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.


Annotated Labels

  1. FDA Label for anastrozole and ESR1,ESR2,PGR
  2. FDA Label for tamoxifen and ESR1,ESR2,F2,F5
  3. EMA Label for fulvestrant and ESR1,ESR2,MKI67
  4. PMDA Label for fulvestrant and ESR1,ESR2
  5. HCSC Label for anastrozole and ESR1,ESR2,PGR
  6. HCSC Label for exemestane and ESR1,ESR2
  7. HCSC Label for letrozole and ESR1,ESR2,PGR
  8. HCSC Label for tamoxifen and CYP2D6,ESR1,ESR2









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

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 variant annotations for ESR2

Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available CA VA
rs10140457 NC_000014.8:g.64716693A>C, NC_000014.9:g.64249975A>C, NG_011535.1:g.93576T>G, NM_001040275.1:c.1092-296T>G, NM_001214902.1:c.1092-296T>G, NM_001214903.1:c.1092-296T>G, NM_001271876.1:c.1092-296T>G, NM_001271877.1:c.952+10474T>G, NM_001291712.1:c.1092-296T>G, NM_001291723.1:c.1092-296T>G, NM_001437.2:c.1092-296T>G, NR_073496.1:n.1696-296T>G, NR_073497.1:n.1060-296T>G, NR_073505.1:n.1835-296T>G, XM_011536545.1:c.1092-296T>G, XM_011536546.1:c.1092-296T>G, rs58367654
A > C
SNP
No VIP available No Clinical Annotations available VA
rs10148269 NC_000014.8:g.64736924A>G, NC_000014.9:g.64270206A>G, NG_011535.1:g.73345T>C, NM_001040275.1:c.536-1295T>C, NM_001214902.1:c.536-1295T>C, NM_001214903.1:c.536-1295T>C, NM_001271876.1:c.536-1295T>C, NM_001271877.1:c.536-1295T>C, NM_001291712.1:c.536-1295T>C, NM_001291723.1:c.536-1295T>C, NM_001437.2:c.536-1295T>C, NR_073496.1:n.1279-1295T>C, NR_073497.1:n.453-1295T>C, NR_073505.1:n.1279-1295T>C, XM_011536545.1:c.536-1295T>C, XM_011536546.1:c.536-1295T>C, rs61327453
A > G
SNP
No VIP available No Clinical Annotations available VA
rs1152580 NC_000014.8:g.64694994T>G, NC_000014.9:g.64228276T>G, NG_011535.1:g.115275A>C, NG_011756.1:g.380312T>G, NM_001040275.1:c.1407-662A>C, NM_001214902.1:c.1407-347A>C, NM_001271876.1:c.1407-231A>C, NM_001291712.1:c.1407-662A>C, NM_001291723.1:c.1407-662A>C, NR_073496.1:n.2011-662A>C, NR_073505.1:n.2150-662A>C, XM_011536545.1:c.1406+6694A>C, rs17225899
T > G
SNP
No VIP available No Clinical Annotations available VA
rs12435857 NC_000014.8:g.64723525G>A, NC_000014.9:g.64256807G>A, NG_011535.1:g.86744C>T, NM_001040275.1:c.1091+419C>T, NM_001214902.1:c.1091+419C>T, NM_001214903.1:c.1091+419C>T, NM_001271876.1:c.1091+419C>T, NM_001271877.1:c.952+3642C>T, NM_001291712.1:c.1091+419C>T, NM_001291723.1:c.1091+419C>T, NM_001437.2:c.1091+419C>T, NR_073496.1:n.1695+3642C>T, NR_073497.1:n.1059+419C>T, NR_073505.1:n.1834+419C>T, XM_011536545.1:c.1091+419C>T, XM_011536546.1:c.1091+419C>T, rs58049166
G > A
SNP
No VIP available No Clinical Annotations available VA
rs1256031 NC_000014.8:g.64746179G>A, NC_000014.9:g.64279461G>A, NG_011535.1:g.64090C>T, NM_001040275.1:c.535+520C>T, NM_001214902.1:c.535+520C>T, NM_001214903.1:c.535+520C>T, NM_001271876.1:c.535+520C>T, NM_001271877.1:c.535+520C>T, NM_001291712.1:c.535+520C>T, NM_001291723.1:c.535+520C>T, NM_001437.2:c.535+520C>T, NR_073496.1:n.1278+520C>T, NR_073497.1:n.452+3163C>T, NR_073505.1:n.1278+520C>T, XM_011536545.1:c.535+520C>T, XM_011536546.1:c.535+520C>T, rs17179712, rs386524921, rs61056083, rs61491502
G > A
SNP
