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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
  • Nuclear Receptor Subfamily 1, Group H, Member 2 2 3
  • Nuclear Receptor NER 3 4
  • LXRB 3 4
  • UNR 3 4
  • NER 3 4
  • 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
  • LXR-B 3
  • NER-I 3
  • RIP15 3

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 thyroid hormone resistance. Among its related pathways are Gene Expression and Regulation of cholesterol biosynthesis by SREBP (SREBF). GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is NR4A2.

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).

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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NR1H2 Gene

Genomics for NR1H2 Gene

Regulatory Elements for NR1H2 Gene

Promoters for NR1H2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NR1H2 on UCSC Golden Path with GeneCards custom track

Genomic Location for NR1H2 Gene

Chromosome:
19
Start:
50,329,653 bp from pter
End:
50,383,028 bp from pter
Size:
53,376 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 StructureGene 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
    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.

    Three dimensional structures from OCA and Proteopedia for NR1H2 Gene

    Alternative splice isoforms for NR1H2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NR1H2 Gene

Proteomics data for NR1H2 Gene at MOPED

Post-translational modifications for NR1H2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NR1H2 Gene

Domains & Families for NR1H2 Gene

Gene Families for NR1H2 Gene

Graphical View of Domain Structure for InterPro Entry

P55055

UniProtKB/Swiss-Prot:

NR1H2_HUMAN :
  • Contains 1 nuclear receptor DNA-binding domain.
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
Domain:
  • Contains 1 nuclear receptor DNA-binding domain.
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

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).

Gene Ontology (GO) - Molecular Function for NR1H2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 9013544
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0003707 steroid hormone receptor activity IEA --
GO:0004879 RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding IEA --
GO:0005515 protein binding IPI 12393874
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 Model Products

miRNA for NR1H2 Gene

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

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NR1H2 Gene COMPARTMENTS Subcellular localization image for NR1H2 gene
Compartment Confidence
nucleus 5
cytosol 2
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for NR1H2 Gene

Pathways & Interactions for NR1H2 Gene

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

Pathways by source for NR1H2 Gene

2 BioSystems pathways for NR1H2 Gene
1 KEGG pathway for NR1H2 Gene

SIGNOR curated interactions for NR1H2 Gene

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 from RNA polymerase II promoter IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
genes like me logo Genes that share ontologies with NR1H2: view

Drugs & Compounds for NR1H2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
(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
Benzenesulfonyl 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
Fexaramine Experimental Pharma Agonist Potent, selective farnesoid X receptor (FXR) agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
DY 268
1609564-75-1
GW 3965 hydrochloride
405911-17-3
GW 4064
278779-30-9

(5) Tocris Compounds for NR1H2 Gene

Compound Action Cas Number
DY 268 Potent FXR antagonist 1609564-75-1
Fexaramine Potent, selective farnesoid X receptor (FXR) agonist 574013-66-4
GW 3965 hydrochloride Orally active liver X receptor (LXR) agonist 405911-17-3
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

(2) ApexBio Compounds for NR1H2 Gene

Compound Action Cas Number
GW3965 HCl 405911-17-3
T0901317 Liver X receptor agonist,potent and selective 293754-55-9
genes like me logo Genes that share compounds with NR1H2: view

Transcripts for NR1H2 Gene

Unigene Clusters for NR1H2 Gene

Nuclear receptor subfamily 1, group H, member 2:
Representative Sequences:

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
ECgene alternative splicing isoforms for
NR1H2

Expression for NR1H2 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for NR1H2 Gene



SOURCE GeneReport for Unigene cluster for NR1H2 Gene Hs.432976

mRNA Expression by UniProt/SwissProt for NR1H2 Gene

P55055-NR1H2_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with NR1H2: view

Protein tissue co-expression partners for NR1H2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia NR1H2 35
  • 83.84 (n)
  • 86.31 (a)
NR1H2 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NR1H2 35
  • 87.03 (n)
  • 92.75 (a)
NR1H2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nr1h2 35
  • 84.65 (n)
  • 90.29 (a)
Nr1h2 16
Nr1h2 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NR1H2 35
  • 98.63 (n)
  • 99.45 (a)
NR1H2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nr1h2 35
  • 84.57 (n)
  • 90.52 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 31 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia NR1H2 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nr1h2 35
  • 71.05 (n)
  • 79.32 (a)
zebrafish
(Danio rerio)
Actinopterygii nr1h5 36
  • 24 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta EcR 37
  • 38 (a)
EcR 35
  • 55.36 (n)
  • 45.91 (a)
EcR 36
  • 18 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012211 35
  • 67.42 (n)
  • 61.8 (a)
Species with no ortholog for NR1H2:
  • 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)

Paralogs for NR1H2 Gene

Paralogs for NR1H2 Gene

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

Variants for NR1H2 Gene

Sequence variations from dbSNP and Humsavar for NR1H2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs41379547 - 50,377,610(+) CATGT(C/T)CTCTC reference, missense
rs1880917 -- 50,380,118(+) ttgtg(C/T)gacgg intron-variant
rs1880918 -- 50,380,566(+) GTCCA(A/G)ACCCC intron-variant
rs1274505 -- 50,375,375(-) ctttg(G/T)gaggc upstream-variant-2KB
rs1274506 -- 50,375,344(-) aggtc(A/G)ggagt upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv3976n71 CNV Loss 21882294
nsv912281 CNV Loss 21882294
nsv912282 CNV Loss 21882294

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)

Relevant External Links for NR1H2 Gene

HapMap Linkage Disequilibrium report
NR1H2
Human Gene Mutation Database (HGMD)
NR1H2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NR1H2 Gene

Disorders for NR1H2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for NR1H2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
complete androgen insensitivity syndrome
  • testicular feminization
thyroid hormone resistance
  • thyroid hormone resistance syndrome
rickets, vitamin d-resistant, type iia
  • vitamin d-dependent rickets type ii
prostate disease
  • prostatic diseases
biliary tract disease
  • biliary tract diseases
- elite association - COSMIC cancer census association via MalaCards
Search NR1H2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NR1H2

Genetic Association Database (GAD)
NR1H2
Human Genome Epidemiology (HuGE) Navigator
NR1H2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NR1H2
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 K.R. (BMC Med. Genet. 2009) 3 23 48 67
  2. Liver X receptor in cholesterol metabolism. (PMID: 19837721) Zhao C. … Dahlman-Wright K. (J. Endocrinol. 2010) 3 23
  3. Induction of SREBP-1c mRNA by differentiation and LXR ligand in human keratinocytes. (PMID: 19242521) Yokoyama A. … Terui T. (J. Invest. Dermatol. 2009) 3 23
  4. Direct interaction of nuclear liver X receptor-beta with ABCA1 modulates cholesterol efflux. (PMID: 18782758) Hozoji M. … Ueda K. (J. Biol. Chem. 2008) 3 23
  5. Liver X receptors regulate adrenal steroidogenesis and hypothalamic-pituitary-adrenal feedback. (PMID: 16973760) Nilsson M. … Steffensen K.R. (Mol. Endocrinol. 2007) 3 23

Products for NR1H2 Gene

Sources for NR1H2 Gene

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