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Aliases for ESR2 Gene

Aliases for ESR2 Gene

  • Estrogen Receptor 2 2 3
  • Estrogen Receptor 2 (ER Beta) 2 3 5
  • Nuclear Receptor Subfamily 3 Group A Member 2 3 4
  • ER Beta 2 3
  • ER-BETA 3 4
  • ESTRB 3 4
  • NR3A2 3 4
  • Estrogen Receptor Beta 4 3
  • ESR-BETA 3
  • ESRB 3
  • Erb 3

External Ids for ESR2 Gene

Previous GeneCards Identifiers for ESR2 Gene

  • GC14M062021
  • GC14M058487
  • GC14M062683
  • GC14M062685
  • GC14M063621
  • GC14M063763
  • GC14M064693
  • GC14M044866
  • GC14M064550

Summaries for ESR2 Gene

Entrez Gene Summary for ESR2 Gene

  • 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 Summary for ESR2 Gene

ESR2 (Estrogen Receptor 2) is a Protein Coding gene. Diseases associated with ESR2 include gender identity disorder and transsexualism. Among its related pathways are Gene Expression and Integrated Pancreatic Cancer Pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and enzyme binding. An important paralog of this gene is AR.

UniProtKB/Swiss-Prot for ESR2 Gene

  • 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.

Tocris Summary for ESR2 Gene

  • Estrogen controls many cellular processes including growth, differentiation and function of the reproductive system. Estrogen is also responsible for the growth and maintenance of the skeleton and the normal function of the cardiovascular and nervous systems.

Gene Wiki entry for ESR2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ESR2 Gene

Genomics for ESR2 Gene

Regulatory Elements for ESR2 Gene

Promoters for ESR2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ESR2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the ESR2 gene promoter:

Genomic Location for ESR2 Gene

Chromosome:
14
Start:
64,084,232 bp from pter
End:
64,338,550 bp from pter
Size:
254,319 bases
Orientation:
Minus strand

Genomic View for ESR2 Gene

Genes around ESR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ESR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ESR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ESR2 Gene

Proteins for ESR2 Gene

  • Protein details for ESR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92731-ESR2_HUMAN
    Recommended name:
    Estrogen receptor beta
    Protein Accession:
    Q92731
    Secondary Accessions:
    • A8K8K5
    • G3V5M5
    • O60608
    • O60685
    • O60702
    • O60703
    • O75583
    • O75584
    • Q0MWT5
    • Q0MWT6
    • Q86Z31
    • Q9UEV6
    • Q9UHD3
    • Q9UQK9

    Protein attributes for ESR2 Gene

    Size:
    530 amino acids
    Molecular mass:
    59216 Da
    Quaternary structure:
    • Binds DNA as a homodimer. Can form a heterodimer with ESR1. Interacts with NCOA1, NCOA3, NCOA5 and NCOA6 coactivators, leading to a strong increase of transcription of target genes. Interacts with PELP1 and UBE1C. Isoform 2 preferentially forms a heterodimer with ESR1 rather than ESR2 and inhibits DNA-binding by ESR1. Interacts with AKAP13. Interacts with DNTTIP2. Interacts with isoform 4 of TXNRD1. Interacts with CCDC62 in the presence of estradiol/E2; this interaction seems to enhance the transcription of target genes, including cyclin-D1/CCND1 AP-1 promoter. Interacts with DYX1C1 (By similarity). Interacts with PRMT2. Interacts with CCAR2 (via N-terminus) in a ligand-independent manner.
    SequenceCaution:
    • Sequence=CAA67555.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ESR2 Gene

    Alternative splice isoforms for ESR2 Gene

neXtProt entry for ESR2 Gene

Proteomics data for ESR2 Gene at MOPED

Post-translational modifications for ESR2 Gene

Antibody Products

No data available for DME Specific Peptides for ESR2 Gene

Domains & Families for ESR2 Gene

Gene Families for ESR2 Gene

Graphical View of Domain Structure for InterPro Entry

Q92731

UniProtKB/Swiss-Prot:

