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... See more...

Aliases for ESRRG Gene

Aliases for ESRRG Gene

  • Estrogen Related Receptor Gamma 2 3 5
  • NR3B3 2 3 4
  • Nuclear Receptor Subfamily 3 Group B Member 3 3 4
  • Estrogen Receptor-Related Protein 3 3 4
  • Estrogen-Related Receptor Gamma 3 4
  • ERR Gamma-2 3 4
  • ERR-Gamma 2 3
  • ERR3 3 4
  • ERRg 2 3
  • ERRgamma 3
  • KIAA0832 4
  • ESRRG 5
  • 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 Gluconeogenesis Disorder and Mental Retardation, X-Linked, Syndromic 13. Among its related pathways are Gene Expression and Nuclear Receptor transcription pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II regulatory region sequence-specific DNA binding. An important paralog of this gene is ESRRB.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ESRRG Gene

Genomics for ESRRG Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ESRRG Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J217088 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 600.3 +47.3 47327 4.1 CREB1 POLR2A EZH2 GTF2F1 ATF7 JUND CEBPB SMARCA5 ESRRA CHD1 lnc-GPATCH2-6 ESRRG AB372662-001 USH2A
GH01J216721 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 600 +415.3 415254 4.6 FOXA1 POLR2A CTCF ZBTB17 YY1 SIN3A TRIM28 RFX5 TAF1 TBP lnc-USH2A-3 ESRRG LOC107985596 USH2A
GH01J216805 Promoter/Enhancer 0.8 UCNEbase EPDnew Ensembl 600.1 +332.5 332516 2.5 ESRRG HSALNG0010543 lnc-GPATCH2-5 USH2A
GH01J217137 Promoter 0.4 EPDnew 600.7 0.0 -38 0.1 EZH2 ESRRG LOC107985461 GPATCH2
GH01J217138 Promoter 0.4 Ensembl 600.7 +0.6 554 0.4 EZH2 ESRRG lnc-GPATCH2-6 USH2A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ESRRG on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ESRRG

Top Transcription factor binding sites by QIAGEN in the ESRRG gene promoter:
  • Arnt
  • HFH-1
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • RSRFC4

Genomic Locations for ESRRG Gene

Genomic Locations for ESRRG Gene
chr1:216,503,246-217,137,755
(GRCh38/hg38)
Size:
634,510 bases
Orientation:
Minus strand
chr1:216,676,588-217,311,097
(GRCh37/hg19)
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.
    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};
    Miscellaneous:
    • No physiological activating ligand is known for this orphan receptor, but 4-hydroxytamoxifen and diethylstilbestrol act as inverse agonists and deactivate ESRRG.

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

Antibody Products

  • Boster Bio Antibodies for ESRRG

No data available for DME Specific Peptides for ESRRG Gene

Domains & Families for ESRRG Gene

Gene Families for ESRRG Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Nuclear receptors
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for ESRRG Gene

GenScript: Design optimal peptide antigens:
  • Estrogen-related receptor gamma (B6ZGU5_HUMAN)
  • Bisphenol A receptor ERRgamma2 (C0SQ93_HUMAN)
  • Nuclear receptor subfamily 3 group B member 3 (ERR3_HUMAN)
  • Estrogen-related nuclear receptor gamma variant 1 (F1D8R5_HUMAN)
  • Estrogen-related nuclear receptor gamma variant 2 (F1D8R6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P62508

UniProtKB/Swiss-Prot:

ERR3_HUMAN :
  • Belongs to the nuclear hormone receptor family. NR3 subfamily.
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

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.
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

Phenotypes From GWAS Catalog for ESRRG Gene

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:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor 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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ESRRG

Clone Products

  • Addgene plasmids for ESRRG

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
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 ESRRG gene
Compartment Confidence
nucleus 5
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
plasma membrane 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ESRRG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0042025 host cell nucleus IEA --
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: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 --
GO:0045944 positive regulation of transcription by RNA polymerase II IEA --
genes like me logo Genes that share ontologies with ESRRG: view

