RXRB Gene: Retinoid X Receptor Beta
Nuclear receptor involved in gene regulation, metabolism, and cancer
Gene Information Card
| Symbol | RXRB |
|---|---|
| Full Name | Retinoid X Receptor Beta |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.32 |
| NCBI Gene ID | 6257 ncbi.nlm.nih.gov/gene/6257 |
| Ensembl ID | ENSG00000197971 |
| UniProt ID | P28702 |
| OMIM ID | 180246 |
| HGNC ID | 10478 |
| Aliases | H-2RIIBP, NR2B2, RXR-beta |
Description
The RXRB gene encodes retinoid X receptor beta, a member of the nuclear receptor superfamily. RXRB forms heterodimers with other nuclear receptors (e.g., RAR, VDR, PPAR) and regulates transcription of genes involved in cell differentiation, metabolism, and development. It is widely expressed and implicated in cancer and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | RXRB mutations or altered expression may disrupt heterodimer signaling, affecting cell proliferation and differentiation | COSMIC, ClinVar |
| Metabolic syndrome | RXRB variants influence lipid and glucose metabolism via PPAR/RXR pathways | OMIM, NCBI |
| Retinoic acid resistance | Loss of RXRB function reduces sensitivity to retinoid therapy in cancer cells | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 9.8 | Medium |
| Heart | 7.2 | Low |
| Brain | 6.1 | Low |
| Testis | 15.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| MCF7 | 11.5 | Breast cancer cell line |
| A549 | 8.9 | Lung cancer cell line |
| HEK293 | 7.3 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | 0.01% | p.Met1Val; potential loss of start codon |
| c.325C>T | missense | 0.03% | p.Arg109Trp; altered DNA binding |
| c.788G>A | missense | 0.02% | p.Arg263Gln; reduced heterodimerization |
Mutation functional classification
Loss of Function (LOF)
Mutations affecting the DNA-binding domain or ligand-binding domain reduce transcriptional activity.
Gain of Function (GOF)
Not well documented; rare activating mutations may enhance coactivator recruitment.
Dominant Negative (DN)
Some missense variants (e.g., p.Arg263Gln) can interfere with wild-type RXR function.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004879~nuclear receptor activity | • GO:0003707~steroid hormone receptor activity |
| • GO:0045944~positive regulation of transcription by RNA polymerase II | • GO:0008270~zinc ion binding |
| • GO:0005634~nucleus |
Pathways
• Retinoic acid receptor signaling pathway
• PPAR signaling pathway
• Vitamin D receptor pathway
• Thyroid hormone signaling pathway
Protein Summary
Retinoid X receptor beta (RXR-beta) is a 57 kDa nuclear receptor with a conserved DNA-binding domain and ligand-binding domain. It forms obligate heterodimers with several nuclear receptors to regulate gene expression. RXR-beta is ubiquitously expressed and plays key roles in development, metabolism, and cancer biology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RXRB Knockout HEK293 Cell Line | EDJ-KQ5695 | Human | 6257 | Details Get a Quote |
| RXRB Knockout A-549 Cell Line | EDJ-KQ29062 | Human | 6257 | Details Get a Quote |
| RXRB Knockout HCT 116 Cell Line | EDJ-KQ29063 | Human | 6257 | Details Get a Quote |
| RXRB Knockout HeLa Cell Line | EDJ-KQ27805 | Human | 6257 | Details Get a Quote |
| RXRB Knockout HAP1 Cell Line | EDC08126 | Human | 6257 | Details Get a Quote |
| RXRA and RXRB Knockout A-549 Cell Line | EDC08241 | Human | 6256 and 6257 | Details Get a Quote |
Displaying Records 1 To 6 Of 6 Records
