Gene: ESRRG

Alternate names for this Gene: ERR-gamma|ERR3|ERRg|ERRgamma|NR3B3

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q41

Description of this Gene: estrogen related receptor gamma

Type of Gene: protein-coding

rs11117615 in ESRRG gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs150859230 in ESRRG gene and Adverse effects, not elsewhere classified PMID 30420678 2019 Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records.

rs17669622 in ESRRG gene and Alcohol consumption PMID 24376456 2013 Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.

rs72737330 in ESRRG gene and Alcohol-Induced Disorders PMID 29071344 2017 Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression.

rs72737330 in ESRRG gene and Alcohol-Related Disorders PMID 29071344 2017 Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression.

rs72737330 in ESRRG gene and Alcoholic Intoxication, Chronic PMID 29071344 2017 Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression.

rs12755398 in ESRRG gene and Autosomal dominant compelling helio ophthalmic outburst syndrome PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs11117758 in ESRRG gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs12757165 in ESRRG gene and Cardiac Hypertrophy PMID 21348951 2011 Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.

rs12757165 in ESRRG gene and Cardiomegaly PMID 21348951 2011 Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.

rs1339221 in ESRRG gene and Cleft upper lip PMID 29535761 2018 A Genome-Wide Search for Gene-Environment Effects in Isolated Cleft Lip with or without Cleft Palate Triads Points to an Interaction between Maternal Periconceptional Vitamin Use and Variants in ESRRG.

rs79131758 in ESRRG gene and Forced expiratory volume function PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

rs10779271 in ESRRG gene and Intelligence PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs72737330 in ESRRG gene and Major Depressive Disorder PMID 29071344 2017 Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression.

rs17669622 in ESRRG gene and Mean blood pressure PMID 24376456 2013 Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.

rs11117615 in ESRRG gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs73089908 in ESRRG gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs12757183 in ESRRG gene and Smoking PMID 30643258 2019 Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.

rs10863246 in ESRRG gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

rs79131758 in ESRRG gene and response to bronchodilator PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.