ESR2 Chromosome 14

Estrogen receptor 2
4 variants 4 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
Estrogen receptors
Locus Type
gene with protein product
Location
14q23.2-q23.3
Ensembl
ENSG00000140009
Associated Conditions (1)
Ovarian dysgenesis 8
Key Variants
All Variants (4)
RSID Category Clinical Significance Conditions
RS188329310 Health Risk Conflicting classifications of pathogenicity
RS750091675 Health Risk Conflicting classifications of pathogenicity
RS76299711 Health Risk Conflicting classifications of pathogenicity
RS1567753148 Health Risk Pathogenic Ovarian dysgenesis 8, Ovarian dysgenesis 8
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