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The liver X receptors, LXRA (NR1H3; MIM 602423) and LXRB, form a subfamily of the nuclear receptor superfamily and are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. The inducible LXRA is highly expressed in liver, adrenal gland, intestine, adipose tissue, macrophages, lung, and kidney, whereas LXRB is... See more...
Aliases for NR1H2 Gene
Aliases for NR1H2 Gene
External Ids for NR1H2 Gene
- HGNC: 7965
- NCBI Entrez Gene: 7376
- Ensembl: ENSG00000131408
- OMIM®: 600380
- UniProtKB/Swiss-Prot: P55055
Previous HGNC Symbols for NR1H2 Gene
- UNR
Previous GeneCards Identifiers for NR1H2 Gene
- GC19P051508
- GC19P051241
- GC19P055508
- GC19P055571
- GC19P050879
- GC19P047217
Summaries for NR1H2 Gene
-
The liver X receptors, LXRA (NR1H3; MIM 602423) and LXRB, form a subfamily of the nuclear receptor superfamily and are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. The inducible LXRA is highly expressed in liver, adrenal gland, intestine, adipose tissue, macrophages, lung, and kidney, whereas LXRB is ubiquitously expressed. Ligand-activated LXRs form obligate heterodimers with retinoid X receptors (RXRs; see MIM 180245) and regulate expression of target genes containing LXR response elements (summary by Korf et al., 2009 [PubMed 19436111]).[supplied by OMIM, Jan 2010]
GeneCards Summary for NR1H2 Gene
NR1H2 (Nuclear Receptor Subfamily 1 Group H Member 2) is a Protein Coding gene. Diseases associated with NR1H2 include Complete Androgen Insensitivity Syndrome and Biliary Tract Disease. Among its related pathways are Insulin resistance and Gene Expression. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is NR1H3.
UniProtKB/Swiss-Prot Summary for NR1H2 Gene
-
Nuclear receptor that exhibits a ligand-dependent transcriptional activation activity (PubMed:25661920). Binds preferentially to double-stranded oligonucleotide direct repeats having the consensus half-site sequence 5'-AGGTCA-3' and 4-nt spacing (DR-4). Regulates cholesterol uptake through MYLIP-dependent ubiquitination of LDLR, VLDLR and LRP8; DLDLR and LRP8. Interplays functionally with RORA for the regulation of genes involved in liver metabolism (By similarity). Induces LPCAT3-dependent phospholipid remodeling in endoplasmic reticulum (ER) membranes of hepatocytes, driving SREBF1 processing and lipogenesis (By similarity). Via LPCAT3, triggers the incorporation of arachidonate into phosphatidylcholines of ER membranes, increasing membrane dynamics and enabling triacylglycerols transfer to nascent very low-density lipoprotein (VLDL) particles (By similarity). Via LPCAT3 also counteracts lipid-induced ER stress response and inflammation, likely by modulating SRC kinase membrane compartmentalization and limiting the synthesis of lipid inflammatory mediators (By similarity). Plays an anti-inflammatory role during the hepatic acute phase response by acting as a corepressor: inhibits the hepatic acute phase response by preventing dissociation of the N-Cor corepressor complex (PubMed:20159957).
-
Liver X receptors (LXRs) and farnesoid X receptors (FXRs) are members of the steroid analog-activated nuclear receptor subfamily, which form heterodimers with members of the retinoid X receptor family. There are two closely related isoforms of each of these enzymes; alpha and beta.
