RXRG Gene - Retinoid X Receptor Gamma
Nuclear receptor involved in retinoid signaling, metabolism, and cancer
Gene Information Card
| Symbol | RXRG |
|---|---|
| Full Name | retinoid X receptor gamma |
| Gene Type | protein-coding |
| Chromosomal Location | 1q23.3 |
| NCBI Gene ID | 6258 ncbi.nlm.nih.gov/gene/6258 |
| Ensembl ID | ENSG00000143171 |
| UniProt ID | P48443 |
| OMIM ID | 180247 |
| HGNC ID | 10479 |
| Aliases | NR2B3, RXRC |
Description
RXRG (retinoid X receptor gamma) is a nuclear receptor that forms heterodimers with other nuclear receptors, such as retinoic acid receptors (RARs), vitamin D receptor (VDR), and thyroid hormone receptor (TR). It binds to retinoid X response elements (RXREs) and regulates transcription of genes involved in cell differentiation, metabolism, and development. RXRG is highly expressed in skeletal muscle and heart, and its dysregulation is implicated in cancer and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered RXRG expression and mutations may disrupt retinoid signaling, affecting cell proliferation and differentiation. | COSMIC; PMID: 23481259 |
| Metabolic syndrome | RXRG regulates genes involved in lipid and glucose metabolism; variants may influence insulin sensitivity. | OMIM #180247; PMID: 15601839 |
| Retinoid resistance in leukemia | RXRG mutations or reduced expression can impair response to retinoid-based therapies. | ClinVar; PMID: 19029989 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 28.5 | High |
| Heart | 22.1 | High |
| Liver | 6.3 | Medium |
| Kidney | 4.8 | Medium |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.4 | Cervical cancer cell line |
| MCF7 | 8.7 | Breast cancer cell line |
| HepG2 | 6.1 | Hepatocellular carcinoma cell line |
| A549 | 4.3 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Pro34Leu) | Missense | <0.1% | Altered ligand binding; potential loss of function |
| c.457G>A (p.Glu153Lys) | Missense | <0.1% | Reduced heterodimerization; gain of function reported |
| c.784_785insA | Frameshift | <0.1% | Truncated protein; loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt DNA binding domain.
Gain of Function (GOF)
Missense mutations in the ligand-binding domain that enhance constitutive activity.
Dominant Negative (DN)
Mutations that impair heterodimerization and inhibit wild-type RXRG function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Retinoid metabolism and signaling (Reactome: R-HSA-975634)
• Nuclear receptor transcription pathway (KEGG: hsa03320)
• PPAR signaling pathway (KEGG: hsa03320)
Protein Summary
Retinoid X receptor gamma (RXRG) is a 463-amino-acid nuclear receptor with a conserved DNA-binding domain and ligand-binding domain. It functions as a transcription factor by forming heterodimers with RAR, VDR, and other nuclear receptors. RXRG is activated by 9-cis-retinoic acid and regulates genes controlling cell growth, differentiation, and metabolism. Its expression is enriched in muscle and heart, and mutations are linked to cancer and metabolic diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RXRG Knockout HEK293 Cell Line | EDJ-KQ5698 | Human | 6258 | Details Get a Quote |
| RXRG Knockout HeLa Cell Line | EDJ-KQ54373 | Human | 6258 | Details Get a Quote |
| RXRG Knockout A-549 Cell Line | EDJ-KQ62868 | Human | 6258 | Details Get a Quote |
| RXRG Knockout HCT 116 Cell Line | EDJ-KQ71333 | Human | 6258 | Details Get a Quote |
