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50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ESR2
estrogen receptor 2
Chromosome 14 · 14q23.2-q23.3
NCBI Gene: 2100Ensembl: ENSG00000140009.19HGNC: HGNC:3468UniProt: A0A348FV93
1,277PubMed Papers
21Diseases
34Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneReceptorTranscription Factor
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase II cis-regulatory region sequence-specific DNA bindingnuclear receptor activityprotein bindingenzyme bindingbreast cancerosteoporosispostmenopausal osteoporosismenopause
✦AI Summary

ESR2 (estrogen receptor beta) is a nuclear receptor that mediates estrogen signaling in various tissues, though the provided UniProt summary notes it has reduced ligand binding and ERE binding capacity compared to ESR1. In normal physiology, ESR2 is predominantly expressed in the brain and regulates reproductive and non-reproductive functions 1. ESR2 operates through the estrogen receptor signaling pathway, controlling transcription via RNA polymerase II binding to estrogen response elements and regulating both positive and negative transcriptional processes [Gene Ontology annotations]. In reproductive tissues, ESR2 contributes to endometriosis pathogenesis; endometriotic stromal cells show abnormally elevated ESR2 levels relative to ESR1, promoting estrogen-driven inflammation and prostaglandin formation that facilitates lesion development and progression 23. ESR2 signaling also regulates ferroptosis in fibroblast-like synoviocytes through the ESR2/LPAR3/Nrf2 axis, with therapeutic implications for knee osteoarthritis pain management 4. Genetically, ESR2 polymorphisms show population-specific associations: the rs4986938 variant exhibits protective effects against dementia in Asian populations 5, while rs1256030 associates with breast cancer susceptibility in the Mexican population 6. ESR2 variants also influence assisted reproduction outcomes, with the AluI GG genotype associated with ovarian hyperstimulation syndrome 7. These diverse functions establish ESR2 as a clinically relevant target for endometriosis, dementia prevention, and cancer risk stratification.

Sources cited
1
ESR2 is one of the main nuclear receptors regulating male reproductive and non-reproductive organs; ESR2 shows unique tissue distributions and actions in males
PMID: 28539434
2
Endometriotic stromal cells show abnormally elevated ESR2 levels that promote estrogen-driven inflammation and prostaglandin formation in endometriosis
PMID: 30809650
3
ERβ (ESR2) promotes migration of endometrial stromal cells in endometriosis partially through inflammatory microenvironment; NLRC5 overexpression inhibits ERβ-mediated development of endometriosis
PMID: 39218863
4
LXA4 activates the ESR2/LPAR3/Nrf2 axis to inhibit fibroblast-like synoviocyte ferroptosis, alleviating knee osteoarthritis pain and pathological progression
PMID: 38754271
5
ESR2 rs4986938 polymorphism is significantly associated with reduced dementia risk in the Asian population; A allele carriers show protective effects against dementia
PMID: 32335869
6
ESR2 rs1256030 variant (TT genotype) is associated with increased breast cancer susceptibility and cellular proliferation in the Mexican population
PMID: 35573183
7
ESR2 AluI GG genotype is associated with ovarian hyperstimulation syndrome in assisted reproduction; ESR2 RsaI GG genotype associated with longer induction period in IVF
PMID: 25526766
Disease Associationsⓘ21
breast cancerOpen Targets
0.62Moderate
osteoporosisOpen Targets
0.61Moderate
postmenopausal osteoporosisOpen Targets
0.60Moderate
menopauseOpen Targets
0.59Moderate
AtrophyOpen Targets
0.57Moderate
DyspareuniaOpen Targets
0.53Moderate
neoplasmOpen Targets
0.52Moderate
primary ovarian insufficiencyOpen Targets
0.51Moderate
atrial fibrillationOpen Targets
0.49Moderate
breast carcinomaOpen Targets
0.48Moderate
hypogonadismOpen Targets
0.47Moderate
postmenopausal atrophic vaginitisOpen Targets
0.46Moderate
cancerOpen Targets
0.45Moderate
major depressive disorderOpen Targets
0.45Moderate
schizophreniaOpen Targets
0.44Moderate
