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Aliases for ESRRG Gene

Aliases for ESRRG Gene

  • Estrogen Related Receptor Gamma 2 3 5
  • Nuclear Receptor Subfamily 3 Group B Member 3 3 4
  • Estrogen Receptor-Related Protein 3 3 4
  • ERR Gamma-2 3 4
  • NR3B3 3 4
  • ERR3 3 4
  • Estrogen-Related Receptor Gamma 3
  • ERRgamma 3
  • KIAA0832 4
  • ERRG2 4

External Ids for ESRRG Gene

Previous GeneCards Identifiers for ESRRG Gene

  • GC01M215342
  • GC01M212521
  • GC01M213280
  • GC01M213733
  • GC01M213064
  • GC01M214743
  • GC01M216676
  • GC01M187351

Summaries for ESRRG Gene

Entrez Gene Summary for ESRRG Gene

  • This gene encodes a member of the estrogen receptor-related receptor (ESRR) family, which belongs to the nuclear hormone receptor superfamily. All members of the ESRR family share an almost identical DNA binding domain, which is composed of two C4-type zinc finger motifs. The ESRR members are orphan nuclear receptors; they bind to the estrogen response element and steroidogenic factor 1 response element, and activate genes controlled by both response elements in the absence of any ligands. The ESRR family is closely related to the estrogen receptor (ER) family. They share target genes, co-regulators and promoters, and by targeting the same set of genes, the ESRRs seem to interfere with the ER-mediated estrogen response in various ways. It has been reported that the family member encoded by this gene functions as a transcriptional activator of DNA cytosine-5-methyltransferases 1 (Dnmt1) expression by direct binding to its response elements in the DNMT1 promoters, modulates cell proliferation and estrogen signaling in breast cancer, and negatively regulates bone morphogenetic protein 2-induced osteoblast differentiation and bone formation. Multiple alternatively spliced transcript variants have been identified, which mainly differ at the 5' end and some of which encode protein isoforms differing in the N-terminal region. [provided by RefSeq, Aug 2011]

GeneCards Summary for ESRRG Gene

ESRRG (Estrogen Related Receptor Gamma) is a Protein Coding gene. Among its related pathways are Gene Expression and Nuclear Receptor transcription pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II regulatory region sequence-specific DNA binding. An important paralog of this gene is ESRRB.

UniProtKB/Swiss-Prot for ESRRG Gene

  • Orphan receptor that acts as transcription activator in the absence of bound ligand. Binds specifically to an estrogen response element and activates reporter genes controlled by estrogen response elements (By similarity). Induces the expression of PERM1 in the skeletal muscle.

Gene Wiki entry for ESRRG Gene

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

Genomics for ESRRG Gene

Regulatory Elements for ESRRG Gene

Enhancers for ESRRG 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
GH01F217135 0.8 FANTOM5 ENCODE 10.5 +2.4 2436 0.4 E2F1 ZFHX2 CBX2 REST EGR2 EZH2 ESRRG GC01P217054
GH01F216599 2.6 VISTA FANTOM5 Ensembl ENCODE 5.2 +537.2 537219 2.9 SIN3A ZNF48 RAD21 ZBTB40 ETS1 YY1 GLIS2 NFYC ELF1 SMARCA4 ESRRG GC01P216682 USH2A
GH01F216739 1.2 ENCODE 5 +397.9 397855 1.0 POU5F1 ESRRG GC01P216722 GC01P216840
GH01F216665 0.5 ENCODE 5 +471.6 471555 2.0 GATA3 STAT1 CEBPA BHLHE40 CEBPB CEBPG ESRRG GC01P216682 USH2A
GH01F216650 0.4 FANTOM5 3.6 +487.3 487266 0.2 ESRRG GC01P216682 USH2A
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ESRRG on UCSC Golden Path with GeneCards custom track

Genomic Location for ESRRG Gene

Chromosome:
1
Start:
216,503,246 bp from pter
End:
217,137,755 bp from pter
Size:
634,510 bases
Orientation:
Minus strand

Genomic View for ESRRG Gene

Genes around ESRRG on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ESRRG Gene

