TGFBR2 Chromosome 3
Transforming growth factor beta receptor 2
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What This Gene Does
The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta receptor type-1, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of genes related to cell proliferation, cell cycle arrest, wound healing, immunosuppression, and tumorigenesis. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
Type 2 receptor serine/threonine kinases
Locus Type
gene with protein product
Location
3p24.1
Ensembl
ENSG00000163513
Associated Conditions (27)
Diabetic retinopathy
Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome 2
Loeys-Dietz syndrome
Colorectal cancer
hereditary nonpolyposis
type 6
Congenital aneurysm of ascending aorta
Marfan syndrome
Connective tissue disorder
Ehlers-Danlos syndrome
TGFBR2-related disorder
Malignant tumor of esophagus
Loeys-Dietz syndrome 1
Multiple congenital anomalies/dysmorphic syndrome
Ascending tubular aorta aneurysm
Vascular dilatation
Thoracic aortic aneurysm
Thoracic aortic dissection
Cardiovascular phenotype
+7 more conditions
Key Variants
RS1002352692
Conflicting classifications of pathogenicity
Diabetic retinopathy, Diabetic retinopathy
Health Risk
RS1014929115
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1040386724
Conflicting classifications of pathogenicity
Loeys-Dietz syndrome 2, Diabetic retinopathy, Loeys-Dietz syndrome 2
Health Risk
RS104893813
Conflicting classifications of pathogenicity
Loeys-Dietz syndrome 2, Loeys-Dietz syndrome, Colorectal cancer
Health Risk
RS1057520957
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2, Diabetic retinopathy
Health Risk
RS1060501985
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy
Health Risk
RS112215250
Conflicting classifications of pathogenicity
Congenital aneurysm of ascending aorta, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome
Health Risk
RS112465572
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1212599579
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1226482581
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1247177623
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, TGFBR2-related disorder, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1269699495
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
All Variants (234)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1002352692 | Health Risk | Conflicting classifications of pathogenicity | Diabetic retinopathy, Diabetic retinopathy |
| RS1014929115 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1040386724 | Health Risk | Conflicting classifications of pathogenicity | Loeys-Dietz syndrome 2, Diabetic retinopathy, Loeys-Dietz syndrome 2 |
| RS104893813 | Health Risk | Conflicting classifications of pathogenicity | Loeys-Dietz syndrome 2, Loeys-Dietz syndrome, Colorectal cancer |
| RS1057520957 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2, Diabetic retinopathy |
| RS1060501985 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy |
| RS112215250 | Health Risk | Conflicting classifications of pathogenicity | Congenital aneurysm of ascending aorta, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome |
| RS112465572 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2, Familial thoracic aortic aneurysm and aortic dissection |
| RS1212599579 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy, Familial thoracic aortic aneurysm and aortic dissection |
| RS1226482581 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1247177623 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, TGFBR2-related disorder, Familial thoracic aortic aneurysm and aortic dissection |
| RS1269699495 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy, Familial thoracic aortic aneurysm and aortic dissection |
| RS1288771489 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2, TGFBR2-related disorder |
| RS1305653433 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2, Diabetic retinopathy |
| RS1371905176 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2, Familial thoracic aortic aneurysm and aortic dissection |
| RS138262219 | Health Risk | Conflicting classifications of pathogenicity | Colorectal cancer, hereditary nonpolyposis, type 6 |
| RS139456857 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2, Familial thoracic aortic aneurysm and aortic dissection |
| RS146277116 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Colorectal cancer, hereditary nonpolyposis |
| RS1486137817 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS148665451 | Health Risk | Conflicting classifications of pathogenicity | Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS149141477 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS150022335 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2, Familial thoracic aortic aneurysm and aortic dissection |
| RS150116445 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2, Loeys-Dietz syndrome |
| RS1553627148 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy, Familial thoracic aortic aneurysm and aortic dissection |
| RS1559443648 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy, Familial thoracic aortic aneurysm and aortic dissection |
| RS1559443652 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy, Loeys-Dietz syndrome 2 |
| RS1559456531 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy, Loeys-Dietz syndrome 2 |
| RS1559466824 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2, Familial thoracic aortic aneurysm and aortic dissection |
| RS1559467821 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1575125943 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1575157782 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1575158141 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1697919506 | Health Risk | Conflicting classifications of pathogenicity | Loeys-Dietz syndrome 2, Diabetic retinopathy, Loeys-Dietz syndrome 2 |
| RS1697931973 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy, Familial thoracic aortic aneurysm and aortic dissection |
| RS1698856374 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy, Familial thoracic aortic aneurysm and aortic dissection |
| RS1698857092 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy, Familial thoracic aortic aneurysm and aortic dissection |
| RS1699346690 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1699349663 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2, Familial thoracic aortic aneurysm and aortic dissection |
| RS1699358560 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2, Familial thoracic aortic aneurysm and aortic dissection |
| RS1699391960 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1699393884 | Health Risk | Conflicting classifications of pathogenicity | Malignant tumor of esophagus, Familial thoracic aortic aneurysm and aortic dissection, Malignant tumor of esophagus |
| RS1699706945 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS188599299 | Health Risk | Conflicting classifications of pathogenicity | Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2 |
| RS193922660 | Health Risk | Conflicting classifications of pathogenicity | Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome |
| RS199660234 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2, Familial thoracic aortic aneurysm and aortic dissection |
| RS200111443 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy, Familial thoracic aortic aneurysm and aortic dissection |
| RS200361387 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Colorectal cancer, hereditary nonpolyposis |
| RS200630803 | Health Risk | Conflicting classifications of pathogenicity | Loeys-Dietz syndrome 2, Familial thoracic aortic aneurysm and aortic dissection, Multiple congenital anomalies/dysmorphic syndrome |
| RS200958264 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Colorectal cancer, hereditary nonpolyposis |
| RS2125436421 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |