RARB (Retinoic Acid Receptor Beta)
Nuclear receptor involved in retinoic acid signaling, development, and cancer suppression
Gene Information Card
| Symbol | RARB |
|---|---|
| Full Name | Retinoic Acid Receptor Beta |
| Gene Type | protein-coding |
| Chromosomal Location | 3p24.2 |
| NCBI Gene ID | 5915 ncbi.nlm.nih.gov/gene/5915 |
| Ensembl ID | ENSG00000177098 |
| UniProt ID | P10826 |
| OMIM ID | 180220 |
| HGNC ID | 9865 |
| Aliases | HAP, NR1B2, RARbeta, RRB2 |
Description
RARB (retinoic acid receptor beta) is a nuclear receptor that mediates the effects of retinoic acid, a derivative of vitamin A. It functions as a ligand-dependent transcription factor, regulating gene expression involved in cell growth, differentiation, apoptosis, and embryonic development. RARB is frequently silenced or mutated in various cancers, acting as a tumor suppressor. Alternative splicing generates multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microphthalmia, isolated, with coloboma 6 | Loss-of-function mutations in RARB disrupt retinoic acid signaling required for eye development | OMIM #615147 |
| Retinoic acid resistance in cancer | RARB promoter hypermethylation or mutation reduces sensitivity to retinoic acid therapy | ClinVar, COSMIC |
| Lung cancer | RARB downregulation or loss contributes to tumor progression | NCBI Gene, COSMIC |
| Breast cancer | RARB silencing via methylation is associated with poor prognosis | NCBI Gene, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 5.2 | Low |
| Kidney | 3.8 | Low |
| Liver | 2.1 | Low |
| Skin | 1.5 | Low |
| Testis | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 2.3 | Low expression |
| MCF7 (breast carcinoma) | 1.1 | Low expression |
| HEK293 (embryonic kidney) | 0.5 | Not detected |
| HepG2 (hepatocellular carcinoma) | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.115C>T (p.Arg39*) | Nonsense | Rare | Loss of function; premature truncation |
| c.464G>A (p.Arg155Gln) | Missense | Rare | Impaired ligand binding and transactivation |
| c.823C>T (p.Arg275Trp) | Missense | Rare | Reduced DNA binding and transcriptional activity |
| Promoter hypermethylation | Epigenetic | Frequent in cancers | Silencing of RARB expression |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that impair ligand binding, DNA binding, or transactivation lead to loss of tumor suppressor function.
Gain of Function (GOF)
Not reported; RARB is primarily a tumor suppressor with no known activating mutations.
Dominant Negative (DN)
Some missense variants (e.g., p.Arg275Trp) may interfere with wild-type receptor function in heterodimers.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Retinoic acid receptor signaling pathway (Reactome: R-HSA-5362514)
• Nuclear receptor transcription pathway (Reactome: R-HSA-383280)
• Retinoid metabolism and transport (Reactome: R-HSA-975634)
Protein Summary
Retinoic acid receptor beta (RARB) is a 448-amino-acid nuclear receptor with a conserved domain structure: an N-terminal activation function 1 (AF-1) domain, a DNA-binding domain (DBD) containing two zinc fingers, a hinge region, and a C-terminal ligand-binding domain (LBD) with activation function 2 (AF-2). It forms heterodimers with retinoid X receptors (RXRs) and binds to retinoic acid response elements (RAREs) to regulate transcription. RARB is implicated in development, differentiation, and tumor suppression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RARB Knockout HEK293 Cell Line | EDJ-KQ3694 | Human | 5915 | Details Get a Quote |
| RARB Knockout A-549 Cell Line | EDJ-KQ25704 | Human | 5915 | Details Get a Quote |
| RARB Knockout HeLa Cell Line | EDJ-KQ54295 | Human | 5915 | Details Get a Quote |
| RARB Knockout HCT 116 Cell Line | EDJ-KQ71255 | Human | 5915 | Details Get a Quote |
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