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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
- Entrez Gene: 7376
- Ensembl: ENSG00000131408
- OMIM: 600380
- UniProtKB: 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 Lipoprotein metabolism 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). 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.
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 for NR1H2 Gene
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 UCSC Golden Path with GeneCards custom track
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
Genomic Locations for NR1H2 Gene
- chr19:50,329,653-50,383,388
- (GRCh38/hg38)
- Size:
- 53,736 bases
- Orientation:
- Plus strand
- chr19:50,832,910-50,886,267
- (GRCh37/hg19)
- Size:
- 53,358 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
Antibody Products
- LifeSpan BioSciences NR1H2 / LXR Beta Antibody
- Creative Diagnostics Anti-NR1H2 monoclonal antibody
- Creative Biolabs Recombinant Anti-Human NR1H2 Antibody
-
Custom Antibody ServicesOriGene Antibodies for NR1H2
- Novus Biologicals Antibodies for NR1H2
- Invitrogen Antibodies for NR1H2 (AFLGC-NR1H2)
-
Custom Antibody ServicesProSci Antibodies for NR1H2
-
Santa Cruz Biotechnology (SCBT) Antibodies for NR1H2
Protein Products
- 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
-
Signalway Proteins for NR1H2
-
Abcam proteins for NR1H2
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
- Blocks:
-
- Steroid hormone receptor signature
- Vitamin D receptor signature
- InterPro:
- ProtoNet:
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). 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:0000976 | transcription regulatory region sequence-specific DNA binding | IBA | 21873635 |
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA | 21873635 |
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 9013544 |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | NAS | 19274049 |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA | 9013544 |
Phenotypes for NR1H2 Gene
- MGI mutant phenotypes for NR1H2:
-
inferred from 5 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- vision/eye phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- neoplasm
- integument phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- liver/biliary system phenotype
- reproductive system phenotype
- skeleton phenotype
- normal phenotype
- hematopoietic system phenotype
- immune system phenotype
- GenomeRNAi human phenotypes for NR1H2:
-
- Dynamic nuclei (hole, folded or small irregular)
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance
- Decreased viability
- Increased viability with neratinib
- no effect
- Increased caspase activity
- Increased vaccinia virus (VACV) infection
- Increased gamma-H2AX phosphorylation
- Synthetic lethal with Ras
- Decreased NF-kappaB reporter expression
- Decreased shRNA abundance (Z-score < -2)
- Increased cell number in S
- Decreased IL-8 secretion
- Increased viability
Animal Models for NR1H2 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for NR1H2
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NR1H2 - Select products 50% OFF >
- * NR1H2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for NR1H2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NR1H2
- genomics-online: gRNA clones - Search results for available NR1H2 gene related products
-
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
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for available NR1H2 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for NR1H2 - Select products 50% OFF >
- * NR1H2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for NR1H2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NR1H2
- genomics-online: cdna clones - Search results for available NR1H2 gene related products
- orf clones - Search results for available NR1H2 gene related products
Cell Line Products
-
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 |
| extracellular | 2 |
| mitochondrion | 2 |
| peroxisome | 2 |
| cytosol | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (4)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000790 | nuclear chromatin | ISA | -- |
| GO:0005634 | nucleus | IEA,IDA | 12393874 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005737 | cytoplasm | IDA | 12393874 |
| GO:0090575 | RNA polymerase II transcription factor complex | IBA | 21873635 |
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:0006367 | transcription initiation from RNA polymerase II promoter | TAS | -- |
| GO:0006629 | lipid metabolic process | IBA | 21873635 |
| GO:0007275 | multicellular organism development | IBA | 21873635 |
Drugs & Compounds for NR1H2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Diacerein | Approved, Investigational | Pharma | Target, inhibitor | 0 | ||
| (3-{3-[[2-Chloro-3-(Trifluoromethyl)Benzyl](2,2-Diphenylethyl)Amino]Propoxy}Phenyl)Acetic Acid | Experimental | Pharma | Target | 0 | ||
| 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 | ||
| N-(2,2,2-TRIFLUOROETHYL)-N-{4-[2,2,2-TRIFLUORO-1-HYDROXY-1-(TRIFLUOROMETHYL)ETHYL]PHENYL}BENZENESULFONAMIDE | 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 | HLXRα/hLXRβ 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 bps (ENST00000253727.10)
- ENST00000411902 1466 bps (ENST00000411902.6)
- ENST00000593532 2380 bps (ENST00000593532.5)
- ENST00000593926 1828 bps (ENST00000593926.5)
- ENST00000595730 713 bps (ENST00000595730.5)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NR1H2 - Select products 50% OFF >
- * NR1H2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for NR1H2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NR1H2
- genomics-online: gRNA clones - Search results for available NR1H2 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for NR1H2
miRNA Products
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for available NR1H2 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for NR1H2 - Select products 50% OFF >
- * NR1H2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for NR1H2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NR1H2
- genomics-online: cdna clones - Search results for available NR1H2 gene related products
- orf clones - Search results for available NR1H2 gene related products
| 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(4.7)
- Blood(4.4)
- Lung(2.9)
- Liver(2.7)
- Eye(2.2)
- Intestine(2.2)
- Muscle(2.2)
Primer Products
-
OriGene qPCR primer pairs for NR1H2
-
OriGene qPCR primer pairs and template standards for NR1H2
- genomics-online: primer clones - Search results for available NR1H2 gene related products
Gene Expression Assay Products
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 31 30 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | NR1H2 31 30 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Nr1h2 17 31 30 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Nr1h2 30 |
|
||
| cow (Bos Taurus) |
Mammalia | NR1H2 31 30 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
| lizard (Anolis carolinensis) |
Reptilia | NR1H2 31 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | nr1h2 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | nr1h5 31 |
|
ManyToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP012211 30 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | EcR 31 32 30 |
|
OneToMany |
- Species where no ortholog for NR1H2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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
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 | MISSENSE_VARIANT | |
| rs41379547 | - | p.Ser2Phe |
| 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 Assay Products
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 |
|
|
| androgen insensitivity syndrome |
|
|
| cholestasis |
|
|
| myasthenic syndrome, congenital, 10 |
|
|
Search NR1H2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for NR1H2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 … Steffensen KR (BMC medical genetics 2009) 3 23 41 54
- 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 … Carlquist M (The Journal of biological chemistry 2003) 3 4 23 54
- CCAR2 negatively regulates nuclear receptor LXRα by competing with SIRT1 deacetylase. (PMID: 25661920) Sakurabashi A … Fujii T (The Journal of steroid biochemistry and molecular biology 2015) 3 4 54
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
- Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease. (PMID: 20855565) Peloso GM … Brousseau ME (Journal of lipid research 2010) 3 41 54
ExternalLinks
Products for NR1H2 Gene
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- Humanized Mice
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- antibodies-online: Show 31 available NR1H2 Antibodies ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for NR1H2
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- Santa Cruz Biotechnology (SCBT) CRISPR for NR1H2
- Custom Antibody ServicesProSci Antibodies for NR1H2
- Search for NR1H2 Proteins at ProSci
- Horizon Cell Lines for NR1H2
- genomics-online: cdna clones - Search results for available NR1H2 gene related products
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- genomics-online: shRNA clones - Search results for available NR1H2 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NR1H2
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NR1H2
- Search for NR1H2 ELISA kits at Signalway
- Signalway Proteins for NR1H2
Sources for NR1H2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8)