rs10137185

This is a intron variant variant in the ESR2 gene.

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Research that mentions this SNP (1)

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Association of variants in estrogen‐related pathway genes with prostate cancer risk
AssociationN=2,570Sarah K. Holt et al.(2013)· The Prostate

Population-based case-control study of 1,304 prostate cancer cases and 1,266 controls examining 73 SNPs in five estrogen pathway genes (ESR1, ESR2, CYP19A1, CYP1A1, CYP1B1). Only CYP1B1 rs1056836 (Val158Met) retained significance after multiple comparisons adjustment (OR=1.22, 95% CI 1.02-1.46, p=0.004). ESR1, CYP1A1, and CYP1B1 variants showed nominal associations with prostate cancer risk, and ESR2/CYP19A1 variants associated with tumor aggressiveness, though these did not persist after correction.

Traits studied:Aggressive prostate cancerGleason scoreProstate cancerProstate cancer riskTumor stage
PubMedDOIMetascience Observatory

About ESR2

This gene encodes a member of the family of estrogen receptors and superfamily of nuclear receptor transcription factors. The gene product contains an N-terminal DNA binding domain and C-terminal ligand binding domain and is localized to the nucleus, cytoplasm, and mitochondria. Upon binding to 17beta-estradiol or related ligands, the encoded protein forms homo- or hetero-dimers that interact with specific DNA sequences to activate transcription. Some isoforms dominantly inhibit the activity of other estrogen receptor family members. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been fully characterized. [provided by RefSeq, Jul 2008]

View all ESR2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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