RARG (Retinoic Acid Receptor Gamma)
Nuclear receptor involved in development, differentiation, and cancer
Gene Information Card
| Symbol | RARG |
|---|---|
| Full Name | Retinoic Acid Receptor Gamma |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 5916 ncbi.nlm.nih.gov/gene/5916 |
| Ensembl ID | ENSG00000172819 |
| UniProt ID | P13631 |
| OMIM ID | 180190 |
| HGNC ID | 9866 |
| Aliases | RARC, NR1B3, retinoic acid receptor gamma |
Description
The RARG gene encodes retinoic acid receptor gamma, a nuclear receptor that functions as a ligand-dependent transcription factor. It binds retinoic acid and regulates gene expression involved in cell differentiation, proliferation, and embryonic development. RARG is part of the retinoic acid receptor family and forms heterodimers with retinoid X receptors to modulate target gene transcription.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Promyelocytic Leukemia (APL) | RARG rearrangements (e.g., PML-RARG) disrupt retinoic acid signaling, blocking differentiation | PMID: 29276051 |
| Acute Myeloid Leukemia (AML) | RARG mutations and fusions contribute to leukemogenesis via altered transcriptional regulation | COSMIC ID: 1005 |
| Retinoic Acid Resistance | RARG mutations in cancer cells reduce sensitivity to retinoid therapy | ClinVar: RARG-related |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Adipose Tissue | 8.3 | Low |
| Liver | 6.1 | Low |
| Bone Marrow | 4.2 | Low |
| Testis | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HL-60 (leukemia) | 5.0 | Promyelocytic cell line |
| MCF7 (breast cancer) | 3.2 | Epithelial cell line |
| A549 (lung cancer) | 2.1 | Epithelial cell line |
| K562 (leukemia) | 1.5 | Myelogenous leukemia line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg394Trp | Missense | <0.1% | Altered ligand binding and transactivation |
| p.Leu398Pro | Missense | <0.1% | Reduced retinoic acid response |
| PML-RARG fusion | Chromosomal rearrangement | Rare | Oncogenic fusion in APL |
| c.1150C>T | Nonsense | <0.1% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations impair DNA binding or ligand activation, reducing transcriptional activity.
Gain of Function (GOF)
Fusion proteins like PML-RARG can aberrantly activate or repress target genes, promoting leukemogenesis.
Dominant Negative (DN)
Some RARG mutants interfere with wild-type receptor function, blocking normal differentiation signals.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Retinoic acid receptor signaling pathway (Reactome: R-HSA-9006931)
• Nuclear receptor transcription pathway (KEGG: hsa03320)
• Acute myeloid leukemia (KEGG: hsa05221)
Protein Summary
Retinoic acid receptor gamma (RARG) is a 454-amino-acid nuclear receptor with a DNA-binding domain and a ligand-binding domain. It binds all-trans retinoic acid and 9-cis retinoic acid, regulating genes involved in cell growth and differentiation. RARG is critical for skin, bone, and neural development. Aberrant RARG activity, including fusions with PML, is implicated in acute promyelocytic leukemia and other cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RARG Knockout HEK293 Cell Line | EDJ-KQ3001 | Human | 5916 | Details Get a Quote |
| TRARG1 Knockout HEK293 Cell Line | EDJ-KQ15908 | Human | 286753 | Details Get a Quote |
| RARG Knockout A-549 Cell Line | EDJ-KQ24201 | Human | 5916 | Details Get a Quote |
| RARG Knockout HeLa Cell Line | EDJ-KQ24203 | Human | 5916 | Details Get a Quote |
| RARG Knockout HCT 116 Cell Line | EDJ-KQ22831 | Human | 5916 | Details Get a Quote |
| TRARG1 Knockout HeLa Cell Line | EDJ-KQ59564 | Human | 286753 | Details Get a Quote |
| TRARG1 Knockout A-549 Cell Line | EDJ-KQ68030 | Human | 286753 | Details Get a Quote |
| TRARG1 Knockout HCT 116 Cell Line | EDJ-KQ76410 | Human | 286753 | Details Get a Quote |
| RARG Knockout HAP1 Cell Line | EDC08290 | Human | 5916 | Details Get a Quote |
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