ESR1 estrogen receptor 1
Gene ID: 2099, updated on 10-Dec-2024Gene type: protein coding
Also known as: ER; ESR; Era; ESRA; ESTRR; NR3A1
- See all available tests in GTR for this gene
- Go to complete Gene record for ESR1
- Go to Variation Viewer for ESR1 variants
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
| Description | Tests |
|---|---|
| A genome-wide association study identifies novel loci associated with susceptibility to chronic myeloid leukemia. GeneReviews: Not available | |
| Estrogen resistance syndrome | not available |
| Familial cancer of breast MedGen: C0346153OMIM: 114480GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer | not available |
| 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 | not available |
| Multiple genetic loci for bone mineral density and fractures. GeneReviews: Not available | |
| Myocardial infarction, susceptibility to | not available |
| 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
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ESR1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- ESR1 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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