rs3087465
This is a upstream gene variant variant in the TGFBR2 gene.
▶ClinVar annotation
Familial thoracic aortic aneurysm and aortic dissection (TAAD)
View on ClinVar →▶Research that mentions this SNP (1)
▶Genetic Polymorphisms in the Transforming Growth Factor-β Signaling Pathways and Breast Cancer Risk and SurvivalReviewWei Zheng et al.(2009)· Methods in Molecular Biology
A literature review summarizing epidemiologic evidence for associations between genetic polymorphisms in TGF-β signaling pathway genes and breast cancer risk and survival. The TGFB1 T+29C polymorphism (rs1982073) is the most studied variant, with meta-analysis showing a summary OR of 0.92 (95% CI=0.81-1.05) for CC genotype versus TT; results across studies were inconsistent. The TGFBR1 9A/6A polymorphism showed evidence of elevated risk with the *6A allele in some studies. For survival, TGFB1 variant C allele carriers showed reduced disease-free survival (HR=1.4, 95% CI=1.0-1.9) in one major study.
About TGFBR2
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]
View all TGFBR2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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