Drugs & Compounds for ESRRG Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Diethylstilbestrol Approved, Investigational Pharma Agonist, Antagonist, Target, agonist 7
Estradiol Approved, Investigational, Vet_approved Pharma Sex hormone 1113
cholic acid Approved Pharma Agonist, Full agonist, Target 0
Estradiol acetate Approved, Investigational, Vet_approved Pharma Target, ligand 0
estradiol benzoate Approved, Investigational, Vet_approved Pharma Target, ligand 0

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

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

(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

Drug Products

Transcripts for ESRRG Gene

mRNA/cDNA for ESRRG Gene

20 REFSEQ mRNAs :
38 NCBI additional mRNA sequence :
25 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ESRRG

Clone Products

  • Addgene plasmids for ESRRG

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

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 and MOPED for ESRRG Gene



Protein tissue co-expression partners for ESRRG Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for ESRRG Gene

  • Nervous system(4.6)
  • Muscle(4.6)
  • Kidney(4.6)
  • Eye(4.3)
  • Heart(2.7)
  • Stomach(2.5)
  • Thyroid gland(2.4)
  • Liver(2.4)
genes like me logo Genes that share expression patterns with ESRRG: view

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

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 30 31
  • 99.36 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ESRRG 30 31
  • 95.44 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ESRRG 30 31
  • 95.29 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ESRRG 31
  • 94 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ESRRG 31
  • 94 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Esrrg 30 17 31
  • 92.53 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Esrrg 30
  • 91.8 (n)
Chicken
(Gallus gallus)
Aves ESRRG 30 31
  • 88.05 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ESRRG 31
  • 93 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia esrrg 30
  • 84.9 (n)
Zebrafish
(Danio rerio)
Actinopterygii esrrga 30 31
  • 79.23 (n)
OneToMany
esrrgb 31
  • 68 (a)
OneToMany
Dr.27648 30
Fruit Fly
(Drosophila melanogaster)
Insecta ERR 30 31 32
  • 52.57 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001743 30
  • 52.54 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 44 (a)
OneToMany
Species where no ortholog for ESRRG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ESRRG: view image

Paralogs for ESRRG Gene

Paralogs for ESRRG Gene

(40) SIMAP similar genes for ESRRG Gene using alignment to 6 proteins:

  • ERR3_HUMAN
  • C9J0E3_HUMAN
  • C9J5W9_HUMAN
  • C9JNX5_HUMAN
  • C9JU32_HUMAN
  • K7EM35_HUMAN
genes like me logo Genes that share paralogs with ESRRG: view

Variants for ESRRG Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ESRRG Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
619056 Uncertain Significance: Premature ovarian insufficiency 216,707,373(-) A/AAC FRAMESHIFT_VARIANT,INTRON_VARIANT
720728 Benign: not provided 216,651,070(-) G/A SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
775167 Benign: not provided 216,677,067(-) G/A INTRON_VARIANT
rs1430017283 Uncertain Significance: Premature ovarian insufficiency 216,519,217(-) T/C MISSENSE_VARIANT
rs11572693 - p.Thr50Met

Additional dbSNP identifiers (rs#s) for ESRRG Gene

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)

Additional Variant Information for ESRRG Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ESRRG Gene

MalaCards: The human disease database

(9) MalaCards diseases for ESRRG Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ESRRG in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ESRRG

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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. Association with replication between estrogen-related receptor gamma (ESRRgamma) polymorphisms and bone phenotypes in women of European ancestry. (PMID: 19821770) Elfassihi L … Rousseau F (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2010) 3 23 41
  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 RT (The Journal of biological chemistry 2006) 3 4 23
  3. Identification of PNRC2 and TLE1 as activation function-1 cofactors of the orphan nuclear receptor ERRgamma. (PMID: 14651967) Hentschke M … Borgmeyer U (Biochemical and biophysical research communications 2003) 3 4 23
  4. Structural and functional evidence for ligand-independent transcriptional activation by the estrogen-related receptor 3. (PMID: 11864604) Greschik H … Renaud JP (Molecular cell 2002) 3 4 23
  5. Identification of two hERR2-related novel nuclear receptors utilizing bioinformatics and inverse PCR. (PMID: 10072763) Chen F … Caskey CT (Gene 1999) 2 3 4

Products for ESRRG Gene

  • Addgene plasmids for ESRRG

Sources for ESRRG Gene