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Aliases for ESR2 Gene

Aliases for ESR2 Gene

  • Estrogen Receptor 2 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 2 (ER Beta) 2
  • 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) is a Protein Coding gene. Diseases associated with ESR2 include Medullary Thyroid Carcinoma, Familial and De Quervain Disease. Among its related pathways are Plasma membrane estrogen receptor signaling and Apoptosis and survival_Anti-apoptotic action of nuclear ESR1 and ESR2. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and enzyme binding. An important paralog of this gene is ESR1.

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 CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ESR2 Gene

Genomics for ESR2 Gene

Regulatory Elements for ESR2 Gene

Enhancers for ESR2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G064231 1.4 Ensembl ENCODE dbSUPER 29.5 +105.6 105607 2.0 HDGF TBP PKNOX1 TBL1XR1 WRNIP1 ZFP64 BMI1 GATA2 SCRT2 FOS ESR2 MTHFD1 PIR41332 GC14M064323
GH14G064219 1 ENCODE dbSUPER 30.1 +117.9 117915 2.6 SRF CTCF PKNOX1 USF1 L3MBTL2 MAFG MNT ZNF316 ZFHX2 POLR2A ESR2 MTHFD1 PIR41332 GC14M064162
GH14G064212 1 ENCODE dbSUPER 26.3 +123.8 123824 4.0 SIX4 SOX13 CTCF PKNOX1 JUN ZNF335 ZNF121 CTBP1 POLR2A FOSL2 ESR2 MTHFD1 PIR41332 GC14M064162
GH14G064234 1.2 ENCODE dbSUPER 21.2 +103.0 103020 2.9 HDGF TBP PKNOX1 TBL1XR1 NFIB SIN3A ZBTB40 ELK1 SCRT2 RCOR1 ESR2 MTHFD1 LOC102723809 PIR41332 GC14M064323
GH14G064217 0.9 ENCODE dbSUPER 23.4 +120.4 120370 2.3 PKNOX1 MTA2 NFIA NFIB NR2F1 EP300 NFIC ARID3A ZFHX2 IKZF1 ESR2 ZBTB25 PIR41332 GC14M064162
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ESR2 on UCSC Golden Path with GeneCards custom track

Promoters for ESR2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000069607 50 1801 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF143 FOS

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

Post-translational modifications for ESR2 Gene

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.
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:0003677 DNA binding TAS 9636657
GO:0003700 transcription factor activity, sequence-specific DNA binding 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

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ESR2 gene
Compartment Confidence
mitochondrion 5
nucleus 5
extracellular 3
plasma membrane 2
cytoskeleton 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for ESR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005634 nucleus TAS 11181953
GO:0005654 nucleoplasm TAS --
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:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 15345745
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated TAS 11181953
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0007165 signal transduction TAS 8769313
genes like me logo Genes that share ontologies with ESR2: view

Drugs & Compounds for ESR2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tamoxifen Approved Pharma Antagonist, antagonist, Biomarker, Target, agonist TGF-β modulatory and PKC inhibitory effects, ER antagonist, Anti-Estrogens 390
Diethylstilbestrol Approved Pharma Agonist, agonist, Target 5
Estriol Approved, Vet_approved Pharma Agonist, agonist, Target 0
Estradiol Approved, Investigational, Vet_approved Pharma agonist, Target Sex hormone 1318
Fulvestrant Approved, Investigational Pharma Antagonist, inhibitor, antagonist Estrogen receptor antagonist,high affinity, Hormone therapy 202

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
17beta-estradiol
Agonist
4-hydroxy?aetamoxifen
Antagonist
N-Desmethyltamoxifen
31750-48-8
ICI 182,780
129453-61-8

(5) Tocris Compounds for ESR2 Gene

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

(52) ApexBio Compounds for ESR2 Gene

Compound Action Cas Number
(E)-2-Decenoic acid Fatty acid identified in royal jelly 334-49-6
(R)-DPN 524047-78-7
(R,R)-THC 138090-06-9
(Z)-2-decenoic acid Unsaturated short chain fatty acid for biofilm dispersion 15790-91-7
(Z)-4-Hydroxytamoxifen ER modulator, potent and selective 68047-06-3
Altrenogest 850-52-2
Bazedoxifene Estrogen receptor modulator 198481-32-2
Bazedoxifene acetate Estrogen receptor modulator 198481-33-3
Bazedoxifene HCl 198480-56-7
Chlorotrianisene Estrogen agonist 569-57-3
Clomiphene citrate 50-41-9
Cyclofenil 2624-43-3
Diethylstilbestrol 56-53-1
DPN 1428-67-7
Endoxifen 112093-28-4
Equol 531-95-3
ERB 041 524684-52-4
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
Estropipate 7280-37-7
Ethinyl Estradiol Oral contraceptive 57-63-6
Ethisterone Progestogen hormone 434-03-7
Ethynodiol diacetate 297-76-7
Etonogestrel 54048-10-1
FERb 033 1111084-78-6
Fulvestrant Estrogen receptor antagonist,high affinity 129453-61-8
G-36 1392487-51-2
Gestodene 60282-87-3
GSK 4716 101574-65-6
Hexestrol 84-16-2
Medroxyprogesterone acetate Steroidal progestin 71-58-9
Megestrol Acetate Anti-estrogen agent 595-33-5
Mestranol Estrogen used in contraceptives 72-33-3
MPP dihydrochloride 911295-24-4
Ospemifene 128607-22-7
PHTPP 805239-56-9
PPT 263717-53-9
Raloxifene HCl Estrogen receptor (ER) 82640-04-8
RU 58668 151555-47-4
Tamoxifen TGF-β modulatory and PKC inhibitory effects 10540-29-1
Tamoxifen Citrate Antiestrogen drug 54965-24-1
Toremifene Estrogen-receptor modulator 89778-26-7
Toremifene Citrate 89778-27-8
Ulipristal 159811-51-5
WAY 200070 440122-66-7
Y 134 849662-80-2
Zearalenone 17924-92-4
ZK 164015 177583-70-9
α-Estradiol 57-91-0
genes like me logo Genes that share compounds with ESR2: view