No VIP available No Clinical Annotations available VA
rs1256049 NC_000014.8:g.64724051C>T, NC_000014.9:g.64257333C>T, NG_011535.1:g.86218G>A, NM_001040275.1:c.984G>A, NM_001214902.1:c.984G>A, NM_001214903.1:c.984G>A, NM_001271876.1:c.984G>A, NM_001271877.1:c.952+3116G>A, NM_001291712.1:c.984G>A, NM_001291723.1:c.984G>A, NM_001437.2:c.984G>A, NP_001035365.1:p.Val328=, NP_001201831.1:p.Val328=, NP_001201832.1:p.Val328=, NP_001258805.1:p.Val328=, NP_001278641.1:p.Val328=, NP_001278652.1:p.Val328=, NP_001428.1:p.Val328=, NR_073496.1:n.1695+3116G>A, NR_073497.1:n.952G>A, NR_073505.1:n.1727G>A, XM_011536545.1:c.984G>A, XM_011536546.1:c.984G>A, XP_011534847.1:p.Val328=, XP_011534848.1:p.Val328=, rs17225976, rs386524925, rs60892953
C > -
C > T
SNP
V328V
No VIP available No Clinical Annotations available VA
rs1256061 NC_000014.8:g.64703593G>T, NC_000014.9:g.64236875G>T, NG_011535.1:g.106676C>A, NM_001040275.1:c.1226-1725C>A, NM_001214902.1:c.1226-1725C>A, NM_001214903.1:c.1226-1725C>A, NM_001271876.1:c.1226-1725C>A, NM_001271877.1:c.953-1725C>A, NM_001291712.1:c.1226-1725C>A, NM_001291723.1:c.1226-1725C>A, NM_001437.2:c.1226-1725C>A, NR_073496.1:n.1830-1725C>A, NR_073497.1:n.1194-1725C>A, NR_073505.1:n.1969-1725C>A, XM_011536545.1:c.1226-1725C>A, XM_011536546.1:c.1226-1725C>A, rs17179537, rs52828228, rs60634364
G > T
SNP
No VIP available No Clinical Annotations available VA
rs1256064 NC_000014.8:g.64700739A>G, NC_000014.9:g.64234021A>G, NG_011535.1:g.109530T>C, NM_001040275.1:c.1406+949T>C, NM_001214902.1:c.1406+949T>C, NM_001271876.1:c.1406+949T>C, NM_001271877.1:c.1134-698T>C, NM_001291712.1:c.1406+949T>C, NM_001291723.1:c.1406+949T>C, NM_001437.2:c.1407-698T>C, NR_073496.1:n.2010+949T>C, NR_073497.1:n.1375-698T>C, NR_073505.1:n.2149+949T>C, XM_011536545.1:c.1406+949T>C, XM_011536546.1:c.1407-698T>C, rs386524927, rs61545073
A > G
SNP
No VIP available No Clinical Annotations available VA
rs1256120 NC_000014.8:g.64805001A>G, NC_000014.9:g.64338283A>G, NG_011535.1:g.5268T>C, NM_001291712.1:c.-1461T>C, NM_001291723.1:c.-476T>C, NR_073496.1:n.268T>C, NR_073505.1:n.268T>C, XM_011536546.1:c.-1792T>C, rs117363295, rs1742152, rs60272954
A > -
A > G
SNP
No VIP available No Clinical Annotations available VA
rs17179740 NC_000014.8:g.64756751G>A, NC_000014.9:g.64290033G>A, NG_011535.1:g.53518C>T, NM_001040275.1:c.-91+4000C>T, NM_001291712.1:c.-90-6958C>T, NM_001291723.1:c.-90-6958C>T, NM_001437.2:c.-91+4000C>T, NR_073496.1:n.654-6958C>T, NR_073505.1:n.654-6958C>T, XM_011536545.1:c.-91+4000C>T, XM_011536546.1:c.-90-6958C>T, rs58763396
G > A
SNP
No VIP available No Clinical Annotations available VA
rs1952586 NC_000014.8:g.64759419T>C, NC_000014.9:g.64292701T>C, NG_011535.1:g.50850A>G, NM_001040275.1:c.-91+1332A>G, NM_001291712.1:c.-91+4832A>G, NM_001291723.1:c.-90-9626A>G, NM_001437.2:c.-91+1332A>G, NR_073496.1:n.654-9626A>G, NR_073505.1:n.654-9626A>G, XM_011536545.1:c.-91+1332A>G, XM_011536546.1:c.-91+8667A>G, rs386550251, rs57804327
T > C
SNP
No VIP available No Clinical Annotations available VA
rs3020445 NC_000014.8:g.64788644A>G, NC_000014.9:g.64321926A>G, NG_011535.1:g.21625T>C, NM_001291712.1:c.-768+14487T>C, NM_001291723.1:c.-91+15972T>C, NR_073496.1:n.653+15972T>C, NR_073505.1:n.653+15972T>C, XM_011536546.1:c.-601-12743T>C, rs4899133, rs58948913, rs6573556