ESR2_HUMAN :
  • Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.
  • Belongs to the nuclear hormone receptor family. NR3 subfamily.
Domain:
  • Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.
  • Contains 1 nuclear receptor DNA-binding domain.
Family:
  • Belongs to the nuclear hormone receptor family. NR3 subfamily.
genes like me logo Genes that share domains with ESR2: view

Function for ESR2 Gene

Molecular function for ESR2 Gene

GENATLAS Biochemistry:
estrogen receptor beta,steroid/thyroid receptor superfamily,with several alternatively spliced isoforms (hER beta 1-5),expressed in thymus,spleen,ovary and testis, not rearranged in uterine leiomyomata,see ULCR14
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for ESR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001046 core promoter sequence-specific DNA binding IDA 15345745
GO:0005515 protein binding IPI 11279242
GO:1903924 estradiol binding IEA --
genes like me logo Genes that share ontologies with ESR2: view
genes like me logo Genes that share phenotypes with ESR2: view

Animal Models for ESR2 Gene

MGI Knock Outs for ESR2:

Animal Model Products

miRNA for ESR2 Gene

miRTarBase miRNAs that target ESR2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ESR2 Gene

Localization for ESR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ESR2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ESR2 Gene COMPARTMENTS Subcellular localization image for ESR2 gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
plasma membrane 3
cytoskeleton 2
cytosol 2
endoplasmic reticulum 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for ESR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 15024130
genes like me logo Genes that share ontologies with ESR2: view

Pathways & Interactions for ESR2 Gene

genes like me logo Genes that share pathways with ESR2: view

SIGNOR curated interactions for ESR2 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ESR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001662 behavioral fear response IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA,TAS 11181953
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0007611 learning or memory IEA --
genes like me logo Genes that share ontologies with ESR2: view

Drugs & Compounds for ESR2 Gene

(118) Drugs for ESR2 Gene - From: Novoseek, IUPHAR, DGIdb, DrugBank, HMDB, ApexBio, Tocris, FDA Approved Drugs, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Diethylstilbestrol Approved Pharma Agonist, agonist, Target 5
Estriol Approved Pharma Agonist, agonist, Target 0
Estradiol Approved, Investigational Pharma agonist, Target Sex hormone 1094
Fulvestrant Approved, Investigational Pharma Antagonist, inhibitor, antagonist Estrogen receptor antagonist,high affinity, Hormone therapy 173
Tamoxifen Approved Pharma Antagonist, antagonist, Biomarker, Target, agonist ER antagonist, Anti-Estrogens 350

(63) Additional Compounds for ESR2 Gene - From: Novoseek, IUPHAR, Tocris, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
17beta-estradiol
Agonist
4-hydroxy?aetamoxifen
Antagonist
N-Desmethyltamoxifen
31750-48-8
17a-Estradiol
  • 1,3,5-Estratriene-3,17a-diol
  • 13b-Methyl-1,3,5(10)-gonatriene-3,17a-diol
  • 17-Epiestradiol
  • 17a-Oestradiol
  • 3,17-Dihydroxyestratriene
57-91-0
DPN
1428-67-7

(5) Tocris Compounds for ESR2 Gene

Compound Action Cas Number
alpha-Estradiol Endogenous estrogen receptor agonist 57-91-0
Daidzein Arrests cell cycle in G1 phase 486-66-8
DPN Highly potent ERbeta agonist 1428-67-7
DY131 Agonist selective for estrogen-related receptors ERRbeta and ERRgamma 95167-41-2
PPT Subtype-selective ERalpha agonist 263717-53-9

