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 Vitamin D-Dependent Rickets, Type 2A. Among its related pathways are Gene Expression and Lipoprotein metabolism. 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 for NR1H2 Gene
-
Nuclear receptor. 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). Exhibits a ligand-dependent transcriptional activation activity (PubMed:25661920).
-
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 , fRNAdb sequence ontologies 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 dump
GeneHancers around NR1H2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the NR1H2 gene promoter:
Regulatory Element Products
Genomic Locations for NR1H2 Gene
Genomic Locations for NR1H2 Gene
- chr19:50,329,653-50,383,028
- (GRCh38/hg38)
- Size:
- 53,376 bases
- Orientation:
- Plus strand
- chr19:50,832,910-50,886,267
- (GRCh37/hg19)
Genomic View for NR1H2 Gene
Genes around NR1H2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.33 by Ensembl
- 19q13.33 by Entrez Gene
- 19q13.3 by HGNC
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.
Three dimensional structures from OCA and Proteopedia for NR1H2 Gene
Protein Expression for NR1H2 Gene
Post-translational modifications for NR1H2 Gene
Other Protein References for NR1H2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for NR1H2 (LXR beta/NR1H2)
-
Custom Antibody ServicesOriGene Antibodies for NR1H2
- Novus Biologicals Antibodies for NR1H2
-
Abcam antibodies for NR1H2
- Invitrogen Antibodies for NR1H2
- GeneTex NR1H2 antibody for NR1H2
-
Custom Antibody ServicesProSci Antibodies for NR1H2
-
Santa Cruz Biotechnology (SCBT) Antibodies for NR1H2
Protein Products
-
OriGene Purified Proteins for NR1H2
- 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
- Search GeneTex for Proteins for NR1H2
-
Abcam proteins for NR1H2
Assay Products
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
Suggested Antigen Peptide Sequences for NR1H2 Gene
- GenScript: Design optimal peptide antigens:
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
- GENATLAS Biochemistry:
- nuclear receptor subfamily 1,group H,member2,modulating gene activation by retinoic acid and thyroid hormone receptors
- UniProtKB/Swiss-Prot Function:
- Nuclear receptor. 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). Exhibits a ligand-dependent transcriptional activation activity (PubMed:25661920).
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:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 9013544 |
| GO:0001133 | RNA polymerase II transcription factor activity, sequence-specific transcription regulatory region DNA binding | IEA | -- |
| GO:0003677 | DNA binding | TAS,IEA | 7926814 |
| GO:0003700 | DNA binding transcription factor activity | IEA | -- |
Phenotypes for NR1H2 Gene
- MGI mutant phenotypes for NR1H2:
-
inferred from 5 alleles
- nervous system phenotype
- normal phenotype
- homeostasis/metabolism phenotype
- muscle phenotype
- cardiovascular system phenotype
- mortality/aging
- immune system phenotype
- cellular phenotype
- behavior/neurological phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- integument phenotype
- hematopoietic system phenotype
- skeleton phenotype
- liver/biliary system phenotype
- GenomeRNAi human phenotypes for NR1H2:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- Increased gamma-H2AX phosphorylation
- Synthetic lethal with Ras
- Dynamic nuclei (hole, folded or small irregular)
- Decreased NF-kappaB reporter expression
- Increased shRNA abundance (Z-score > 2)
- Decreased IL-8 secretion
- Decreased viability
- Decreased shRNA abundance (Z-score < -2)
- Decreased shRNA abundance
- Increased cell number in S
- Increased viability with neratinib
Animal Models for NR1H2 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for NR1H2
- Cyagen custom Knockout/knockin (KOKI) mouse models for NR1H2
-
-
ViGene Biosciences lentiviral particle packaged cDNA for NR1H2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for NR1H2 gene
- Search ViGene Biosciences for NR1H2
CRISPR Products
-
OriGene CRISPR knockouts for NR1H2
- genomics-online: gRNA clones - Search results for available NR1H2 gene related products
- Applied Biological Materials CRISPR for NR1H2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for NR1H2
- GenScript: Design CRISPR guide RNA sequences 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
- Search ViGene Biosciences for NR1H2
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for NR1H2
- Browse OriGene Inhibitory RNA Products For NR1H2
- genomics-online: shRNA clones - Search results for available NR1H2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for NR1H2 gene
Clone Products
- Sino Biological Human cDNA Clone for NR1H2
- VectorBuilder custom plasmid, inducible vectors for NR1H2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for NR1H2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available NR1H2 gene related products
