Gene: ESR1
Alternate names for this Gene: ER|ESR|ESRA|ESTRR|Era|NR3A1
Gene Summary: 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.
Gene is located in Chromosome: 6
Location in Chromosome : 6q25.1-q25.2
Description of this Gene: estrogen receptor 1
Type of Gene: protein-coding
rs10872678 in
ESR1 gene and
Birth Weight
PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.
PMID 27680694 2016 Genome-wide associations for birth weight and correlations with adult disease.
rs2982708 in
ESR1 gene and
Body Fat Distribution
PMID 30664634 2019 Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.
rs2071454 in
ESR1 gene and
Body Height
PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.
PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
PMID 25282103 2014 Defining the role of common variation in the genomic and biological architecture of adult human height.
PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.
rs11155811 in
ESR1 gene and
Bone Density
PMID 19801982 2009 Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
PMID 19079262 2009 New sequence variants associated with bone mineral density.
PMID 18445777 2008 Multiple genetic loci for bone mineral density and fractures.
PMID 29304378 2018 Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.
rs2747652 in
ESR1 gene and
Breast Carcinoma
PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.
PMID 22976474 2012 A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.
rs11446767 in
ESR1 gene and
Breast size
PMID 29855537 2018 Japanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-coding RNAs.
rs7766549 in
ESR1 gene and
Diastolic blood pressure
PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.
rs397509428 in
ESR1 gene and
ESTROGEN RESISTANCE
PMID 27754803 2017 Familial Multiplicity of Estrogen Insensitivity Associated With a Loss-of-Function ESR1 Mutation.
PMID 23841731 2013 Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant.
rs2206949 in
ESR1 gene and
Endometriosis
PMID 28537267 2017 Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism.
rs2982712 in
ESR1 gene and
Height
PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
PMID 21194676 2011 Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.
PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.
rs9341023 in
ESR1 gene and
High density lipoprotein measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
rs9322332 in
ESR1 gene and
Lean body mass
PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.
rs9340907 in
ESR1 gene and
Low density lipoprotein cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
rs796065354 in
ESR1 gene and
Malignant neoplasm of breast
PMID 17545528 2007 Here, we have optimized the detection of a somatic mutation, an A908G transition of ERalpha, and examined its association with clinical and biological features of invasive breast cancer.
PMID 23236557 2013 A population-based case-control study was conducted in 150 newly diagnosed invasive breast cancer and 147 healthy control individuals controls to screen for presence of the ER-α A908G mutation by using single-strand conformation polymorphism (SSCP) analysis and 33Pcycle DNA sequencing.
PMID 17553133 2007 There was also the suggestion that longer duration of oral contraceptive (OC) use (OR = 3.73, 95% CI = 1.16 to 12.03; Ptrend = 0.02 for use of more than 10 years) and recent use of OCs (OR = 3.63, 95% CI = 0.80 to 16.45; Ptrend = 0.10 for use within 10 years) were associated with ESR1 A908G mutation-positive breast cancer; however, ORs for comparison of the two case subgroups were not statistically significant.
PMID 10945602 2000 A hypersensitive estrogen receptor-alpha mutation in premalignant breast lesions.
PMID 16280033 2005 This population-based study, the largest so far to screen for the ER-alpha A908G mutation in breast cancer, confirms the presence of the mutant in invasive breast tumors.
PMID 22976474 2012 A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.
rs1057519714 in
ESR1 gene and
Mammary Neoplasms
PMID 24185512 2013 ESR1 ligand-binding domain mutations in hormone-resistant breast cancer.
PMID 24185510 2013 Activating ESR1 mutations in hormone-resistant metastatic breast cancer.
PMID 24398047 2014 Emergence of constitutively active estrogen receptor-α mutations in pretreated advanced estrogen receptor-positive breast cancer.
rs9341023 in
ESR1 gene and
Serum HDL cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
rs9340907 in
ESR1 gene and
Serum LDL cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
rs9340907 in
ESR1 gene and
Serum total cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
rs2982694 in
ESR1 gene and
Sudden Cardiac Arrest
PMID 21658281 2011 GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
rs2982694 in
ESR1 gene and
Sudden Cardiac Death
PMID 21658281 2011 GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
rs13192976 in
ESR1 gene and
Systolic Pressure
PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.
rs7768330 in
ESR1 gene and
Triglycerides measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.