(23) ApexBio Compounds for ESR2 Gene

Compound Action Cas Number
Altrenogest 850-52-2
Bazedoxifene HCl 198480-56-7
Clomiphene citrate 50-41-9
Diethylstilbestrol 56-53-1
Equol 531-95-3
Erteberel (LY500307) 533884-09-2
Estradiol Sex hormone 50-28-2
Estradiol Cypionate 313-06-4
Estriol 50-27-1
Estrone Estrogenic hormone 53-16-7
Ethinyl Estradiol Oral contraceptive 57-63-6
Ethisterone Progestogen hormone 434-03-7
Ethynodiol diacetate 297-76-7
Fulvestrant Estrogen receptor antagonist,high affinity 129453-61-8
Gestodene 60282-87-3
Hexestrol 84-16-2
Medroxyprogesterone acetate Steroidal progestin 71-58-9
Mestranol Estrogen used in contraceptives 72-33-3
Ospemifene 128607-22-7
Raloxifene HCl Estrogen receptor (ER) 82640-04-8
Tamoxifen Citrate Antiestrogen drug 54965-24-1
Toremifene Citrate 89778-27-8
Ulipristal 159811-51-5
genes like me logo Genes that share compounds with ESR2: view

Drug Products

Transcripts for ESR2 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for ESR2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b · 16c · 16d ^
SP1: -
SP2: - - - - -
SP3: - - - - - - - - - - - - - -
SP4: -
SP5: -
SP6: - - -
SP7:
SP8: - - - -
SP9: - - - - - -
SP10: -
SP11: - - - -

ExUns: 17a · 17b · 17c · 17d
SP1:
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for ESR2 Gene

GeneLoc Exon Structure for
ESR2
ECgene alternative splicing isoforms for
ESR2

Expression for ESR2 Gene

mRNA expression in normal human tissues for ESR2 Gene

mRNA differential expression in normal tissues according to GTEx for ESR2 Gene

This gene is overexpressed in Adrenal Gland (x5.6), Ovary (x5.2), and Testis (x4.9).

Protein differential expression in normal tissues from HIPED for ESR2 Gene

This gene is overexpressed in Heart (47.1) and Adipocyte (19.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ESR2 Gene



SOURCE GeneReport for Unigene cluster for ESR2 Gene Hs.660607

mRNA Expression by UniProt/SwissProt for ESR2 Gene

Q92731-ESR2_HUMAN
Tissue specificity: Isoform 1 is expressed in testis and ovary, and at a lower level in heart, brain, placenta, liver, skeletal muscle, spleen, thymus, prostate, colon, bone marrow, mammary gland and uterus. Also found in uterine bone, breast, and ovarian tumor cell lines, but not in colon and liver tumors. Isoform 2 is expressed in spleen, thymus, testis and ovary and at a lower level in skeletal muscle, prostate, colon, small intestine, leukocytes, bone marrow, mammary gland and uterus. Isoform 4 is found in testis. Isoform 5 is expressed in testis, and at a lower level in spleen, thymus, ovary, mammary gland and uterus. Isoform 6 is expressed in testis, placenta, skeletal muscle, spleen and leukocytes, and at a lower level in heart, lung, liver, kidney, pancreas, thymus, prostate, colon, small intestine, bone marrow, mammary gland and uterus. Not expressed in brain.
genes like me logo Genes that share expression patterns with ESR2: view

Protein tissue co-expression partners for ESR2 Gene

Primer Products

In Situ Assay Products

Orthologs for ESR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ESR2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ESR2 35
  • 87.29 (n)
  • 88.43 (a)
ESR2 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ESR2 35
  • 87.86 (n)
  • 89.06 (a)
ESR2 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Esr2 35
  • 84.65 (n)
  • 88.68 (a)
Esr2 16
Esr2 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ESR2 35
  • 99.62 (n)
  • 99.25 (a)
ESR2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Esr2 35
  • 85.36 (n)
  • 88.66 (a)
oppossum
(Monodelphis domestica)
Mammalia ESR2 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ESR2 36
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves ESR2 35
  • 74.78 (n)
  • 80.7 (a)
ESR2 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ESR2 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia esr2 35
  • 68.58 (n)
  • 70.44 (a)
LOC394460 35
zebrafish
(Danio rerio)
Actinopterygii esr2a 35
esr2b 35
  • 61.61 (n)
  • 63.34 (a)
esr2a 36
  • 52 (a)
OneToMany
esr2b 36
  • 48 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11634 35
fruit fly
(Drosophila melanogaster)
Insecta ERR 36
  • 26 (a)
OneToMany
Species with no ortholog for ESR2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ESR2 Gene