Proteins for ESRRG Gene

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

    Protein Symbol:
    P62508-ERR3_HUMAN
    Recommended name:
    Estrogen-related receptor gamma
    Protein Accession:
    P62508
    Secondary Accessions:
    • A8K4I0
    • A8K6I2
    • B3KY84
    • E9PGB7
    • F8W8J3
    • O75454
    • O96021
    • Q68DA0
    • Q6P274
    • Q6PK28
    • Q6TS38
    • Q9R1F3
    • Q9UNJ4

    Protein attributes for ESRRG Gene

    Size:
    458 amino acids
    Molecular mass:
    51306 Da
    Quaternary structure:
    • Homodimer. Binds TLE1, PNRC1 and PNRC2. Binds GRIP1 (By similarity). Interacts with NRIP1, NCOA1 and NCOR2.
    Miscellaneous:
    • No physiological activating ligand is known for this orphan receptor, but 4-hydroxytamoxifen and diethylstilbestrol act as inverse agonists and deactivate ESRRG.
    SequenceCaution:
    • Sequence=AAH08218.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA74855.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ESRRG Gene

    Alternative splice isoforms for ESRRG Gene

neXtProt entry for ESRRG Gene

Post-translational modifications for ESRRG Gene

  • Acetylated by PCAF/KAT2 (in vitro).
  • Phosphorylation on Ser-45 enhances sumoylation on Lys-40 thus repressing transcriptional activity.
  • Sumoylation on Lys-40 is enhanced by phosphorylation at Ser-45 and represses transcriptional activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ESRRG Gene

Domains & Families for ESRRG Gene

Gene Families for ESRRG Gene

Graphical View of Domain Structure for InterPro Entry

P62508

UniProtKB/Swiss-Prot:

ERR3_HUMAN :
  • Contains 1 nuclear receptor DNA-binding domain.
  • Belongs to the nuclear hormone receptor family. NR3 subfamily.
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 ESRRG: view

Function for ESRRG Gene

Molecular function for ESRRG Gene

GENATLAS Biochemistry:
estrogen-related receptor G,orphan receptor family,steroid/thyroid hormone receptor superfamily,expressed in brain,lung,bone marrow,adrenal gland,trachea,spinal cord,thyroid
UniProtKB/Swiss-Prot Function:
Orphan receptor that acts as transcription activator in the absence of bound ligand. Binds specifically to an estrogen response element and activates reporter genes controlled by estrogen response elements (By similarity). Induces the expression of PERM1 in the skeletal muscle.

Gene Ontology (GO) - Molecular Function for ESRRG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0003707 steroid hormone receptor activity IEA --
genes like me logo Genes that share ontologies with ESRRG: view
genes like me logo Genes that share phenotypes with ESRRG: view

Animal Models for ESRRG Gene

MGI Knock Outs for ESRRG:

Animal Model Products

  • Taconic Biosciences Mouse Models for ESRRG

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Localization for ESRRG Gene

Subcellular locations from UniProtKB/Swiss-Prot for ESRRG Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ESRRG Gene COMPARTMENTS Subcellular localization image for ESRRG gene
Compartment Confidence
nucleus 5
mitochondrion 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for ESRRG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with ESRRG: view

Pathways & Interactions for ESRRG Gene

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

Pathways by source for ESRRG Gene

SIGNOR curated interactions for ESRRG Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for ESRRG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IDA 23836911
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0043401 steroid hormone mediated signaling pathway IEA --
GO:0045893 positive regulation of transcription, DNA-templated ISS --
genes like me logo Genes that share ontologies with ESRRG: view

Drugs & Compounds for ESRRG Gene

(18) Drugs for ESRRG Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Diethylstilbestrol Approved Pharma Agonist, agonist, Target 5
Estradiol Approved, Investigational, Vet_approved Pharma Sex hormone 1283
cholic acid Approved Pharma Full agonist, Agonist, Target 0
Fulvestrant Approved, Investigational Pharma Antagonist Estrogen receptor antagonist,high affinity, Hormone therapy 194
4-(1-methyl-1-phenylethyl)phenol Experimental Pharma Target 0

