ESR2 estrogen receptor 2
Gene ID: 2100, updated on 11-Apr-2024Gene type: protein coding
Also known as: Erb; ESRB; ODG8; ESTRB; NR3A2; ER-BETA; ESR-BETA
- See all available tests in GTR for this gene
- Go to complete Gene record for ESR2
- Go to Variation Viewer for ESR2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Meta-analysis identifies six new susceptibility loci for atrial fibrillation. GeneReviews: Not available | |
| Ovarian dysgenesis 8 | See labs |
Genomic context
- Location:
- 14q23.2-q23.3
- Sequence:
- Chromosome: 14; NC_000014.9 (64226707..64338613, complement)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ESR2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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