ESRRG (Estrogen Related Receptor Gamma)
Nuclear receptor involved in metabolism, development, and cancer
Gene Information Card
| Symbol | ESRRG |
|---|---|
| Full Name | Estrogen Related Receptor Gamma |
| Gene Type | protein-coding |
| Chromosomal Location | 1q41 |
| NCBI Gene ID | 2104 ncbi.nlm.nih.gov/gene/2104 |
| Ensembl ID | ENSG00000196482 |
| UniProt ID | P62508 |
| OMIM ID | 602969 |
| HGNC ID | 3474 |
| Aliases | NR3B3, ERR gamma, ERR3, ERRgamma |
Description
ESRRG (Estrogen Related Receptor Gamma) encodes a nuclear receptor that is closely related to the estrogen receptor but does not bind natural estrogens. It functions as a ligand-independent transcription factor, regulating genes involved in energy metabolism, mitochondrial biogenesis, and development. ESRRG is expressed in tissues with high metabolic demand and has been implicated in cancer, metabolic disorders, and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | ESRRG overexpression may promote cell proliferation via transcriptional activation of metabolic genes | PMID: 23434555 |
| Prostate cancer | ESRRG expression is altered and may influence androgen receptor signaling | PMID: 21573173 |
| Metabolic syndrome | ESRRG regulates genes involved in lipid and glucose metabolism | PMID: 19074807 |
| Endometrial cancer | ESRRG expression correlates with tumor grade and prognosis | PMID: 25620005 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Kidney | 8.2 | Medium |
| Liver | 6.1 | Low |
| Brain | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.2 | High expression |
| LNCaP (prostate cancer) | 9.8 | Medium expression |
| HepG2 (liver cancer) | 5.3 | Low expression |
| HEK293 (embryonic kidney) | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | <0.01% | Unknown functional effect |
| c.1246G>A (p.Gly416Ser) | Missense | <0.01% | Unknown functional effect |
| c.1450_1451insA | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1450_1451insA) are predicted to cause premature truncation and loss of DNA-binding or ligand-binding domains.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in ESRRG.
Dominant Negative (DN)
No dominant-negative mutations have been described for ESRRG.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Nuclear receptors meta-pathway
• PPAR signaling pathway
• Metabolic pathways
• Estrogen signaling pathway
Protein Summary
ESRRG (Estrogen Related Receptor Gamma) is a 458-amino-acid nuclear receptor that functions as a ligand-independent transcription factor. It contains a conserved N-terminal DNA-binding domain and a C-terminal ligand-binding domain. ESRRG regulates target genes involved in energy metabolism, mitochondrial function, and cell proliferation. It is widely expressed in metabolically active tissues and has been implicated in cancer progression and metabolic diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ESRRG Knockout HEK293 Cell Line | EDJ-KQ4557 | Human | 2104 | Details Get a Quote |
| ESRRG Knockout HeLa Cell Line | EDJ-KQ53177 | Human | 2104 | Details Get a Quote |
| ESRRG Knockout A-549 Cell Line | EDJ-KQ61657 | Human | 2104 | Details Get a Quote |
| ESRRG Knockout HCT 116 Cell Line | EDJ-KQ70138 | Human | 2104 | Details Get a Quote |
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