Additional gene information for NR1H2 Gene
- HGNC (7965)
- NCBI Entrez Gene (7376)
- Ensembl (ENSG00000131408)
- OMIM® (600380)
- UniProtKB/Swiss-Prot (P55055)
- Open Targets Platform(ENSG00000131408)
- Alliance of Genome Resources
- Search for NR1H2 at DataMed
- Search for NR1H2 at HumanCyc
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NR1H2 Gene
Genomics for NR1H2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for NR1H2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around NR1H2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NR1H2
- Top Transcription factor binding sites by QIAGEN in the NR1H2 gene promoter:
-
- Elk-1
- HOXA3
- NF-kappaB
- NF-kappaB1
Genomic Locations for NR1H2 Gene
Latest Assembly
- chr19:50,329,653-50,383,388
- (GRCh38/hg38)
- Size:
- 53,736 bases
- Orientation:
- Plus strand
Previous Assembly
- chr19:50,879,714-50,886,645
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 6,932 bases
- Orientation:
- Plus strand
Genomic View for NR1H2 Gene
Genes around NR1H2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.3 by HGNC
- 19q13.33 by Entrez Gene
- 19q13.33 by Ensembl
NR1H2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for NR1H2 Gene
Proteins for NR1H2 Gene
-
Protein details for NR1H2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P55055-NR1H2_HUMAN
- Recommended name:
- Oxysterols receptor LXR-beta
- Protein Accession:
- P55055
- A8K490
- B4DNM6
- E7EWA6
- Q12970
- Q5I0Y1
Protein attributes for NR1H2 Gene
- Size:
- 460 amino acids
- Molecular mass:
- 50974 Da
- Quaternary structure:
-
- Forms a heterodimer with RXR. Interacts with CCAR2 (via N-terminus) in a ligand-independent manner (PubMed:25661920). Interacts (when sumoylated) with GPS2; interaction with GPS2 onto hepatic acute phase protein promoters prevents N-Cor corepressor complex dissociation (PubMed:20159957).
Three dimensional structures from OCA and Proteopedia for NR1H2 Gene
Protein Expression for NR1H2 Gene
Post-translational modifications for NR1H2 Gene
- Sumoylated by SUMO2 at Lys-409 and Lys-447 during the hepatic acute phase response, leading to promote interaction with GPS2 and prevent N-Cor corepressor complex dissociation.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for NR1H2 Gene
Antibodies for research
- LifeSpan BioSciences NR1H2 / LXR Beta Antibody
- G Biosciences Immunotagā¢ NR1H2 Antibody
-
Custom Antibody ServicesOriGene Antibodies for NR1H2
- Novus Biologicals Antibodies for NR1H2
- Invitrogen Antibodies for NR1H2 (AFLGC-NR1H2)
-
Santa Cruz Biotechnology (SCBT) Antibodies for NR1H2
- Sino Biological Antibodies for NR1H2
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for NR1H2
- Origene Custom Protein Services for NR1H2
- Novus Biologicals proteins for NR1H2
- ProSpec Recombinant Proteins for NR1H2
-
Abcam proteins for NR1H2
Assay products for research
No data available for DME Specific Peptides for NR1H2 Gene
Domains & Families for NR1H2 Gene
Gene Families for NR1H2 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Nuclear receptors
- Predicted intracellular proteins
- Transcription factors
Protein Domains for NR1H2 Gene
- InterPro:
- Blocks:
-
- Vitamin D receptor signature
- Steroid hormone receptor signature
Suggested Antigen Peptide Sequences for NR1H2 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ34216 fis, clone FCBBF3022005, highly similar to OXYSTEROLS RECEPTOR LXR-BETA (B3KRG6_HUMAN)
- Liver X receptor beta (B6ZGS7_HUMAN)
- Liver X nuclear receptor beta (F1D8P7_HUMAN)
- Ubiquitously-expressed nuclear receptor (NR1H2_HUMAN)
- NR1H2 protein (Q6IBU6_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P55055- Family:
-
- Belongs to the nuclear hormone receptor family. NR1 subfamily.
Function for NR1H2 Gene
Molecular function for NR1H2 Gene
- UniProtKB/Swiss-Prot Function:
- Nuclear receptor that exhibits a ligand-dependent transcriptional activation activity (PubMed:25661920). Binds preferentially to double-stranded oligonucleotide direct repeats having the consensus half-site sequence 5'-AGGTCA-3' and 4-nt spacing (DR-4). Regulates cholesterol uptake through MYLIP-dependent ubiquitination of LDLR, VLDLR and LRP8; DLDLR and LRP8. Interplays functionally with RORA for the regulation of genes involved in liver metabolism (By similarity). Induces LPCAT3-dependent phospholipid remodeling in endoplasmic reticulum (ER) membranes of hepatocytes, driving SREBF1 processing and lipogenesis (By similarity). Via LPCAT3, triggers the incorporation of arachidonate into phosphatidylcholines of ER membranes, increasing membrane dynamics and enabling triacylglycerols transfer to nascent very low-density lipoprotein (VLDL) particles (By similarity). Via LPCAT3 also counteracts lipid-induced ER stress response and inflammation, likely by modulating SRC kinase membrane compartmentalization and limiting the synthesis of lipid inflammatory mediators (By similarity). Plays an anti-inflammatory role during the hepatic acute phase response by acting as a corepressor: inhibits the hepatic acute phase response by preventing dissociation of the N-Cor corepressor complex (PubMed:20159957).
