeys-Dietz syndrome 4, Aortic aneurysm, familial thoracic |