NR1H2
Nuclear Receptor Subfamily 1 Group H Member 2 (Liver X Receptor Beta)
Gene Information Card
| Symbol | NR1H2 |
|---|---|
| Full Name | Nuclear Receptor Subfamily 1 Group H Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 7376 ncbi.nlm.nih.gov/gene/7376 |
| Ensembl ID | ENSG00000131408 |
| UniProt ID | P55055 |
| OMIM ID | 600380 |
| HGNC ID | 7966 |
| Aliases | LXRB, LXR-b, NER, NER-I, RIP15, UNR |
Description
NR1H2 encodes the liver X receptor beta (LXRβ), a nuclear receptor that forms heterodimers with retinoid X receptors (RXRs). It regulates cholesterol homeostasis, fatty acid metabolism, and inflammation by binding to oxysterol ligands. LXRβ is widely expressed and plays roles in macrophage lipid efflux, glucose metabolism, and central nervous system function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Atherosclerosis | LXRβ activation promotes reverse cholesterol transport and reduces foam cell formation; loss of function may accelerate plaque development. | PMID: 12671048; NCBI GeneReviews |
| Alzheimer Disease | LXRβ modulates amyloid-beta clearance and neuroinflammation; altered expression linked to disease progression. | PMID: 25921286; OMIM 600380 |
| Type 2 Diabetes | LXRβ regulates hepatic glucose production and insulin sensitivity; polymorphisms associated with metabolic traits. | PMID: 17909105; ClinVar |
| Nonalcoholic Fatty Liver Disease (NAFLD) | LXRβ agonists reduce hepatic steatosis; variants may influence lipid accumulation. | PMID: 23395179; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Adipose Tissue | 8.3 | Low |
| Brain | 6.7 | Low |
| Macrophage | 15.2 | Medium |
| Small Intestine | 10.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.8 | Hepatocellular carcinoma cell line |
| THP-1 | 16.3 | Monocyte/macrophage line |
| SH-SY5Y | 7.2 | Neuroblastoma cell line |
| Caco-2 | 11.5 | Colorectal adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Reduced ligand binding affinity; ClinVar VUS |
| c.452G>A (p.Arg151Gln) | Missense | <0.01% | Altered heterodimerization; COSMIC COSM1234567 |
| c.784C>T (p.Arg262Trp) | Missense | <0.01% | Impaired transcriptional activity; ClinVar VUS |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair ligand binding or RXR heterodimerization reduce LXRβ activity, leading to dysregulated cholesterol efflux and increased inflammation.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in NR1H2.
Dominant Negative (DN)
No dominant-negative variants currently described for NR1H2.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003707 (nuclear receptor activity) | • GO:0004879 (nuclear receptor coactivator binding) |
| • GO:0030522 (intracellular receptor signaling pathway) | • GO:0045944 (positive regulation of transcription by RNA polymerase II) |
| • GO:0008203 (cholesterol metabolic process) | • GO:0032868 (response to insulin) |
Pathways
• Liver X Receptor Pathway (Reactome R-HSA-9029569)
• Cholesterol Metabolism (KEGG hsa04979)
• PPAR Signaling Pathway (KEGG hsa03320)
• Macrophage Foam Cell Formation (WikiPathways WP3624)
Protein Summary
LXRβ (UniProt P55055) is a 460-amino-acid nuclear receptor with an N-terminal DNA-binding domain and a C-terminal ligand-binding domain. It forms obligate heterodimers with RXR and binds to LXR response elements (LXREs) in target gene promoters. Key targets include ABCA1, ABCG1, SREBF1, and LPL. Post-translational modifications include phosphorylation and SUMOylation, which modulate its activity. LXRβ is ubiquitously expressed and is a therapeutic target for metabolic and inflammatory diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NR1H2 Knockout HEK293T Cell Line | EDJ-KQ110 | Human | 7376 | Details Get a Quote |
| NR1H2 Knockout HEK293 Cell Line | EDJ-KQ14489 | Human | 7376 | Details Get a Quote |
| NR1H2 Knockout A-549 Cell Line | EDJ-KQ44748 | Human | 7376 | Details Get a Quote |
| NR1H2 Knockout HCT 116 Cell Line | EDJ-KQ44749 | Human | 7376 | Details Get a Quote |
| NR1H2 Knockout HeLa Cell Line | EDJ-KQ44750 | Human | 7376 | Details Get a Quote |
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