(6) Additional Compounds for ESRRG Gene - From: Novoseek and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4-hydroxy?aetamoxifen
Antagonist
5,7-dihydroxy-4-methoxyisoflavone
Agonist
7,4-dihydroxyisoflavone
Agonist

(3) ApexBio Compounds for ESRRG Gene

Compound Action Cas Number
DY131 ERRγ agonist 95167-41-2
Estradiol Sex hormone 50-28-2
Fulvestrant Estrogen receptor antagonist,high affinity 129453-61-8
genes like me logo Genes that share compounds with ESRRG: view

Transcripts for ESRRG Gene

Unigene Clusters for ESRRG Gene

Estrogen-related receptor gamma:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b · 12c · 12d · 12e ^ 13 ^ 14 ^ 15a · 15b ^
SP1: - - - - - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - - - - - - -
SP4: - - - - - - - - - - - - - - - -
SP5: - - - - - - - - - - - - - - - - - - -
SP6: - -
SP7: - -
SP8: - - - - - - - - - - - - - - - - -
SP9: - - - - - -
SP10: - - - - - - - - - - - - - - - - - - - - - -
SP11: - - - - - - - - - - - - - - - - - -
SP12: - - - - - - - - - - - - - - - - - -
SP13: - -
SP14:
SP15: - - - -
SP16: - - - - - - - - - - - - - - - - -
SP17: - - -
SP18: - - -
SP19: - - - - - - -

ExUns: 16 ^ 17 ^ 18a · 18b · 18c · 18d · 18e · 18f · 18g · 18h · 18i · 18j ^ 19 ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23a · 23b
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4: - - - - -
SP5: - - -
SP6: - - -
SP7: - - - -
SP8: - -
SP9:
SP10: - -
SP11: - -
SP12: - -
SP13: - -
SP14:
SP15:
SP16: - -
SP17: - -
SP18: - -
SP19:

Relevant External Links for ESRRG Gene

GeneLoc Exon Structure for
ESRRG
ECgene alternative splicing isoforms for
ESRRG

Expression for ESRRG Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ESRRG Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Stomach (x8.3) and Heart - Left Ventricle (x5.4).

Protein differential expression in normal tissues from HIPED for ESRRG Gene

This gene is overexpressed in Retina (65.7).

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



Protein tissue co-expression partners for ESRRG Gene

NURSA nuclear receptor signaling pathways regulating expression of ESRRG Gene:

ESRRG

SOURCE GeneReport for Unigene cluster for ESRRG Gene:

Hs.444225

mRNA Expression by UniProt/SwissProt for ESRRG Gene:

P62508-ERR3_HUMAN
Tissue specificity: Expressed in the heart, kidney, brain, lung, bone marrow, adrenal gland, trachea, spinal cord and thyroid gland.
genes like me logo Genes that share expression patterns with ESRRG: view

Primer Products

Orthologs for ESRRG Gene

This gene was present in the common ancestor of animals.

Orthologs for ESRRG Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ESRRG 34 35
  • 99.36 (n)
dog
(Canis familiaris)
Mammalia ESRRG 34 35
  • 95.44 (n)
cow
(Bos Taurus)
Mammalia ESRRG 34 35
  • 95.29 (n)
oppossum
(Monodelphis domestica)
Mammalia ESRRG 35
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ESRRG 35
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Esrrg 34 16 35
  • 92.53 (n)
rat
(Rattus norvegicus)
Mammalia Esrrg 34
  • 91.8 (n)
chicken
(Gallus gallus)
Aves ESRRG 34 35
  • 88.05 (n)
lizard
(Anolis carolinensis)
Reptilia ESRRG 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia esrrg 34
  • 84.9 (n)
zebrafish
(Danio rerio)
Actinopterygii esrrga 34 35
  • 79.23 (n)
esrrgb 35
  • 68 (a)
OneToMany
Dr.27648 34
fruit fly
(Drosophila melanogaster)
Insecta ERR 36 34 35
  • 52.57 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001743 34
  • 52.54 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
OneToMany
Species where no ortholog for ESRRG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 ESRRG Gene

