Gene:
ESR2
estrogen receptor 2 (ER beta)

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB annotates drug labels containing pharmacogenetic information approved by the US Food and Drug Administration (FDA), European Medicines Agency (EMA) and the Pharmaceuticals and Medical Devices Agency, Japan (PMDA). PharmGKB annotations provide a brief summary of the PGx in the label, an excerpt from the label and a downloadable highlighted label PDF file. A list of genes and phenotypes found within the label is mapped to label section headers and listed at the end of each annotation. PharmGKB also attempts to interpret the level of action implied in each label with the "PGx Level" tag.

Sources:

  • FDA Information is gathered from the FDA's "Table of Pharmacogenomic Biomarkers in Drug Labels" and from FDA-approved labels brought to our attention. Please note that drugs may be removed from or added to the FDA's Table without our knowledge. We periodically check the Table for changes and update PharmGKB accordingly. Drugs listed on the Table to our knowledge are tagged with the Biomarker icon. A drug label that has been removed from the Table will not have the Biomarker icon but will continue to have an annotation on PharmGKB stating the label has been removed from the FDA's Table. We acquire label PDF files from DailyMed.
  • EMA European Public Assessment Reports (EPARs) that contain PGx information were identified from [Article:24433361] and also by searching for drugs for which we have PGx-containing FDA drug labels.

We welcome any information regarding drug labels containing PGx information approved by the FDA, EMA, PMDA or other Medicine Agencies around the world - please contact feedback.



last updated 12/16/2013

FDA Label for anastrozole and ESR1, ESR2, PGR

Genetic testing required

Summary

Anastrozole (ARIMIDEX) is an aromatase inhibitor indicated for use in postmenopausal women as an adjuvant treatment for hormone receptor-positive early breast cancer, as a first-line treatment for hormone receptor-positive or hormone receptor unknown locally advanced or metastatic breast cancer, or to treat advanced breast cancer with disease progression following tamoxifen therapy.

There's more of this label. Read more.


last updated 10/25/2013

FDA Label for exemestane and ESR1, ESR2

Genetic testing required

Summary

Aromasin is an aromatase inhibitor indicated for adjuvant treatment of postmenopausal women with estrogen-receptor positive early breast cancer who have received two to three years of tamoxifen.

There's more of this label. Read more.


last updated 10/25/2013

FDA Label for fulvestrant and ESR1, ESR2

Genetic testing required

Summary

Fulvestrant is used to treat hormone-receptor positive breast cancer in postmenopausal women whose disease has spread after treatment with an antiestrogen medicine.

There's more of this label. Read more.


last updated 01/16/2014

FDA Label for tamoxifen and ESR1, ESR2, F2, F5

Actionable PGx

Summary

Tamoxifen is an anti-estrogen used in the treatment and prevention of breast neoplasms particularly those with estrogen receptor positive breast cancer.

There's more of this label. Read more.




PharmGKB contains no Clinical Variants that meet the highest level of criteria.

To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the table.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

? = Mouse-over for quick help

This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

List of all ESR2 variant annotations

Variant?
(142)
Alternate Names ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available VA
rs10148269 45736924A>G, 536-1295T>C, 64736924A>G, 73345T>C
A > G
Intronic
No VIP available No Clinical Annotations available VA
rs1152580 115275A>C, 1407-347A>C, 1407-662A>C, 380312T>G, 45694994T>G, 64694994T>G
T > G
Intronic
No VIP available No Clinical Annotations available VA
rs12435857 1091+419C>T, 45723525G>A, 64723525G>A, 86744C>T
G > A
Intronic
No VIP available No Clinical Annotations available VA
rs1256031 45746179G>A, 535+520C>T, 64090C>T, 64746179G>A, ESR2:rs1256031
G > A
Intronic
No VIP available No Clinical Annotations available VA
rs1256049 45724051C>T, 64724051C>T, 86218G>A, 984G>A, ESR2:1082G>A, ESR2:Val328Val, ESR2:rs1256049, Val328=
C > T
Not Available
Val328Val
No VIP available No Clinical Annotations available VA
rs1256061 106676C>A, 1226-1725C>A, 45703593G>T, 64703593G>T
G > T
Intronic
No VIP available No Clinical Annotations available VA
rs1256064 109530T>C, 1406+949T>C, 1407-698T>C, 45700739A>G, 64700739A>G
A > G
Intronic
No VIP available No Clinical Annotations available VA
rs1256120 -476T>C, 45805001A>G, 5268T>C, 64805001A>G
A > G
Not Available
No VIP available No Clinical Annotations available VA
rs17179740 -90-6958C>T, -91+4000C>T, 45756751G>A, 53518C>T, 64756751G>A
G > A
Intronic
No VIP available No Clinical Annotations available VA
rs1952586 -90-9626A>G, -91+1332A>G, 45759419T>C, 50850A>G, 64759419T>C
T > C
Intronic
No VIP available No Clinical Annotations available VA
rs3020445 -91+15972T>C, 21625T>C, 45788644A>G, 64788644A>G
A > G
Intronic
No VIP available CA VA
rs4986938 *39G>A, 110453G>A, 1406+1872G>A, 45699816C>T, 64699816C>T, ESR2-02, ESR2:1730A>G, ESR2:rs4986938
C > T
Not Available
No VIP available No Clinical Annotations available VA
rs8017441 1225+470T>C, 45715794A>G, 64715794A>G, 94475T>C
A > G
Intronic
No VIP available No Clinical Annotations available VA
rs944459 *497G>A, 110911G>A, 1406+2330G>A, 45699358C>T, 64699358C>T
C > T
3' Flanking
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 142

