ESRRG Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | ESRRG |
| Official Name | estrogen related receptor gamma [Source:HGNC Symbol;Acc:HGNC:3474] |
| Ensembl ID | ENSG00000196482 |
| Bio databases IDs | |
| Aliases | estrogen related receptor gamma |
| Synonyms | ERR3, ERRg, ERRG2, ERR-gamma, ERR-γ, estrogen-related receptor gamma, estrogen-related receptor-γ, KIAA0832, LOC100504550, mKIAA0832, NR3B3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ESRRG often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- AF-2 domain binding
- DNA binding domain
- DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
- nucleic acid binding
- AF-2 transcription activation domain
- protein binding
- sequence-specific DNA binding
- identical protein binding
- hormone binding domain
- nuclear receptor ligand binding domain
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- AF-1 domain
- ligand-binding domain
- double-stranded DNA binding
- ligand-dependent nuclear receptor
- Ligand-binding domain of nuclear hormone receptor
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- alcoholism
- major depression
- autism
- idiopathic scoliosis
- Duchenne muscular dystrophy
- chronic kidney disease
- Huntington disease
- prostate cancer
- uterine leiomyoma
role in cell
- expression in
- phosphorylation in
- activation in
- growth
- G1/S phase transition
- differentiation
- production in
- formation
- maturation
- quantity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ESRRG gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- retinoic acid receptor signaling pathway
- intracellular steroid hormone receptor signaling pathway
- regulation of transcription, DNA-dependent
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- protein binding
- AF-2 domain binding
- estrogen response element binding
- ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity
- steroid hormone receptor activity
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- steroid binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity