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Aliases for ESRRG Gene

Aliases for ESRRG Gene

  • Estrogen Related Receptor Gamma 2 3
  • 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 5
  • 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. Diseases associated with ESRRG include vulva squamous cell carcinoma. 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 AR.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

Proteomics data for ESRRG Gene at MOPED

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:0003707 steroid hormone receptor activity IEA --
GO:0003708 retinoic acid receptor activity IEA --
GO:0005515 protein binding IPI 10428842
GO:0050682 AF-2 domain binding ISS --
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

In Situ Assay 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

No data available for Gene Ontology (GO) - Cellular Components for ESRRG Gene

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:0006366 transcription from RNA polymerase II promoter IEA --
GO:0010467 gene expression TAS --
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

(17) 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 Pharma Sex hormone 1235
cholic acid Approved Pharma Full agonist, Agonist, Target 0
Fulvestrant Approved, Investigational Pharma Antagonist Estrogen receptor antagonist,high affinity, Hormone therapy 177
Bisphenol A Experimental Pharma Target 12

(5) 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

(2) ApexBio Compounds for ESRRG Gene

Compound Action Cas Number
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

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 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



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

Protein tissue co-expression partners for ESRRG Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia ESRRG 35
  • 95.29 (n)
  • 98.65 (a)
ESRRG 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ESRRG 35
  • 95.44 (n)
  • 98.65 (a)
ESRRG 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Esrrg 35
  • 92.53 (n)
  • 98.65 (a)
Esrrg 16
Esrrg 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ESRRG 35
  • 99.36 (n)
  • 100 (a)
ESRRG 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Esrrg 35
  • 91.8 (n)
  • 99.77 (a)
oppossum
(Monodelphis domestica)
Mammalia ESRRG 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ESRRG 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves ESRRG 35
  • 88.05 (n)
  • 97.47 (a)
ESRRG 36
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ESRRG 36
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia esrrg 35
  • 84.9 (n)
  • 95.4 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.27648 35
esrrga 35
  • 79.23 (n)
  • 91.95 (a)
esrrga 36
  • 81 (a)
OneToMany
esrrgb 36
  • 68 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta ERR 37
  • 42 (a)
ERR 35
  • 52.57 (n)
  • 49.24 (a)
ERR 36
  • 34 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001743 35
  • 52.54 (n)
  • 49.44 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
OneToMany
Species with no ortholog for ESRRG:
  • 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

Paralogs for ESRRG Gene

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

Variants for ESRRG Gene

Sequence variations from dbSNP and Humsavar for ESRRG Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs11572693 - 216,677,399(+) CCTGA(A/C/G/T)GGACA intron-variant, reference, missense
rs700041 -- 217,080,219(+) TATAT(C/G)TTAAA intron-variant, upstream-variant-2KB
rs700042 -- 217,069,458(-) ATAGG(A/T)GCTAT intron-variant
rs730968 -- 216,655,482(-) CCCCA(A/G)TGTAG intron-variant
rs884118 -- 216,537,630(+) GTGAG(A/T)TGGGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv873178 CNV Loss 21882294
nsv4565 CNV Loss 18451855
nsv520098 CNV Loss 19592680
nsv468138 CNV Loss 19166990
nsv508694 CNV Loss 20534489
nsv512757 CNV Insertion 21212237
esv1607878 CNV Insertion 17803354
nsv519715 CNV Loss 19592680
esv269200 CNV Insertion 20981092
dgv529n71 CNV Loss 21882294
dgv58e201 CNV Deletion 23290073
nsv520457 CNV Loss 19592680
nsv521019 CNV Loss 19592680
esv2722851 CNV Deletion 23290073
nsv160531 CNV Loss 16902084
esv2722862 CNV Deletion 23290073
nsv525040 CNV Loss 19592680
esv2664498 CNV Deletion 23128226
nsv441737 CNV CNV 18776908
nsv514044 CNV Loss 21397061

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

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

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

Disorders for ESRRG Gene

MalaCards: The human disease database

(1) MalaCards diseases for ESRRG Gene - From: DISEASES

Disorder Aliases PubMed IDs
vulva squamous cell carcinoma
  • squamous cell carcinoma of vulva
- elite association - COSMIC cancer census association via MalaCards
Search ESRRG in MalaCards View complete list of genes associated with diseases

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

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

Publications for ESRRG Gene

  1. 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 67
  2. 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 23
  3. Structural activity relationship of flavonoids with estrogen-related receptor gamma. (PMID: 19914244) Huang Z. … Wong C.W. (FEBS Lett. 2010) 3 23
  4. Placenta expressing the greatest quantity of bisphenol A receptor ERR{gamma} among the human reproductive tissues: Predominant expression of type-1 ERRgamma isoform. (PMID: 19304792) Takeda Y. … Shimohigashi Y. (J. Biochem. 2009) 3 23
  5. Transcriptional corepressor SMILE recruits SIRT1 to inhibit nuclear receptor estrogen receptor-related receptor gamma transactivation. (PMID: 19690166) Xie Y.B. … Choi H.S. (J. Biol. Chem. 2009) 3 23

Products for ESRRG Gene

Sources for ESRRG Gene

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