- GENATLAS Biochemistry:
- nuclear receptor subfamily 1,group H,member2,modulating gene activation by retinoic acid and thyroid hormone receptors
Phenotypes From GWAS Catalog for NR1H2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 9013544 |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA | -- |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA | 9013544 |
| GO:0003677 | DNA binding | IEA,TAS | 7926814 |
| GO:0003700 | DNA-binding transcription factor activity | IEA | -- |
Phenotypes for NR1H2 Gene
- MGI mutant phenotypes for NR1H2:
-
inferred from 5 alleles
- normal phenotype
- nervous system phenotype
- muscle phenotype
- homeostasis/metabolism phenotype
- cellular phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- immune system phenotype
- respiratory system phenotype
- mortality/aging
- liver/biliary system phenotype
- hematopoietic system phenotype
- neoplasm
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- skeleton phenotype
- integument phenotype
- GenomeRNAi human phenotypes for NR1H2:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability
- no effect
- Inconclusive
- Decreased shRNA abundance
- Synthetic lethal with Ras
- Decreased viability (cell death)
- Decreased shRNA abundance (Z-score < -2)
- Increased cell number in S and G2M
- Increased caspase activity
- Increased gamma-H2AX phosphorylation
- Decreased IL-8 secretion
- Increased shRNA abundance (Z-score > 2)
- Decreased viability with neratinib
Animal Models for NR1H2 Gene
Animal Models for research
-
Taconic Biosciences Mouse Models for NR1H2
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for NR1H2 - Starting at $85 >
- * NR1H2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for NR1H2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NR1H2
-
Santa Cruz Biotechnology (SCBT) CRISPR for NR1H2
miRNA for NR1H2 Gene
- miRTarBase miRNAs that target NR1H2
-
- hsa-miR-7-5p (MIRT025788)
- hsa-miR-615-3p (MIRT040136)
- hsa-miR-136-5p (MIRT724632)
- hsa-miR-1292-3p (MIRT724633)
- hsa-miR-1178-5p (MIRT735866)
- hsa-miR-1249-5p (MIRT736448)
- hsa-miR-1321 (MIRT737347)
- hsa-miR-1343-5p (MIRT737480)
- hsa-miR-149-3p (MIRT737762)
- hsa-miR-194-3p (MIRT738596)
- hsa-miR-27a-5p (MIRT739455)
- hsa-miR-3150a-3p (MIRT740278)
- hsa-miR-3175 (MIRT740675)
- hsa-miR-3202 (MIRT741157)
- hsa-miR-320e (MIRT741208)
- hsa-miR-3616-3p (MIRT741677)
- hsa-miR-378g (MIRT742766)
- hsa-miR-4419a (MIRT744193)
- hsa-miR-4436b-3p (MIRT744466)
- hsa-miR-4510 (MIRT745632)
- hsa-miR-4632-5p (MIRT746276)
- hsa-miR-4667-5p (MIRT746803)
- hsa-miR-4697-3p (MIRT747221)
- hsa-miR-4700-5p (MIRT747280)
- hsa-miR-4728-5p (MIRT747858)
- hsa-miR-4731-5p (MIRT747942)
- hsa-miR-4739 (MIRT748065)
- hsa-miR-4747-5p (MIRT748259)
- hsa-miR-4756-5p (MIRT748437)
- hsa-miR-5196-5p (MIRT750043)
- hsa-miR-5693 (MIRT751234)
- hsa-miR-6127 (MIRT752107)
- hsa-miR-6129 (MIRT752179)
- hsa-miR-6130 (MIRT752268)
- hsa-miR-6133 (MIRT752372)
- hsa-miR-6134 (MIRT752445)
- hsa-miR-6735-5p (MIRT754179)
- hsa-miR-6763-5p (MIRT755020)
- hsa-miR-6785-5p (MIRT755853)
- hsa-miR-6797-5p (MIRT756208)
- hsa-miR-6825-5p (MIRT757003)
- hsa-miR-6879-5p (MIRT758267)
- hsa-miR-6883-5p (MIRT758438)
- hsa-miR-7843-5p (MIRT759768)
- hsa-miR-7854-3p (MIRT759928)
- hsa-miR-8089 (MIRT760275)
- hsa-miR-939-5p (MIRT760771)
Targeted motifs for NR1H2 Gene
HOMER Transcription Factor Regulatory Elements motif NR1H2
- Consensus sequence: GGGTTACTANAGGTCA Submotif: DR4 Cell Type: RAW GEO ID: GSE21512
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NR1H2
- Browse OriGene Inhibitory RNA Products For NR1H2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NR1H2
Clone products for research
- Applied Biological Materials (abm): Clones for NR1H2 - Starting at $45 >
- * NR1H2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for NR1H2
- Addgene plasmids for NR1H2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NR1H2
