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Aliases for ESR2 Gene

Aliases for ESR2 Gene

  • Estrogen Receptor 2 (ER Beta) 2 3
  • Nuclear Receptor Subfamily 3 Group A Member 2 3 4
  • ER-BETA 3 4
  • ESTRB 3 4
  • NR3A2 3 4
  • Estrogen Receptor Beta 4 3
  • Estrogen Receptor Beta 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 (ER Beta)) is a Protein Coding gene. Diseases associated with ESR2 include gender identity disorder and serous cystadenocarcinoma. Among its related pathways are ERK Signaling and GPCR Pathway. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription coactivator activity. 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. 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. In females, estrogen's main targets are the ovaries, uterus, vagina and mammary glands. In the male, target organs are the testes, prostate and epididymis. Estrogen is also responsible for the growth and maintenance of the skeleton and the normal functioning of the cardiovascular and nervous systems. Estrogen exerts most of its actions via estrogen receptors (ER). Estrogen receptors are ligand-activated transcription factors belonging to the nuclear hormone receptor superfamily. Today, two estrogen receptors are known, ERalpha and ERbeta. ERalpha protein is highly homologous to ERbeta protein, especially in the DNA and ligand binding domains, although divergence exists in the N-terminal transactivation domain. Both receptors interact with the same DNA response element and show a similar ligand binding profile. Upon ligand binding estrogen receptors undergo a conformational change allowing spontaneous dimerization to form either homo- or heterodimers. As a dimer, the estrogen receptor binds to the estrogen response element (ERE) in the promoter region of target genes. ERalpha and ERbeta which are present in a broad spectrum of tissues.

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

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ESR2 Gene

Start:
64,084,232 bp from pter
End:
64,338,580 bp from pter
Size:
254,349 bases
Orientation:
Minus strand

Genomic View for ESR2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 beta-2/cx 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.
    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 for ESR2 Gene

Gene Families for ESR2 Gene

HGNC:
  • NR :Nuclear hormone receptors
IUPHAR :

Suggested Antigen Peptide Sequences for ESR2 Gene

Graphical View of Domain Structure for InterPro Entry

Q92731

UniProtKB/Swiss-Prot:

ESR2_HUMAN :
  • Q92731
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. 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:0003677 DNA binding TAS 9636657
GO:0003700 sequence-specific DNA binding transcription factor activity TAS 8769313
GO:0003707 steroid hormone receptor activity TAS 10749889
GO:0003713 transcription coactivator activity TAS 8769313
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

CRISPR Products

miRNA for ESR2 Gene

miRTarBase miRNAs that target ESR2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
mitochondrion 5
nucleus 5
extracellular 4
plasma membrane 2
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ESR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 9671811
GO:0005634 nucleus TAS 11181953
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm --
GO:0005739 mitochondrion IDA 15024130
genes like me logo Genes that share ontologies with ESR2: view

Pathways for ESR2 Gene

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

PCR Array Products

Gene Ontology (GO) - Biological Process for ESR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 15345745
GO:0001541 ovarian follicle development IEA --
GO:0001764 neuron migration IEA --
GO:0006351 transcription, DNA-templated --
GO:0006355 regulation of transcription, DNA-templated TAS 11181953
genes like me logo Genes that share ontologies with ESR2: view

Compounds for ESR2 Gene

(5) Tocris Compounds for ESR2 Gene

Compound Action Cas Number
ICI 182,780 Estrogen receptor antagonist [129453-61-8]
(Z)-4-Hydroxytamoxifen Metabolite of tamoxifen (Cat. No. 0999) [68047-06-3]
DPN Highly potent ERbeta agonist [1428-67-7]
PHTPP Selective ERbeta antagonist [805239-56-9]
PPT Subtype-selective ERalpha agonist [263717-53-9]

(1) HMDB Compounds for ESR2 Gene

Compound Synonyms Cas Number PubMed IDs
Estradiol
  • (+)-3,17b-Estradiol
50-28-2