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

Paralogs for ESRRG Gene

Variants for ESRRG Gene

Sequence variations from dbSNP and Humsavar for ESRRG Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1004626 -- 217,028,062(-) AGGCC(A/G)AATCT intron-variant
rs10127480 -- 216,671,081(+) CAGAG(C/T)GGACT intron-variant
rs1014524 -- 216,943,625(+) CTACA(C/T)ACACA intron-variant
rs10157018 -- 216,605,201(+) GAAAA(C/T)AGTAC intron-variant
rs10157225 -- 216,791,059(+) ATTAA(A/G)AAGTG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv46e201 CNV deletion 23290073
dgv577n100 CNV gain 25217958
esv1607878 CNV insertion 17803354
esv2664498 CNV deletion 23128226
esv2722851 CNV deletion 23290073
esv2722862 CNV deletion 23290073
esv2762162 CNV loss 21179565
esv2762163 CNV loss 21179565
esv3364640 CNV insertion 20981092
esv3378536 CNV insertion 20981092
esv3578431 CNV loss 25503493
esv3578432 CNV loss 25503493
esv3578433 CNV loss 25503493
esv3588829 CNV loss 21293372
esv3588832 CNV loss 21293372
esv3588836 CNV loss 21293372
esv3588837 CNV loss 21293372
nsv1008939 CNV gain 25217958
nsv1011849 CNV gain 25217958
nsv1133936 CNV deletion 24896259
nsv1137847 CNV deletion 24896259
nsv1160079 CNV deletion 26073780
nsv160531 CNV deletion 16902084
nsv441737 CNV loss 18776908
nsv4565 CNV deletion 18451855
nsv468138 CNV loss 19166990
nsv471899 CNV novel sequence insertion 20440878
nsv472202 CNV novel sequence insertion 20440878
nsv474225 CNV novel sequence insertion 20440878
nsv508694 CNV deletion 20534489
nsv512757 CNV insertion 21212237
nsv514044 CNV loss 21397061
nsv519715 CNV loss 19592680
nsv520098 CNV loss 19592680
nsv520457 CNV loss 19592680
nsv521019 CNV loss 19592680
nsv525040 CNV loss 19592680
nsv549199 CNV gain 21841781
nsv549203 CNV loss 21841781
nsv549204 CNV gain 21841781
nsv549205 CNV loss 21841781
nsv952121 CNV deletion 24416366

Variation tolerance for ESRRG Gene

Residual Variation Intolerance Score: 9.68% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.57; 12.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ESRRG Gene

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

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

Disorders for ESRRG Gene

Relevant External Links for ESRRG

Genetic Association Database (GAD)
ESRRG
Human Genome Epidemiology (HuGE) Navigator
ESRRG
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ESRRG

No disorders were found for ESRRG Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ESRRG Gene

Publications for ESRRG Gene

  1. Association with replication between estrogen-related receptor gamma (ESRRgamma) polymorphisms and bone phenotypes in women of European ancestry. (PMID: 19821770) Elfassihi L. … Rousseau F. (J. Bone Miner. Res. 2010) 3 22 46 64
  2. X-ray crystal structures of the estrogen-related receptor-gamma ligand binding domain in three functional states reveal the molecular basis of small molecule regulation. (PMID: 16990259) Wang L. … Nolte R.T. (J. Biol. Chem. 2006) 3 4 22 64
  3. Identification of PNRC2 and TLE1 as activation function-1 cofactors of the orphan nuclear receptor ERRgamma. (PMID: 14651967) Hentschke M. … Borgmeyer U. (Biochem. Biophys. Res. Commun. 2003) 3 4 22 64
  4. Structural and functional evidence for ligand-independent transcriptional activation by the estrogen-related receptor 3. (PMID: 11864604) Greschik H. … Renaud J.-P. (Mol. Cell 2002) 3 4 22 64
  5. Identification of two hERR2-related novel nuclear receptors utilizing bioinformatics and inverse PCR. (PMID: 10072763) Chen F. … Caskey C.T. (Gene 1999) 2 3 4 64

Products for ESRRG Gene

Sources for ESRRG Gene

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