Cell Lines for research
-
Horizon Cell Lines for NR1H2
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for NR1H2 Gene
Localization for NR1H2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for NR1H2 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| plasma membrane | 2 |
| peroxisome | 2 |
| cytosol | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
- Nucleoplasm (4)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000785 | chromatin | ISA | -- |
| GO:0005634 | nucleus | IEA,IDA | 12393874 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005737 | cytoplasm | IDA | 12393874 |
Pathways & Interactions for NR1H2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Lipoprotein metabolism | ||
| 2 | Gene Expression |
.48
|
|
| 3 | Metabolism |
.40
|
|
| 4 | Nuclear Receptor transcription pathway | ||
| 5 | Glucose / Energy Metabolism | ||
Pathways by source for NR1H2 Gene
2 BioSystems pathways for NR1H2 Gene
9 Reactome pathways for NR1H2 Gene
1 KEGG pathway for NR1H2 Gene
1 Cell Signaling Technology pathway for NR1H2 Gene
Interacting Proteins for NR1H2 Gene
Selected Interacting proteins:
P55055-NR1H2_HUMAN
ENSP00000253727
for NR1H2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for NR1H2
SIGNOR curated interactions for NR1H2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IBA | 21873635 |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0006357 | regulation of transcription by RNA polymerase II | IEA | -- |
| GO:0006367 | transcription initiation from RNA polymerase II promoter | TAS | -- |
| GO:0006629 | lipid metabolic process | IEA | -- |
Drugs & Compounds for NR1H2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Diacerein | Approved, Investigational | Pharma | Target, inhibitor | 0 | ||
| Gefitinib | Approved, Investigational | Pharma | EGFR Inhibitors, Kinase Inhibitors, Epidermal growth factor receptor (EGFR) inhibitors | 410 | ||
| 1,1,1,3,3,3-HEXAFLUORO-2-{4-[(2,2,2-TRIFLUOROETHYL)AMINO]PHENYL}PROPAN-2-OL | Experimental | Pharma | Target | 0 | ||
| Benzenesulfinic acid | Experimental | Pharma | Target | 0 | ||
| GW-3965 | Experimental | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| GW 4064 |
|
278779-30-9 |
|
|
(3) Tocris Compounds for NR1H2 Gene
| Compound | Action | Cas Number |
|---|---|---|
| 27-Hydroxycholesterol | LXR agonist; also ER partial agonist | 20380-11-4 |
| GW 4064 | Selective farnesoid X receptor (FXR) agonist | 278779-30-9 |
| T 0901317 | Potent liver X receptor (LXR) agonist; also CAR inverse agonist | 293754-55-9 |
(6) ApexBio Compounds for NR1H2 Gene
| Compound | Action | Cas Number |
|---|---|---|
| Fexaramine | 574013-66-4 | |
| GW3965 | HLXRĪ±/hLXRĪ² agonist,potent and selective | 405911-09-3 |
| GW3965 HCl | 405911-17-3 | |
| LXR-623 | Liver X-receptor agonist | 875787-07-8 |
| SR-9243 | inverse agonist of LXR | 1613028-81-1 |
| T0901317 | Liver X receptor agonist,potent and selective | 293754-55-9 |
Transcripts for NR1H2 Gene
mRNA/cDNA for NR1H2 Gene
- 2 REFSEQ mRNAs :
- 17 NCBI additional mRNA sequence :
- 14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000253727 2416 nts (view in UCSC)
- ENST00000411902 1466 nts (view in UCSC)
- ENST00000593532 2380 nts (view in UCSC)
- ENST00000593926 1828 nts (view in UCSC)
- ENST00000595730 713 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for NR1H2 - Starting at $85 >
- * NR1H2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for NR1H2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NR1H2
-
Santa Cruz Biotechnology (SCBT) CRISPR for NR1H2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NR1H2
- Browse OriGene Inhibitory RNA Products For NR1H2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NR1H2
Clone products for research
- Applied Biological Materials (abm): Clones for NR1H2 - Starting at $45 >