ENSEMBL:
Gene Tree for ESR2 (if available)
TreeFam:
Gene Tree for ESR2 (if available)

Paralogs for ESR2 Gene

Paralogs for ESR2 Gene

genes like me logo Genes that share paralogs with ESR2: view

Variants for ESR2 Gene

Sequence variations from dbSNP and Humsavar for ESR2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs928554 -- 64,227,477(-) CTTCA(A/G)TTTCC intron-variant, nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs941697 -- 64,338,973(-) CTTAA(A/G)GGAAA upstream-variant-2KB
rs867442 -- 64,234,135(+) tgaag(C/G)aatcT intron-variant
rs867443 -- 64,234,324(+) CTCCA(A/G)GGCAA intron-variant
rs1109056 -- 64,234,712(-) TTATA(C/G)CCTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ESR2 Gene

Variant ID Type Subtype PubMed ID
esv2748779 CNV Deletion 23290073
nsv902019 CNV Gain 21882294
nsv456326 CNV Gain 19166990
nsv902021 CNV Loss 21882294
nsv524908 CNV Gain 19592680
nsv1307 CNV Loss 18451855
esv2351050 CNV Deletion 18987734
esv2748782 CNV Deletion 23290073

Variation tolerance for ESR2 Gene

Residual Variation Intolerance Score: 52.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.13; 38.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ESR2 Gene

HapMap Linkage Disequilibrium report
ESR2
Human Gene Mutation Database (HGMD)
ESR2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ESR2 Gene

Disorders for ESR2 Gene

MalaCards: The human disease database

(52) MalaCards diseases for ESR2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
gender identity disorder
  • psychosexual identity disorder
transsexualism
serous cystadenocarcinoma
  • serous adenocarcinoma
cystadenocarcinoma
  • cystadenocarcinoma nos
mental depression
  • depression
- elite association - COSMIC cancer census association via MalaCards
Search ESR2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ESR2

Genetic Association Database (GAD)
ESR2
Human Genome Epidemiology (HuGE) Navigator
ESR2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ESR2
genes like me logo Genes that share disorders with ESR2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ESR2 Gene

Publications for ESR2 Gene

  1. Tamoxifen-induced ER-alpha-SRC-3 interaction in HER2 positive human breast cancer; a possible mechanism for ER isoform specific recurrence. (PMID: 17158759) Mc Ilroy M. … Young L.S. (Endocr. Relat. Cancer 2006) 3 23 25 26
  2. ER beta: identification and characterization of a novel human estrogen receptor. (PMID: 8769313) Mosselman S. … Dijkema R. (FEBS Lett. 1996) 2 3 4 67
  3. Estrogen receptor genotypes, menopausal status, and the effects of tamoxifen on lipid levels: revised and updated results. (PMID: 20827267) Hayes D.F. … Flockhart D.A. (Clin. Pharmacol. Ther. 2010) 3 25 26
  4. Final amended report on the safety assessment of Methylparaben, Ethylparaben, Propylparaben, Isopropylparaben, Butylparaben, Isobutylparaben, and Benzylparaben as used in cosmetic products. (PMID: 19101832) (Int. J. Toxicol. 2008) 23 25 26
  5. Estrogen receptor beta expression is associated with tamoxifen response in ERalpha-negative breast carcinoma. (PMID: 17404078) Gruvberger-Saal S.K. … FernAP M. (Clin. Cancer Res. 2007) 23 25 26

Products for ESR2 Gene

Sources for ESR2 Gene

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