- orf clones - Search results for available NR1H2 gene related products
- Applied Biological Materials Clones for NR1H2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for NR1H2
-
ViGene Biosciences adenoviral particle packaged cDNA for NR1H2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for NR1H2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for NR1H2 gene
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 |
| cytosol | 2 |
| peroxisome | 1 |
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA,IEA | 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 |
.37
|
|
| 4 | Nuclear Receptor transcription pathway | ||
| 5 | Insulin resistance | ||
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:
ENSP00000253727
P55055-NR1H2_HUMAN
for NR1H2 Gene via
STRING
IID
MINT
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| 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 | -- |
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 |
|---|
(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 :
- (13) Additional mRNA sequences :
- (503) Selected AceView cDNA sequences:
- (13) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for NR1H2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for NR1H2
- genomics-online: gRNA clones - Search results for available NR1H2 gene related products
- Applied Biological Materials CRISPR for NR1H2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for NR1H2
- GenScript: Design CRISPR guide RNA sequences for NR1H2
miRNA Products
- Search ViGene Biosciences for NR1H2
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for NR1H2
- Browse OriGene Inhibitory RNA Products For NR1H2
- genomics-online: shRNA clones - Search results for available NR1H2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for NR1H2 gene
Clone Products
- Sino Biological Human cDNA Clone for NR1H2
- VectorBuilder custom plasmid, inducible vectors for NR1H2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for NR1H2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available NR1H2 gene related products
- orf clones - Search results for available NR1H2 gene related products
- Applied Biological Materials Clones for NR1H2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
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, PaxDb, MaxQB, and MOPED for NR1H2 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of NR1H2 Gene:
NR1H2SOURCE 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(2.6)
- 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 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | NR1H2 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Nr1h2 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Nr1h2 33 |
|
||
| cow (Bos Taurus) |
Mammalia | NR1H2 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
ManyToMany | |
| lizard (Anolis carolinensis) |
Reptilia | NR1H2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | nr1h2 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | nr1h5 34 |
|
ManyToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP012211 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | EcR 35 33 34 |
|
- 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)
Paralogs for NR1H2 Gene
(34) SIMAP similar genes for NR1H2 Gene using alignment to 12 proteins:
Variants for NR1H2 Gene
| SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000022251 | -- | 50,380,396(+) | G/A | intron_variant | |
| rs1000159721 | -- | 50,376,247(+) | G/A | upstream_transcript_variant | |
| rs1000300894 | -- | 50,377,352(+) | G/A | intron_variant | |
| rs1000609313 | -- | 50,380,209(+) | A/C | intron_variant | |
| rs1001001507 | -- | 50,379,483(+) | T/A | intron_variant |
| 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 |
|
|
| vitamin d-dependent rickets, type 2a |
|
|
| prostate disease |
|
|
| tuberous sclerosis 2 |
|
|
| biliary tract disease |
|
|
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 22 44 58
- 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 22 58
- 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 58
- 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 44 58
- Suggestive evidence of associations between liver X receptor β polymorphisms with type 2 diabetes mellitus and obesity in three cohort studies: HUNT2 (Norway), MONICA (France) and HELENA (Europe). (PMID: 20939869) Solaas K … Nebb HI (BMC medical genetics 2010) 3 44 58
Products for NR1H2 Gene
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- antibodies-online: Search results for 112 available NR1H2 Antibodies ranked by validation data
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- GeneTex NR1H2 antibody for NR1H2
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Sources for NR1H2 Gene
- (1) GeneCards
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- (68) Cloud-Clone Corp.
- (69) OCA
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- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
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