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Gene Symbol |
ESR2 |
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Aliases |
ER-BETA, ESR-BETA, ESRB, ESTRB, Erb, NR3A2, ODG8 |
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Entrez Gene ID |
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Gene Name |
Estrogen receptor 2 |
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Chromosomal Location |
14q23.2-q23.3 |
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HGNC ID |
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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]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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Gene Ontology (GO)
GO ID |
Ontology |
Function |
Evidence |
Reference |
GO:0000122 |
Biological process |
Negative regulation of transcription by RNA polymerase II |
IDA |
15345745 |
GO:0006355 |
Biological process |
Regulation of transcription, DNA-templated |
TAS |
11181953 |
GO:0007165 |
Biological process |
Signal transduction |
TAS |
8769313, 10749889 |
GO:0007267 |
Biological process |
Cell-cell signaling |
TAS |
8769313 |
GO:0030308 |
Biological process |
Negative regulation of cell growth |
NAS |
11181953 |
GO:0030520 |
Biological process |
Intracellular estrogen receptor signaling pathway |
TAS |
11181953 |
GO:0045893 |
Biological process |
Positive regulation of transcription, DNA-templated |
IDA |
20074560 |
GO:0051091 |
Biological process |
Positive regulation of DNA-binding transcription factor activity |
IDA |
10681512 |
GO:0005634 |
Cellular component |
Nucleus |
IDA |
19126643, 20074560 |
GO:0005634 |
Cellular component |
Nucleus |
TAS |
11181953 |
GO:0005739 |
Cellular component |
Mitochondrion |
IDA |
15024130 |
GO:0000978 |
Molecular function |
RNA polymerase II proximal promoter sequence-specific DNA binding |
IDA |
15345745 |
GO:0000981 |
Molecular function |
DNA-binding transcription factor activity, RNA polymerase II-specific |
ISM |
19274049 |
GO:0000981 |
Molecular function |
DNA-binding transcription factor activity, RNA polymerase II-specific |
NAS |
19274049 |
GO:0003677 |
Molecular function |
DNA binding |
TAS |
9636657 |
GO:0003700 |
Molecular function |
DNA-binding transcription factor activity |
TAS |
8769313 |
GO:0003707 |
Molecular function |
Steroid hormone receptor activity |
TAS |
10749889 |
GO:0003713 |
Molecular function |
Transcription coactivator activity |
TAS |
8769313 |
GO:0004879 |
Molecular function |
Nuclear receptor activity |
IDA |
19126643 |
GO:0004879 |
Molecular function |
Nuclear receptor activity |
NAS |
9671811 |
GO:0005496 |
Molecular function |
Steroid binding |
TAS |
11181953 |
GO:0005515 |
Molecular function |
Protein binding |
IPI |
11279242, 12904255, 14764652, 15199063, 19022902, 19126643, 20074560, 21629692, 21951318, 25416956 |
GO:0019899 |
Molecular function |
Enzyme binding |
IPI |
12039952 |
GO:0030284 |
Molecular function |
Estrogen receptor activity |
IDA |
19126643 |
GO:0030284 |
Molecular function |
Estrogen receptor activity |
IMP |
29261182, 30113650 |
GO:0030284 |
Molecular function |
Estrogen receptor activity |
TAS |
11181953 |
GO:0034056 |
Molecular function |
Estrogen response element binding |
IDA |
15345745, 19126643 |
GO:0042802 |
Molecular function |
Identical protein binding |
IPI |
19022902, 21182203, 21951318 |
GO:0048019 |
Molecular function |
Receptor antagonist activity |
NAS |
9671811 |
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Protein Information |
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Protein Name |
Estrogen receptor beta, estrogen receptor beta 4, estrogen receptor beta splice variant, ERbeta2delta7, estrogen receptor beta splice variant, ERbeta4delta7, estrogen receptor beta splice variant, ERbeta6, estrogen receptor beta splice variant, ERbeta6delta7, estrogen receptor beta splice variant, ERbeta7, estrogen receptor beta splice variant, ERbeta7delta7, estrogen receptor beta splice variant, ERbetaEx. 4L, estrogen receptor beta splice variant, ERbetaEx. 6L, nuclear receptor subfamily 3 group A member 2, oestrogen receptor beta |
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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 (PubMed:20074560). 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. |
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UniProt |
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PDB |
1L2J, 1NDE, 1QKM, 1U3Q, 1U3R, 1U3S, 1U9E, 1X76, 1X78, 1X7B, 1X7J, 1YY4, 1YYE, 1ZAF, 2FSZ, 2GIU, 2I0G, 2JJ3, 2NV7, 2QTU, 2YJD, 2YLY, 2Z4B, 3OLL, 3OLS, 3OMO, 3OMP, 3OMQ, 4J24, 4J26, 4ZI1, 5TOA |
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Interactions |
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STRING |
MINT |
IntAct |
ENSP00000280357 |
Q14116 |
Q14116 |
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View interactions
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Associated Diseases
Disease group | Disease Name | References |
Cardiovascular Diseases |
Arteriosclerosis |
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Coronary heart disease |
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Ear Or Mastoid Diseases |
Meniere Disease |
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Endocrine System Diseases |
PCOS |
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Neoplasms |
Medulloblastoma |
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Prostate cancer |
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Carcinoma |
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Bladder Cancer |
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Astrocytoma |
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Breast Cancer |
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Adenocarcinoma |
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Colorectal Cancer |
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Anaplastic Carcinoma |
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Endometrial Cancer |
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Childhood Cerebral Astrocytoma |
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Intracranial Astrocytoma |
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Cerebral Astrocytoma |
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Cribriform Carcinoma |
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Prostate Carcinoma |
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Prostatic Intraepithelial Neoplasias |
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Grade I Astrocytoma |
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Oligoastrocytoma |
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Psychiatric/Brain disorders |
Schizophrenia |
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Mental Depression |
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Eating Disorders |
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Reproductive disorders |
Endometrioma |
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Endometriosis |
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Subfertility, Female |
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References |
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PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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ERalpha |
Abnormal follicular development |
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NIH |
Related
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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. |
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Androgen receptor (AR), estrogen receptor alpha (ERalpha), co-activators AIB1 and ARA70 |
Endometrial hyperplasia |
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Related
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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. |
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ER-beta gene +1730 G/A polymorphism |
Rotterdam criteria |
Related
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The ER-beta gene +1730 G/A polymorphism may be associated with pathophysiologic aberrancies involved in PCOS |
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ER and the novel G protein-coupled ER (GPR30) |
Infertility |
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Related
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Chinese- 15 PCOS and 15 controls |
The study proposes that restored receptor expression might improve endometrial receptivity and help lower infertility associated with PCOS. |
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