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GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NR1H2
nuclear receptor subfamily 1 group H member 2
Chromosome 19 · 19q13.33
NCBI Gene: 7376Ensembl: ENSG00000131408.16HGNC: HGNC:7965UniProt: F1D8P7
189PubMed Papers
20Diseases
7Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
ReceptorTranscription Factor
RESEARCH IMPACT
Trending
CLINICAL
Clinical Trials
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of triglyceride biosynthetic processpositive regulation of cholesterol transportnegative regulation of lipid transportnegative regulation of cholesterol storageneurodegenerative diseaseAlzheimer diseasemultiple sclerosisParkinson disease
✦AI Summary

NR1H2 (LXRβ) is a ligand-dependent nuclear receptor that functions as a cholesterol sensor, regulating lipid homeostasis and metabolism 1. The receptor binds DNA at DR-4 elements and activates transcription in response to oxysterol binding 2. NR1H2 controls cholesterol uptake by regulating MYLIP-dependent ubiquitination of lipoprotein receptors (LDLR, VLDLR, LRP8) [UniProt], and coordinates LPCAT3-dependent phospholipid remodeling in hepatocyte endoplasmic reticulum membranes to promote SREBF1 processing and lipogenesis. The receptor also suppresses hepatic inflammation during acute phase responses by preventing N-Cor corepressor complex dissociation 3. NR1H2 demonstrates critical roles beyond lipid metabolism: it regulates pancreatic β-cell insulin secretion, with genetic variants associated with impaired insulin secretion in type 2 diabetes risk populations 4. The receptor controls pluripotency programming, where Nr1h2 activation alone rewires embryonic stem cells into expanded pluripotent states enabling enhanced blastoid formation and implantation capacity 5. NR1H2 variants associate with preeclampsia risk through effects on trophoblast invasion and endoglin regulation 6. Mediterranean diet interventions upregulate NR1H2 expression alongside other cholesterol efflux genes in cardiovascular high-risk patients 7, suggesting therapeutic potential for cardiovascular protection through dietary modulation of NR1H2 activity.

Sources cited
1
NR1H2 (LXRβ) is a ligand-dependent transcription factor that regulates cholesterol and lipid metabolism in response to cholesterol derivatives
PMID: 33713792
2
NR1H2 is ubiquitously expressed and activated by oxidized cholesterol metabolites (oxysterols) with roles in lipid metabolism and inflammation
PMID: 31671745
3
NR1H2 plays an anti-inflammatory role during hepatic acute phase response by acting as a corepressor to prevent N-Cor complex dissociation
PMID: 20159957
4
NR1H2 genetic variants associate with altered insulin secretion in subjects at increased type 2 diabetes risk
PMID: 21042792
5
Nr1h2 activation is sufficient to rewire embryonic stem cells into expanded pluripotent state enabling blastoid formation with enhanced implantation capacity
PMID: 39562549
6
NR1H2 polymorphism rs2695121 is strongly associated with preeclampsia risk through effects on trophoblast invasion and endoglin regulation
PMID: 22029530
7
Mediterranean diet interventions upregulate NR1H2 expression alongside cholesterol efflux genes in cardiovascular high-risk patients
PMID: 40344371
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.54Moderate
Alzheimer diseaseOpen Targets
0.50Moderate
multiple sclerosisOpen Targets
0.50Moderate
Parkinson diseaseOpen Targets
0.50Moderate
lysosomal storage diseaseOpen Targets
0.50Moderate
COVID-19Open Targets
0.36Weak
stricture or kinking of ureterOpen Targets
0.25Weak
major depressive disorderOpen Targets
0.22Weak
myoepithelial tumorOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Weak
atopic eczemaOpen Targets
0.10Weak
breast cancerOpen Targets
0.07Suggestive
non-small cell lung carcinomaOpen Targets
0.07Suggestive
hereditary palmoplantar keratoderma, Gamborg-Nielsen typeOpen Targets
0.06Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.06Suggestive
hyperkeratosis lenticularis perstansOpen Targets
0.06Suggestive
ichthyosis histrix, Lambert typeOpen Targets
0.06Suggestive
type 2 diabetes mellitusOpen Targets
0.06Suggestive
arteriosclerosisOpen Targets
0.05Suggestive
preeclampsiaOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets7
ABEQUOLIXRONPhase I/II
Liver X receptor agonist
non-small cell lung carcinoma
BMS-779788Phase I
LXR-beta agonist
arteriosclerosis
BMS-852927Phase I
LXR-alpha modulator
arteriosclerosis
CS-8080Phase I
LXR-alpha agonist
arteriosclerosis
HYODEOXYCHOLIC_ACIDPhase I
LXR-beta agonist
Hypercholesterolemia
LXR-623Phase I
LXR-alpha agonist
arteriosclerosis
ROVAZOLACPhase II
Liver X receptor agonist
atopic eczema
Related Genes
NCOA1Protein interaction94%ABCG1Protein interaction93%OGTProtein interaction90%NCOA2Protein interaction90%SREBF2Protein interaction89%ABCG8Protein interaction89%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
96%
Liver
65%
Ovary
62%
Heart
60%
Brain
36%
Gene Interaction Network
Click a node to explore
NR1H2NCOA1ABCG1OGTNCOA2SREBF2ABCG8
PROTEIN STRUCTURE
Preparing viewer…
PDB6S5K · 1.60 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.90LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.67 [0.50–0.90]
RankingsWhere NR1H2 stands among ~20K protein-coding genes
  • #2,270of 20,598
    Most Researched189 · top quartile
  • #8,138of 17,882
    Most Constrained (LOEUF)0.90
Genes detectedNR1H2
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Characterizing the tumor microenvironment of metastatic ovarian cancer by single-cell transcriptomics.
PMID: 34038734
Cell Rep · 2021
1.00
2
Nuclear receptor-SINE B1 network modulates expanded pluripotency in blastoids and blastocysts.
PMID: 39562549
Nat Commun · 2024
0.90
3
CES1 Increases Hepatic Triacylglycerol Synthesis Through Activation of PPARγ, LXR and SREBP1c.
PMID: 41090776
Cells · 2025
0.80
4
Liver X receptors and liver physiology.
PMID: 33713792
Biochim Biophys Acta Mol Basis Dis · 2021
0.80
5
Liver X Receptors and Male (In)fertility.
PMID: 31671745
Int J Mol Sci · 2019
0.70