A > G
SNP
No VIP available CA VA
rs4986938 NC_000014.8:g.64699816C>T, NC_000014.9:g.64233098C>T, NG_011535.1:g.110453G>A, NM_001040275.1:c.1406+1872G>A, NM_001214902.1:c.1406+1872G>A, NM_001271876.1:c.1406+1872G>A, NM_001271877.1:c.*39G>A, NM_001291712.1:c.1406+1872G>A, NM_001291723.1:c.1406+1872G>A, NM_001437.2:c.*39G>A, NR_073496.1:n.2010+1872G>A, NR_073497.1:n.1600G>A, NR_073505.1:n.2149+1872G>A, XM_011536545.1:c.1406+1872G>A, XM_011536546.1:c.*39G>A, rs17766687, rs386597008
C > -
C > T
SNP
No VIP available No Clinical Annotations available VA
rs8017441 NC_000014.8:g.64715794A>G, NC_000014.9:g.64249076A>G, NG_011535.1:g.94475T>C, NM_001040275.1:c.1225+470T>C, NM_001214902.1:c.1225+470T>C, NM_001214903.1:c.1225+470T>C, NM_001271876.1:c.1225+470T>C, NM_001271877.1:c.952+11373T>C, NM_001291712.1:c.1225+470T>C, NM_001291723.1:c.1225+470T>C, NM_001437.2:c.1225+470T>C, NR_073496.1:n.1829+470T>C, NR_073497.1:n.1193+470T>C, NR_073505.1:n.1968+470T>C, XM_011536545.1:c.1225+470T>C, XM_011536546.1:c.1225+470T>C, rs52802016, rs60923277
A > G
SNP
No VIP available CA VA
rs944050 NC_000014.8:g.64700045T>C, NC_000014.9:g.64233327T>C, NG_011535.1:g.110224A>G, NM_001040275.1:c.1406+1643A>G, NM_001214902.1:c.1406+1643A>G, NM_001271876.1:c.1406+1643A>G, NM_001271877.1:c.1134-4A>G, NM_001291712.1:c.1406+1643A>G, NM_001291723.1:c.1406+1643A>G, NM_001437.2:c.1407-4A>G, NR_073496.1:n.2010+1643A>G, NR_073497.1:n.1375-4A>G, NR_073505.1:n.2149+1643A>G, XM_011536545.1:c.1406+1643A>G, XM_011536546.1:c.1407-4A>G, rs58894804
T > C
SNP
No VIP available No Clinical Annotations available VA
rs944459 NC_000014.8:g.64699358C>T, NC_000014.9:g.64232640C>T, NG_011535.1:g.110911G>A, NM_001040275.1:c.1406+2330G>A, NM_001214902.1:c.1406+2330G>A, NM_001271876.1:c.1406+2330G>A, NM_001271877.1:c.*497G>A, NM_001291712.1:c.1406+2330G>A, NM_001291723.1:c.1406+2330G>A, NM_001437.2:c.*497G>A, NR_073496.1:n.2010+2330G>A, NR_073497.1:n.2058G>A, NR_073505.1:n.2149+2330G>A, XM_011536545.1:c.1406+2330G>A, XM_011536546.1:c.*497G>A, rs17225913, rs60195561
C > T
SNP
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

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

Visualization

UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.

View on UCSC Browser
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.
No related genes are available

Curated Information ?

Curated Information ?

Publications related to ESR2: 20

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Synthesis of Triphenylethylene Bisphenols as Aromatase Inhibitors That Also Modulate Estrogen Receptors. Journal of medicinal chemistry. 2016. Lv Wei, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Associations between genetic variants and the effect of letrozole and exemestane on bone mass and bone turnover. Breast cancer research and treatment. 2015. Oesterreich Steffi, 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
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 CA VA No VIP available No VIP available
Effect of genetic polymorphisms on therapeutic response and clinical outcomes in pancreatic cancer patients treated with gemcitabine. Pharmacogenomics. 2012. Woo Hye In, 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

Common Searches