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TGFBR2 - transforming growth factor beta receptor 2
- Synonym(s) : TBRII, TBR-ii
- Previous symbols and names : MFS2, transforming growth factor beta receptor II, transforming growth factor, beta receptor II (70/80kDa)
- Type : gene with protein product
- Chromosomal location : 3p24.1
- OMIM: 190182
- HGNC: 11773
- UniProtKB: P37173
- Genatlas: TGFBR2
- GenCC: TGFBR2
- Ensembl: ENSG00000163513
- IUPHAR-DB: 1795
- Reactome: P37173
- LOVD: TGFBR2
Diseases list
- Disease-causing germline mutation(s) in Familial thoracic aortic aneurysm and aortic dissection
ORPHA:91387 
- Disease-causing germline mutation(s) in Loeys-Dietz syndrome
ORPHA:60030 - Disease-causing germline mutation(s) in Marfan syndrome type 2
ORPHA:284973 - Candidate gene tested in Lynch syndrome
ORPHA:144 - Candidate gene tested in Squamous cell carcinoma of the esophagus
ORPHA:99977
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
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