LongevityMap Gene

Gene details

HGNC symbol
ESRRG 
Aliases
ERR3; NR3B3; ERRgamma 
Common name
estrogen related receptor gamma 
Description
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]
Cytogenetic Location
1q41
UCSC Genome Browser
View 1q41 on the UCSC genome browser
OMIM
602969
Ensembl
ENSG00000196482
UniProt/Swiss-Prot
B7Z5E9_HUMAN
Entrez Gene
2104
UniGene
444225
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
esrrga
Mus musculus
Esrrg
Rattus norvegicus
Esrrg

Studies (1)

Significant/Non-significant: 1/0

Longevity Association
Significant
Population
American (Caucasian)
Study Design
Genome-wide association study in 801 centenarians and 914 healthy controls
Conclusions
281 SNPs were found to discriminate between cases and controls
Indentifier
rs17044026
Reference