NR1H2 Gene (Protein Coding)

Nuclear Receptor Subfamily 1 Group H Member 2

GC19P050329
GIFtS:
49
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

  • Nuclear Receptor Subfamily 1 Group H Member 2 2 3 4 5
  • Ubiquitously-Expressed Nuclear Receptor 2 3 4
  • NER 2 3 4
  • Oxysterols Receptor LXR-Beta 3 4
  • Nuclear Receptor NER 3 4
  • LXR-B 2 3
  • NER-I 2 3
  • RIP15 2 3
  • LXRB 3 4
  • UNR 3 4
  • Nuclear Receptor Subfamily 1, Group H, Member 2 2
  • Steroid Hormone-Nuclear Receptor NER 3
  • Nuclear Orphan Receptor LXR-Beta 3
  • Liver X Nuclear Receptor Beta 3
  • Liver X Receptor-Beta 2
  • Liver X Receptor Beta 4
  • LX Receptor Beta 3
  • NR1H2 5
  • LXRb 2

External Ids for NR1H2 Gene

Previous HGNC Symbols for NR1H2 Gene

  • UNR

Previous GeneCards Identifiers for NR1H2 Gene

  • GC19P051508
  • GC19P051241
  • GC19P055508
  • GC19P055571
  • GC19P050879
  • GC19P047217

Summaries for NR1H2 Gene

Entrez Gene Summary 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 Nuclear Receptor transcription pathway and Sterol Regulatory Element-Binding Proteins (SREBP) signalling. 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).

Tocris Summary for NR1H2 Gene

  • 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.

Gene Wiki entry for NR1H2 Gene

Additional gene information for NR1H2 Gene

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

Download GeneHancer 2017 data
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

chr19:50,832,910-50,886,239
(GRCh37/hg19 by Ensembl)
Size:
53,330 bases
Orientation:
Plus strand

Genomic View for NR1H2 Gene

Genes around NR1H2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NR1H2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NR1H2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for NR1H2 Gene

Proteins for NR1H2 Gene

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  • Protein details for NR1H2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55055-NR1H2_HUMAN
    Recommended name:
    Oxysterols receptor LXR-beta
    Protein Accession:
    P55055
    Secondary Accessions:
    • 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

    Alternative splice isoforms for NR1H2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NR1H2 Gene

Protein Expression for NR1H2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

ENSEMBL proteins:
REFSEQ proteins:

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
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

UniProtKB/Swiss-Prot:

NR1H2_HUMAN :
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
Family:
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
genes like me logo Genes that share domains with NR1H2: view

Function for NR1H2 Gene

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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

Gene Ontology (GO) - Molecular Function 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 --
genes like me logo Genes that share ontologies with NR1H2: view
genes like me logo Genes that share phenotypes with NR1H2: view

Animal Models for NR1H2 Gene

MGI Knock Outs for NR1H2:

Animal Models for research

  • Taconic Biosciences Mouse Models for NR1H2
Targeted motifs for NR1H2 Gene
HOMER Transcription Factor Regulatory Elements motif NR1H2
  • Consensus sequence: GGGTTACTANAGGTCA Submotif: DR4 Cell Type: RAW GEO ID: GSE21512

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NR1H2 gene
Compartment Confidence
nucleus 5
plasma membrane 2
peroxisome 2
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NR1H2 Gene

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
genes like me logo Genes that share ontologies with NR1H2: view

Pathways & Interactions for NR1H2 Gene

genes like me logo Genes that share pathways with NR1H2: view

Pathways by source for NR1H2 Gene

1 KEGG pathway for NR1H2 Gene
1 Cell Signaling Technology pathway for NR1H2 Gene

SIGNOR curated interactions for NR1H2 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process 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 --
genes like me logo Genes that share ontologies with NR1H2: view

Drugs & Compounds for NR1H2 Gene

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(90) Drugs for NR1H2 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, Tocris, and Novoseek

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

(51) Additional Compounds for NR1H2 Gene - From: Novoseek and Tocris

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
genes like me logo Genes that share compounds with NR1H2: view

Drug products for research

Transcripts for NR1H2 Gene

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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 :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NR1H2

Alternative Splicing Database (ASD) splice patterns (SP) for NR1H2 Gene

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

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NR1H2 Gene

mRNA expression in normal human tissues for NR1H2 Gene
mRNA expression by GTEx for NR1H2 GenemRNA expression by BioGPS for NR1H2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NR1H2 Gene

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



Protein tissue co-expression partners 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.432976

mRNA 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(2.6)
  • Intestine(2.6)
  • Kidney(2.5)
  • Eye(2.2)
  • Heart(2.1)
  • Adrenal gland(2.1)
genes like me logo Genes that share expression patterns with NR1H2: view

Primer products 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.

Orthologs for NR1H2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia NR1H2 30 31
  • 98.63 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia NR1H2 30 31
  • 87.03 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Nr1h2 30 17 31
  • 84.65 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Nr1h2 30
  • 84.57 (n)
Cow
(Bos Taurus)
 Mammalia NR1H2 30 31
  • 83.84 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 31 (a)
 ManyToMany
Lizard
(Anolis carolinensis)
 Reptilia NR1H2 31
  • 73 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia nr1h2 30
  • 71.05 (n)
Zebrafish
(Danio rerio)
 Actinopterygii nr1h5 31
  • 24 (a)
 ManyToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP012211 30
  • 67.42 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta EcR 30 31 32
  • 55.36 (n)
 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

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
genes like me logo Genes that share paralogs with NR1H2: view

Variants for NR1H2 Gene

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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

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NR1H2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NR1H2 Gene

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

Variation tolerance for NR1H2 Gene

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

Human Gene Mutation Database (HGMD)
NR1H2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NR1H2

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

MalaCards: The human disease database

(16) MalaCards diseases for NR1H2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
complete androgen insensitivity syndrome
  • androgen insensitivity syndrome, complete
biliary tract disease
  • biliary tract abnormality
cholestasis
  • bile occlusion
acute promyelocytic leukemia
  • apl
androgen insensitivity syndrome
  • ais
- elite association - COSMIC cancer census association via MalaCards
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
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NR1H2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NR1H2 Gene

Publications for NR1H2 Gene

  1. 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
  2. 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
  3. 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
  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 … Treuter E (Genes & development 2010) 3 4
  5. Liver X receptor in cholesterol metabolism. (PMID: 19837721) Zhao C … Dahlman-Wright K (The Journal of endocrinology 2010) 3 23

ExternalLinks

View latest publications for NR1H2 gene in Mastermind

Products for NR1H2 Gene

  • Addgene plasmids for NR1H2

Sources for NR1H2 Gene