ESR2

Gene Information
 
Gene Symbol
ESR2
 
Aliases
ER-BETA, ESR-BETA, ESRB, ESTRB, Erb, NR3A2
 
Entrez Gene ID
 
Gene Name
Estrogen receptor 2 (ER beta)
 
Chromosomal Location
14q21-q22
 
HGNC ID
 
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)
 
GeneCards ID
 
UniGene
 
RefSeq DNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0000122 Biological process Negative regulation of transcription from RNA polymerase II promoter IDA 15345745
GO:0006355 Biological process Regulation of transcription, DNA-templated TAS 11181953
GO:0007165 Biological process Signal transduction TAS 10749889
GO:0007267 Biological process Cell-cell signaling TAS 8769313
GO:0030308 Biological process Negative regulation of cell growth NAS 11181953
Protein Information
 
Protein Name
Estrogen receptor beta 4, nuclear receptor subfamily 3 group A member 2
 
Function
Nuclear hormone receptor. Binds estrogens with an affinity similar to that of ESR1, and activates expression of reporter genes containing estrogen response elements (ERE) in an estrogen-dependent manner. Isoform beta-cx lacks ligand binding ability and has no or only very low ere binding activity resulting in the loss of ligand-dependent transactivation ability. DNA-binding by ESR1 and ESR2 is rapidly lost at 37 degrees Celsius in the absence of ligand while in the presence of 17 beta-estradiol and 4-hydroxy-tamoxifen loss in DNA-binding at elevated temperature is more gradual
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00104 Hormone_recep Ligand-binding domain of nuclear hormone receptor
PF00105 zf-C4 Zinc finger, C4 type (two domains)
PF12497 ERbeta_N Estrogen receptor beta
 
OMIM

Associated Diseases

Diseases References
Endometrial hyperplasia 16677694
Infertility
Polycystic ovary syndrome (PCOS) 19185861
   
References
 
Primary:

Expression of GPR30, ERalpha and ERbeta in endometrium during window of implantation in patients with polycystic ovary syndrome: a pilot study.

Wang Aiming, Ji Lijuan, Shang Wei, Li Min, Chen Lei, White Richard E, Han Guichun
Department of Obstetrics and Gynecology, Navy General Hospital, Beijing 10048, PRC. one_army@sohu.com
Gynecol Endocrinol. 2011 Apr;27(4):251-5. doi: 10.3109/09513590.2010.487584. Epub
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
ERalpha 
Abnormal follicular development 
 
NIH 
Related 
 
The results of this study demonstrate that there are significant alterations in the expression of ERalpha and ERbeta in PCOS that may be related to abnormal follicular development. 
Androgen receptor (AR), estrogen receptor alpha (ERalpha), co-activators AIB1 and ARA70 
Endometrial hyperplasia 
 
 
Related 
 
The PCOS endometrium exhibits a higher sensitivity to steroid action. We can inferred that these alterations could deregulate the transcription of genes involved in the cell cycle, which may lead to the development of endometrial hyperplasia in PCOS women. 
 
 
ER-beta gene +1730 G/A polymorphism 
Rotterdam criteria 
Related 
 
The ER-beta gene +1730 G/A polymorphism may be associated with pathophysiologic aberrancies involved in PCOS 
ER and the novel G protein-coupled ER (GPR30) 
Infertility 
 
 
Related 
Chinese- 15 PCOS and 15 controls 
The study proposes that restored receptor expression might improve endometrial receptivity and help lower infertility associated with PCOS. 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
25100445
Genetic polymorphisms in Pakistani women with polycystic ovary syndrome. 
Clinical study 
23614677
Genetic polymorphisms in Pakistani women with polycystic ovary syndrome. 
Clinical study 
22337865
Electrical and manual acupuncture stimulation affect oestrous cyclicity and neuroendocrine function in an 5??-dihydrotestosterone-induced rat polycystic ovary syndrome model. 
Effect of treatment 

 

| © 2015, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
Tel: 91-22-24192104, Fax No: 91-22-24139412