Overview

Alternate Names:  None
Alternate Symbols:  Erb; NR3A2
PharmGKB Accession Id: PA27886

Details

Cytogenetic Location: chr14 : q23.2 - q23.3
GP mRNA Boundary: chr14 : 64693751 - 64805268
GP Gene Boundary: chr14 : 64690751 - 64815268
Strand: minus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

  1. Aromatase Inhibitor Pathway (Breast Cell), Pharmacodynamics
    Summary of pathways of estrogens and antiestrogens.

External Pathways

Links to non-PharmGKB pathways.

  1. Plasma membrane estrogen receptor signaling - (Pathway Interaction Database NCI-Nature Curated)
No related genes are available

Curated Information ?

Curated Information ?

Publications related to ESR2: 17

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Aromatase inhibitor-induced modulation of breast density: clinical and genetic effects. British journal of cancer. 2013. Henry N L, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genetic associations with toxicity-related discontinuation of aromatase inhibitor therapy for breast cancer. Breast cancer research and treatment. 2013. Henry N Lynn, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The future of pharmacogenetics for osteoporosis. Pharmacogenomics. 2013. Marini Francesca, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Indications of clinical and genetic predictors for aromatase inhibitors related musculoskeletal adverse events in Chinese Han women with breast cancer. PloS one. 2013. Wang Jingxuan, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Whole genome amplification of DNA for genotyping pharmacogenetics candidate genes. Frontiers in pharmacology. 2012. Philips Santosh, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Functional Characterization of a Genetic Polymorphism in the Promoter of the ESR2 Gene. Hormones & cancer. 2011. Philips Santosh, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Gender-specific genomic profiling in metastatic colorectal cancer patients treated with 5-fluorouracil and oxaliplatin. Pharmacogenomics. 2011. Gordon Michael A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
The effect of ESR1 and ESR2 gene polymorphisms on the outcome of rheumatoid arthritis treatment with leflunomide. Pharmacogenomics. 2011. Dziedziejko Violetta, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenetics of osteoporosis-related bone fractures: moving towards the harmonization and validation of polymorphism diagnostic tools. Pharmacogenomics. 2010. Rojo Venegas Karen, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Polymorphisms of caffeine metabolism and estrogen receptor genes and risk of Parkinson's disease in men and women. Parkinsonism & related disorders. 2010. Palacios N, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Gender-related survival differences associated with polymorphic variants of estrogen receptor-beta (ERbeta) in patients with metastatic colon cancer. The pharmacogenomics journal. 2010. Press O A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Lack of association between oestrogen receptor polymorphisms and change in bone mineral density with tamoxifen therapy. British journal of cancer. 2010. Henry N L, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Associations of the estrogen receptors 1 and 2 gene polymorphisms with the metabolic syndrome in women. Metabolic syndrome and related disorders. 2009. Goulart Alessandra C, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Estrogen receptor genotypes influence hot flash prevalence and composite score before and after tamoxifen therapy. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2008. Jin Yan, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Estrogen receptor genotypes, menopausal status, and the lipid effects of tamoxifen. Clinical pharmacology and therapeutics. 2008. Ntukidem N I, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
No major effect of estrogen receptor beta gene RsaI polymorphism on bone mineral density and response to alendronate therapy in postmenopausal osteoporosis. The Journal of steroid biochemistry and molecular biology. 2002. Arko Barbara, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Association of estrogen receptor beta (ESR2) gene polymorphism with blood pressure. Journal of human genetics. 2000. Ogawa S, et al. PubMed

LinkOuts

UniProtKB:
Q7LCB3_HUMAN (Q7LCB3)
ESR2_HUMAN (Q92731)
Ensembl:
ENSG00000140009
GenAtlas:
ESR2
GeneCard:
ESR2
MutDB:
ESR2
ALFRED:
LO019642W
HuGE:
ESR2
Comparative Toxicogenomics Database:
2100
ModBase:
Q9UEV6
HumanCyc Gene:
HS06675
HGNC:
3468

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