(14) IUPHAR Ligand for ESR2 Gene

Ligand Type Action Affinity Pubmed IDs
fulvestrant Antagonist Antagonist 9.6
raloxifene Antagonist Antagonist 9.5
WAY200070 Agonist Full agonist 9
estriol Agonist Agonist 8.67
diarylpropionitril Agonist Agonist 8.6
estrone Agonist Agonist 8.5
R,R-THC Agonist Agonist 8.38
tamoxifen Antagonist Antagonist 7.8
HPTE Antagonist Antagonist 7.64
4-hydroxy?aetamoxifen Antagonist Antagonist 7.5
diethylstilbestrol Antagonist Antagonist 5.3
17beta-estradiol Agonist Agonist
genistein Activator None
PHTPP Antagonist Antagonist

(108) Novoseek inferred chemical compound relationships for ESR2 Gene

Compound -log(P) Hits PubMed IDs
estrogen 96.1 348
4-hydroxytamoxifen 85.1 31
estradiol 84.7 127
tamoxifen 81.9 119
fulvestrant 80.1 9

(4) PharmGKB related drug/compound annotations for ESR2 Gene

Drug/compound Annotation
anastrozole
exemestane
fulvestrant
tamoxifen CA
genes like me logo Genes that share compounds with ESR2: view

Transcripts for ESR2 Gene

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ESR2

Primer Products

Flow Cytometry Products

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 (5.6), Ovary (5.2), and Testis (4.9).

Integrated Proteomics: protein expression 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 beta-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 beta-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 beta-3 is found in testis. Isoform beta-4 is expressed in testis, and at a lower level in spleen, thymus, ovary, mammary gland and uterus. Isoform beta-5 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 expressions with ESR2: view

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
chimpanzee
(Pan troglodytes)
Mammalia ESR2 35
  • 99.62 (n)
  • 99.25 (a)
ESR2 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia ESR2 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ESR2 36
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Esr2 35
  • 85.36 (n)
  • 88.66 (a)
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
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11634 35
zebrafish
(Danio rerio)
Actinopterygii esr2a 35
esr2a 36
  • 52 (a)
OneToMany
esr2b 35
  • 61.61 (n)
  • 63.34 (a)
esr2b 36
  • 48 (a)
OneToMany
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 MAF
rs867442 -- 64,234,135(+) tgaag(C/G)aatcT intron-variant
rs867443 -- 64,234,324(+) CTCCA(A/G)GGCAA intron-variant
rs928554 -- 64,227,477(-) CTTCA(A/G)TTTCC utr-variant-3-prime, downstream-variant-500B, nc-transcript-variant, intron-variant
rs941697 -- 64,338,973(-) CTTAA(A/G)GGAAA upstream-variant-2KB
rs944045 -- 64,234,728(-) TTTCA(A/G)TTGCT intron-variant, downstream-variant-500B

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

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

(93) Novoseek inferred disease relationships for ESR2 Gene

Disease -log(P) Hits PubMed IDs
breast cancer 79 274
endometrial cancer 65.1 32
breast carcinoma 59.9 36
endometrial carcinoma 58 22
prostate cancer 53.7 100

Relevant External Links for ESR2

Genetic Association Database (GAD)
ESR2
Human Genome Epidemiology (HuGE) Navigator
ESR2
genes like me logo Genes that share disorders with ESR2: view

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

Publications for ESR2 Gene

  1. Lack of association between estrogen receptor beta dinucleotide repeat polymorphism and autoimmune thyroid diseases in Japanese patients. (PMID: 11180758) Ban Y. … Ban Y. (BMC Med. Genet. 2001) 3 23 48
  2. Association between estrogen receptor-beta gene polymorphisms and ovulatory dysfunctions in patients with menstrual disorders. (PMID: 11231990) Sundarrajan C. … Ng S.C. (J. Clin. Endocrinol. Metab. 2001) 3 23 48
  3. Polymorphisms of the androgen receptor gene and the estrogen receptor beta gene are associated with androgen levels in women. (PMID: 11397855) Westberg L. … Eriksson E. (J. Clin. Endocrinol. Metab. 2001) 3 23 48
  4. Analysis of estrogen receptor (ERalpha and ERbeta) and progesterone receptor (PR) polymorphisms in uterine leiomyomas. (PMID: 12552233) Massart F. … Brandi L. (Med. Sci. Monit. 2003) 3 23 48
  5. Joint effect of estrogen receptor beta sequence variants and endogenous estrogen exposure on breast cancer risk in Chinese women. (PMID: 14633679) Zheng S.L. … Gao Y.T. (Cancer Res. 2003) 3 23 48

Products for ESR2 Gene

  • Addgene plasmids for ESR2

Sources for ESR2 Gene

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