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ESR1 estrogen receptor 1

Gene ID: 2099, updated on 3-Dec-2022
Gene type: protein coding
Also known as: ER; ESR; Era; ESRA; ESTRR; NR3A1

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. [provided by RefSeq, Jul 2020]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
A genome-wide association study identifies novel loci associated with susceptibility to chronic myeloid leukemia.
GeneReviews: Not available
Estrogen resistance syndrome
MedGen: C3809250OMIM: 615363GeneReviews: Not available
See labs
Familial cancer of breastSee labs
Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.
GeneReviews: Not available
Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure.
GeneReviews: Not available
Genetic variants associated with breast size also influence breast cancer risk.
GeneReviews: Not available
Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
GeneReviews: Not available
Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.
GeneReviews: Not available
Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1.
GeneReviews: Not available
Genome-wide association study identifies five new breast cancer susceptibility loci.
GeneReviews: Not available
Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.
GeneReviews: Not available
Genome-wide association study in east Asians identifies novel susceptibility loci for breast cancer.
GeneReviews: Not available
Genome-wide association study of alcohol dependence.
GeneReviews: Not available
Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25.
GeneReviews: Not available
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
GeneReviews: Not available
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
GeneReviews: Not available
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
GeneReviews: Not available
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
GeneReviews: Not available
Migraine with or without aura, susceptibility to, 1
MedGen: C3887485OMIM: 157300GeneReviews: Not available
See labs
Multiple genetic loci for bone mineral density and fractures.
GeneReviews: Not available
Myocardial infarction, susceptibility to
MedGen: C1832662OMIM: 608446GeneReviews: Not available
See labs
New sequence variants associated with bone mineral density.
GeneReviews: Not available
Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
GeneReviews: Not available
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
GeneReviews: Not available

Genomic context

Location:
6q25.1-q25.2
Sequence:
Chromosome: 6; NC_000006.12 (151656672..152129619)
Total number of exons:
22

Links

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