- * NR1H2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for NR1H2
- Addgene plasmids for NR1H2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NR1H2
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | · | 7c | · | 7d | · | 7e | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - |
| ExUns: | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b |
|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||
| SP2: | |||||||||
| SP3: | |||||||||
| SP4: | |||||||||
| SP5: | |||||||||
| SP6: | |||||||||
| SP7: | |||||||||
| SP8: | |||||||||
| SP9: | |||||||||
| SP10: | |||||||||
| SP11: |
Relevant External Links for NR1H2 Gene
- GeneLoc Exon Structure for
- NR1H2
Expression for NR1H2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Bone (Muscoskeletal System)
This gene is overexpressed in Platelet (33.3), Placenta (22.5), and Peripheral blood mononuclear cells (6.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NR1H2 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NR1H2
SOURCE GeneReport for Unigene cluster for NR1H2 Gene:
Hs.432976mRNA Expression by UniProt/SwissProt for NR1H2 Gene:
P55055-NR1H2_HUMAN
Tissue specificity:
Ubiquitous.
Evidence on tissue expression from TISSUES for NR1H2 Gene
- Nervous system(4.9)
- Skin(4.8)
- Blood(4.5)
- Lung(3.2)
- Muscle(2.8)
- Liver(2.7)
- Intestine(2.6)
- Kidney(2.5)
- Eye(2.2)
- Heart(2.1)
- Adrenal gland(2.1)
Primer products for research
-
OriGene qPCR primer pairs for NR1H2
-
OriGene qPCR primer pairs and template standards for NR1H2
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NR1H2 Gene
Orthologs for NR1H2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | NR1H2 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | NR1H2 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Nr1h2 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Nr1h2 29 |
|
||
| Cow (Bos Taurus) |
Mammalia | NR1H2 29 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 30 |
|
ManyToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | NR1H2 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nr1h2 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | nr1h5 30 |
|
ManyToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP012211 29 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | EcR 29 30 31 |
|
OneToMany |
- Species where no ortholog for NR1H2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Platypus (Ornithorhynchus anatinus)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for NR1H2 Gene
- ENSEMBL:
- Gene Tree for NR1H2 (if available)
- TreeFam:
- Gene Tree for NR1H2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for NR1H2: view image
- Alliance of Genome Resources:
- Additional Orthologs for NR1H2
Paralogs for NR1H2 Gene
Paralogs for NR1H2 Gene
(34) SIMAP similar genes for NR1H2 Gene using alignment to 12 proteins:
- NR1H2_HUMAN
- B3KRG6_HUMAN
- B6ZGS7_HUMAN
- F1D8P7_HUMAN
- M0QYE6_HUMAN
- M0QZF5_HUMAN
- M0R0K3_HUMAN
- M0R1V8_HUMAN
- M0R229_HUMAN
- M0R2F9_HUMAN
- M0R3A7_HUMAN
- Q6IBU6_HUMAN
Variants for NR1H2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NR1H2 Gene
| SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1568595477 | Uncertain Significance: not provided | 50,379,802(+) |
G/A NM_007121.7(NR1H2):c.950G>A (p.Arg317Lys) |
MISSENSE | |
| rs41379547 | -- |
p.Ser2Phe |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1066389 | CNV | gain | 25217958 |
| nsv1071939 | CNV | deletion | 25765185 |
| nsv1133010 | OTHER | inversion | 24896259 |
| nsv1140251 | OTHER | inversion | 24896259 |
| nsv1152956 | OTHER | inversion | 26484159 |
Residual Variation Intolerance Score:
12.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
10.99;
92.04% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for NR1H2 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NR1H2 Gene
Disorders for NR1H2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| complete androgen insensitivity syndrome |
