ESR2 (Estrogen Receptor 2) Gene
A comprehensive biomedical overview of the ESR2 gene, its protein product, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | ESR2 |
|---|---|
| Full Name | Estrogen Receptor 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q23.2 |
| NCBI Gene ID | 2100 ncbi.nlm.nih.gov/gene/2100 |
| Ensembl ID | ENSG00000140009 |
| UniProt ID | Q92731 |
| OMIM ID | 601663 |
| HGNC ID | 3468 |
| Aliases | ER-beta, ESR-BETA, ESTRB, Erb, NR3A2 |
Description
The ESR2 gene encodes estrogen receptor beta (ERβ), a nuclear receptor that mediates the effects of estrogen. It is involved in various physiological processes including reproduction, bone density, and cell proliferation. ESR2 is expressed in multiple tissues and has been implicated in several cancers and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered ESR2 expression and signaling may influence tumor progression and response to therapy. | ClinVar, COSMIC |
| Prostate cancer | Loss of ESR2 expression is associated with aggressive disease. | COSMIC, PubMed |
| Endometriosis | Differential expression of ESR2 in endometrial tissue contributes to disease pathogenesis. | PubMed |
| Osteoporosis | ESR2 polymorphisms affect bone mineral density and fracture risk. | ClinVar, PubMed |
| Cardiovascular disease | ESR2 mediates estrogen's protective effects on the vasculature; variants may alter risk. | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | 0.8 | Low |
| Prostate | 1.2 | Low |
| Uterus | 2.5 | Medium |
| Ovary | 3.1 | Medium |
| Testis | 1.0 | Low |
| Bone marrow | 0.5 | Low |
| Lung | 0.3 | Low |
| Liver | 0.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 1.5 | ERβ expression lower than ERα |
| T47D (breast cancer) | 1.8 | Moderate expression |
| LNCaP (prostate cancer) | 2.0 | Expressed; loss correlates with aggressiveness |
| HepG2 (liver cancer) | 0.4 | Low expression |
| A549 (lung cancer) | 0.2 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1256049 (R318W) | Missense | ~5% in some populations | Alters receptor function; associated with altered cancer risk |
| rs4986938 (G/A in 3' UTR) | Regulatory | ~20% allele frequency | May affect mRNA stability and expression levels |
| c.949G>A (V317M) | Missense | Rare | Potential loss of function; reported in cancer samples |
| c.1121C>T (P374L) | Missense | Rare | Unknown functional impact; found in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in ESR2 are rare but may reduce estrogen signaling, potentially contributing to cancer progression or resistance to endocrine therapy.
Gain of Function (GOF)
Gain-of-function mutations are not well documented; however, some variants may increase receptor activity and promote cell proliferation.
Dominant Negative (DN)
Dominant-negative effects have been suggested for certain ESR2 splice variants, which can inhibit wild-type receptor function.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • Estrogen response element binding | • Steroid hormone receptor activity |
| • Zinc ion binding | • Nuclear receptor activity |
| • Transcription coregulator binding | • Protein homodimerization activity |
| • Protein heterodimerization activity | • Chromatin binding |
Pathways
• Estrogen signaling pathway
• Progesterone-mediated oocyte maturation
• Pathways in cancer
• Endocrine resistance
• Thyroid hormone signaling pathway
• Neuroactive ligand-receptor interaction
Protein Summary
Estrogen receptor beta (ERβ) is a nuclear receptor that binds estrogen and regulates gene expression. It functions as a transcription factor, often opposing the proliferative effects of ERα. ERβ is involved in cell differentiation, apoptosis, and anti-inflammatory responses. It is expressed in various tissues, including reproductive organs, bone, and brain. Post-translational modifications and splice variants modulate its activity. ERβ is a therapeutic target in cancer and other diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ESR2 Knockout HEK293 Cell Line | EDJ-KQ2775 | Human | 2100 | Details Get a Quote |
| ESR2 Knockout HeLa Cell Line | EDJ-KQ53175 | Human | 2100 | Details Get a Quote |
| ESR2 Knockout A-549 Cell Line | EDJ-KQ61655 | Human | 2100 | Details Get a Quote |
| ESR2 Knockout HCT 116 Cell Line | EDJ-KQ70136 | Human | 2100 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