Drug Products

Transcripts for ESR2 Gene

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for ESR2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ESR2 Gene:

ESR2

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.

Evidence on tissue expression from TISSUES for ESR2 Gene

  • Nervous system(3.2)
  • Blood(2.7)
  • Muscle(2.7)
  • Heart(2.6)
  • Intestine(2.5)
  • Kidney(2.4)
  • Lung(2.4)
  • Adrenal gland(2.3)
  • Thyroid gland(2.3)
  • Liver(2.2)
  • Bone(2.1)
genes like me logo Genes that share expression patterns with ESR2: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ESR2 Gene

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 34
  • 99.62 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ESR2 35 34
  • 87.86 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ESR2 35 34
  • 87.29 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Esr2 34
  • 85.36 (n)
mouse
(Mus musculus)
Mammalia Esr2 16 35 34
  • 84.65 (n)
oppossum
(Monodelphis domestica)
Mammalia ESR2 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ESR2 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves ESR2 35 34
  • 74.78 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ESR2 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia esr2 34
  • 68.58 (n)
LOC394460 34
zebrafish
(Danio rerio)
Actinopterygii esr2b 35 34
  • 61.61 (n)
OneToMany
esr2a 35 34
  • 52 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11634 34
fruit fly
(Drosophila melanogaster)
Insecta ERR 35
  • 26 (a)
OneToMany
Species where no ortholog for ESR2 was found in the sources mined by GeneCards:
  • 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
rs184175256 Likely benign 64,226,222(+) TGACT(A/G)ATGTA downstream-variant-500B, utr-variant-3-prime
rs539694463 Likely benign 64,226,246(+) ACTAC(C/T)GACTT downstream-variant-500B, utr-variant-3-prime
rs886050608 Uncertain significance 64,226,221(+) TTGAC(G/T)AATGT downstream-variant-500B, utr-variant-3-prime
rs886050609 Uncertain significance 64,226,258(+) ATAGG(A/G)ATGTT downstream-variant-500B, utr-variant-3-prime
rs886050610 Uncertain significance 64,226,260(+) AGGGA(A/T)GTTTT downstream-variant-500B, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv2351050 CNV deletion 18987734
esv2748779 CNV deletion 23290073
esv2748782 CNV deletion 23290073
esv3353486 CNV insertion 20981092
esv3567943 CNV gain 25503493
esv3634746 CNV loss 21293372
esv3634750 CNV loss 21293372
nsv1050378 CNV gain 25217958
nsv1069803 CNV deletion 25765185
nsv1307 CNV deletion 18451855
nsv456326 CNV gain 19166990
nsv524908 CNV gain 19592680
nsv564905 CNV gain 21841781

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

Human Gene Mutation Database (HGMD)
ESR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ESR2

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

Disorders for ESR2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
medullary thyroid carcinoma, familial
  • medullary thyroid carcinoma
de quervain disease
  • radial styloid tenosynovitis
gender identity disorder
  • psychosexual identity disorder
transsexualism
progesterone resistance
- 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. Association between ESR1 and ESR2 gene polymorphisms and hyperlipidemia in Chinese Han postmenopausal women. (PMID: 19927160) Zhao T. … Xu H. (J. Hum. Genet. 2010) 3 22 46 64
  2. Genetic variation in sex-steroid receptors and synthesizing enzymes and colorectal cancer risk in women. (PMID: 20148360) Lin J. … Cook N.R. (Cancer Causes Control 2010) 3 22 46 64
  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 46 64
  4. Androgen receptor repeat length polymorphism associated with male-to-female transsexualism. (PMID: 18962445) Hare L. … Harley V.R. (Biol. Psychiatry 2009) 3 22 46 64
  5. Estrogen receptor genotype is associated with risk of venous thromboembolism during tamoxifen therapy. (PMID: 19082882) Onitilo A.A. … Jin Y. (Breast Cancer Res. Treat. 2009) 3 22 46 64

Products for ESR2 Gene

  • Addgene plasmids for ESR2

Sources for ESR2 Gene

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