prostate cancerOpen Targets
0.42Moderate
breast neoplasmOpen Targets
0.41Moderate
familial medullary thyroid carcinomaOpen Targets
0.40Weak
Alzheimer diseaseOpen Targets
0.38Weak
Emery-Dreifuss muscular dystrophyOpen Targets
0.38Weak
Ovarian dysgenesis 8UniProt
Pathogenic Variants1
NM_001437.3(ESR2):c.941A>G (p.Lys314Arg)Pathogenic
Ovarian dysgenesis 8
☆☆☆☆2018→ Residue 314
View on ClinVar ↗
Drug Targets34
ACOLBIFENEPhase III
Estrogen receptor modulator
breast cancer
AFIMOXIFENEPhase II
Estrogen-related receptor gamma antagonist
breast cancer
ARZOXIFENEApproved
Estrogen receptor modulator
breast cancer
AUS-131Phase II
Estrogen receptor beta agonist
BAZEDOXIFENEApproved
Estrogen receptor modulator
osteopetrosis
BAZEDOXIFENE ACETATEApproved
Estrogen receptor modulator
osteoporosis
CHF4227Phase I
Estrogen receptor modulator
osteoporosis
CHLOROTRIANISENEPhase III
Estrogen receptor beta modulator
hepatocellular carcinoma
CYCLOFENILApproved
Estrogen receptor modulator
infertility
DIETHYLSTILBESTROL DIPHOSPHATEApproved
Estrogen receptor agonist
DROLOXIFENEPhase II
Estrogen receptor modulator
breast cancer
ERTEBERELPhase II
Estrogen receptor beta agonist
benign prostatic hyperplasia
ESTETROLApproved
Estrogen receptor agonist
ESTETROL ANHYDROUSUNKNOWN
Estrogen receptor agonist
contraception
ESTRAMUSTINE PHOSPHATEPhase II
Estrogen receptor beta modulator
prostate cancer
ESTRAMUSTINE PHOSPHATE SODIUMApproved
Estrogen receptor beta modulator
carcinoma
ESTRIOLApproved
Estrogen receptor modulator
ESTROGENS, CONJUGATEDApproved
Estrogen receptor agonist
Atrophy
ESTROGENS, CONJUGATED SYNTHETIC AApproved
Estrogen receptor agonist
Atrophy
ESTROGENS, ESTERIFIEDApproved
Estrogen receptor agonist
breast cancer
FISPEMIFENEPhase II
Estrogen receptor modulator
hypogonadism
IDOXIFENEPhase III
Estrogen receptor modulator
breast cancer
LASOFOXIFENEApproved
Estrogen receptor modulator
osteoporosis
LASOFOXIFENE TARTRATEApproved
Estrogen receptor modulator
postmenopausal osteoporosis
MF101Phase III
Estrogen receptor beta agonist
MK-6913Phase II
Estrogen receptor agonist
OSPEMIFENEApproved
Estrogen receptor modulator
PRINABERELPhase II
Estrogen receptor beta agonist
inflammatory bowel disease
QUINESTROLApproved
Estrogen receptor agonist
breast cancer
RALOXIFENEApproved
Estrogen receptor beta modulator
osteoporosis
RALOXIFENE HYDROCHLORIDEApproved
Estrogen receptor beta modulator
SYNTHETIC CONJUGATED ESTROGENS, BApproved
Estrogen receptor agonist
Atrophy
TOREMIFENEApproved
Estrogen receptor modulator
breast cancer
TOREMIFENE CITRATEApproved
Estrogen receptor modulator
breast cancer
Related Genes
OXTRProtein interaction100%NCOA1Protein interaction100%UBE3AProtein interaction100%PTGES3Protein interaction100%NCOA2Protein interaction100%MAPK14Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
18%
Lung
15%
Liver
11%
Heart
9%
Brain
5%
Gene Interaction Network
Click a node to explore
ESR2OXTRNCOA1UBE3APTGES3NCOA2MAPK14
PROTEIN STRUCTURE
Preparing viewer…
PDB3OLL · 1.50 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.00LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.76 [0.58–1.00]
RankingsWhere ESR2 stands among ~20K protein-coding genes
  • #111of 20,598
    Most Researched1,277 · top 1%
  • #78of 1,025
    FDA-Approved Drug Targets20 · top 10%
  • #4,602of 5,498
    Most Pathogenic Variants1
  • #9,685of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedESR2
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
NLRC5 exerts anti-endometriosis effects through inhibiting ERβ-mediated inflammatory response.
PMID: 39218863
BMC Med · 2024
1.00
2
Estrogen receptor beta (ESR2) gene polymorphism and susceptibility to dementia.
PMID: 32335869
Acta Neurol Belg · 2021
0.90
3
Calponin 2 regulates ketogenesis to mitigate acute kidney injury.
PMID: 37751293
JCI Insight · 2023
0.88
4
Unique ESR1 and ESR2 estrogen receptor gene variants associated with altered risk of triple-negative breast cancer: A case-control study.
PMID: 36261089
Gene · 2023
0.82
5
Estradiol regulates MBOAT1-mediated ferroptosis and participates in the progression of endometriosis.
PMID: 40983106
J Obstet Gynaecol Res · 2025
0.80