rs746432
This is a synonymous variant in the ESR1 gene — it does not change the protein's amino acid sequence.
▶ClinVar annotation
▶Research that mentions this SNP (2)
▶The Synonymous Ala87 Mutation of Estrogen Receptor Alpha Modifies Transcriptional Activation Through Both ERE and AP1 SitesFunctionalTamara Fernández-Calero et al.(2016)· Methods in Molecular Biology
This chapter describes experimental methods to characterize the functional properties of rs746432 (Ala87), a synonymous polymorphism in estrogen receptor alpha (ERα). Using transient transfection assays in HepG2 and HeLa cells with luciferase reporter constructs, the authors demonstrated that the Ala87 mutation reduces ERα transactivation efficiency on ERE-driven promoters while enhancing 4-OHT-induced transactivation on AP-1-driven promoters, suggesting the synonymous mutation affects protein conformation and transcriptional function.
▶Common germline polymorphisms in COMT, CYP19A1, ESR1, PGR, SULT1E1 and STS and survival after a diagnosis of breast cancerAssociationN=4,470Miriam S. Udler et al.(2009)· International Journal of Cancer
This population-based study of 4,470 breast cancer cases from the SEARCH cohort examined associations between germline polymorphisms in 6 steroid hormone metabolism genes (COMT, CYP19A1, ESR1, PGR, SULT1E1, STS) and survival after breast cancer diagnosis. A COMT polymorphism (rs4818) showed significant association with survival in a dominant model (HR=0.80, 95% CI: 0.69-0.95, p=0.009), though this was only marginally significant after permutation adjustment (p=0.047). No significant associations were found in the other genes studied.
About ESR1
This gene encodes an estrogen receptor and ligand-activated transcription factor. The canonical protein contains an N-terminal ligand-independent transactivation domain, a central DNA binding domain, a hinge domain, and a C-terminal ligand-dependent transactivation domain. The protein localizes to the nucleus where it may form either a homodimer or a heterodimer with estrogen receptor 2. The protein encoded by this gene regulates the transcription of many estrogen-inducible genes that play a role in growth, metabolism, sexual development, gestation, and other reproductive functions and is expressed in many non-reproductive tissues. The receptor encoded by this gene plays a key role in breast cancer, endometrial cancer, and osteoporosis. This gene is reported to have dozens of transcript variants due to the use of alternate promoters and alternative splicing, however, the full-length nature of many of these variants remain uncertain. [provided by RefSeq, Jul 2020]
View all ESR1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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