|
|
| biliary tract disease |
|
|
| cholestasis |
|
|
| acute promyelocytic leukemia |
|
|
| androgen insensitivity syndrome |
|
|
Search NR1H2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for NR1H2
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for NR1H2 Gene
Publications for NR1H2 Gene
- Functional and genetic analysis in type 2 diabetes of liver X receptor alleles--a cohort study. (PMID: 19292929) Dahlman I ā¦ Steffensen KR (BMC medical genetics 2009) 3 22 40
- The three-dimensional structure of the liver X receptor beta reveals a flexible ligand-binding pocket that can accommodate fundamentally different ligands. (PMID: 12819202) Färnegårdh M ā¦ Carlquist M (The Journal of biological chemistry 2003) 3 4 22
- CCAR2 negatively regulates nuclear receptor LXRĪ± by competing with SIRT1 deacetylase. (PMID: 25661920) Sakurabashi A ā¦ Fujii T (The Journal of steroid biochemistry and molecular biology 2015) 3 4
- GPS2-dependent corepressor/SUMO pathways govern anti-inflammatory actions of LRH-1 and LXRbeta in the hepatic acute phase response. (PMID: 20159957) Venteclef N ā¦ Treuter E (Genes & development 2010) 3 4
- Gene-gene interaction between heme oxygenase-1 and liver X receptor-beta and Alzheimer's disease risk. (PMID: 18597895) Infante J ā¦ Combarros O (Neurobiology of aging 2010) 3 40
ExternalLinks
Products for NR1H2 Gene
- Custom Antibody ServicesOriGene Antibodies for NR1H2
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for NR1H2
- Origene Custom Protein Services for NR1H2
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NR1H2
- Browse OriGene Inhibitory RNA Products For NR1H2
- OriGene qPCR primer pairs for NR1H2
- OriGene qPCR primer pairs and template standards for NR1H2
- OriGene CRISPR knockouts for NR1H2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For NR1H2
- Sino Biological Human cDNA Clone for NR1H2
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- Sino Biological Antibodies for NR1H2
- Browse Sino Biological Assays
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- Novus Biologicals proteins for NR1H2
- Browse Antibodies
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- ProSpec Recombinant Proteins for NR1H2
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- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for NR1H2 (AFLGC-NR1H2)
- ApexBio compounds for NR1H2
- VectorBuilder Custom and pre-made DNA vectors for NR1H2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for NR1H2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for NR1H2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for NR1H2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for NR1H2
- Addgene plasmids for NR1H2
- antibodies-online: Show 31 available NR1H2 Antibodies ranked by validation data
- Compare Top NR1H2 Antibodies
- antibodies-online: Show 11 available NR1H2 Elisa Kits ranked by validation data
- Compare Top NR1H2 Elisa Kits
- antibodies-online: Show 11 available NR1H2 Proteins ranked by validation data
- Compare Top NR1H2 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for NR1H2
- Search Santa Cruz Biotechnology (SCBT) for NR1H2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for NR1H2
- Custom Antibody ServicesProSci Antibodies for NR1H2
- Search for NR1H2 Proteins at ProSci
- Horizon Cell Lines for NR1H2
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NR1H2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NR1H2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for NR1H2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NR1H2
Sources for NR1H2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
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- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
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- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147)