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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NR1H2 Gene

protein-coding   GIFtS: 63
GCID: GC19P050879

nuclear receptor subfamily 1, group H, member 2

(Previous name: ubiquitously-expressed nuclear receptor )
(Previous symbol: UNR)
 Explore 150 diseases affiliated with
NR1H2 via our new
 Human Malady Compendium 
Biological research products
for NR1H2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Nuclear Receptor Subfamily 1, Group H, Member 21 2     LXRB2 3
UNR1 2 3 5     Liver X Nuclear Receptor Beta2
Ubiquitously-Expressed Nuclear Receptor1 2 3     LX Receptor Beta2
NER1 2 3     Nuclear Orphan Receptor LXR-Beta2
LXR-B1     Oxysterols Receptor LXR-Beta2
NER-I1 2     Steroid Hormone-Nuclear Receptor NER2
RIP151 2     Liver X Receptor Beta3
Nuclear Receptor NER2 3     Nuclear Receptor Subfamily 1 Group H Member 23

External Ids:    HGNC: 79651   Entrez Gene: 73762   Ensembl: ENSG000001314087   OMIM: 6003805   UniProtKB: P550553   

Export aliases for NR1H2 gene to outside databases

Previous GC identifers: GC19P051508 GC19P051241 GC19P055508 GC19P055571 GC19P047217


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NR1H2:
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)

UniProtKB/Swiss-Prot: NR1H2_HUMAN, P55055
Function: Orphan 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 (By similarity)

summary for NR1H2:
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; LXRalpha and LXRbeta, and FXRalpha and FXRbeta
(pseudogene in man). LXRalpha and FXRalpha expression is restricted to the liver, small intestine, kidney
and adrenal gland, whilst LXRbeta and FXRbeta are ubiquitously expressed. Despite acting on some of the same
target genes, including cholesterol 7alpha-hydroxylase (CYP7A1) and SREBP-1c, LXRs and FXRs have different
physiological roles. LXRs are involved in cholesterol homeostasis, inhibition of proinflammatory gene
expression in atherosclerosis and activation of innate immunity, whilst FXRs have a vital function in bile
acid homeostasis.

Gene Wiki entry for NR1H2 (Liver X receptor beta)


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NR1H2 gene promoter:
         Elk-1   HOXA3   NF-kappaB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NR1H2 promoter sequence
   Search SABiosciences Chromatin IP Primers for NR1H2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NR1H2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.3   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.3

NR1H2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NR1H2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P050879:  view genomic region     (about GC identifiers)

Start:
50,832,949 bp from pter      End:
50,886,267 bp from pter
Size:
53,319 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NR1H2_HUMAN, P55055 (See protein sequence)
Recommended Name: Oxysterols receptor LXR-beta  
Size: 460 amino acids; 50974 Da
Subunit: Forms a heterodimer with RXR
Subcellular location: Nucleus (Potential)
6/10 PDB 3D structures from and Proteopedia for NR1H2 (see all 10):
1P8D (3D)        1PQ6 (3D)        1PQ9 (3D)        1PQC (3D)        1UPV (3D)        1UPW (3D)    
Secondary accessions: A8K490 Q12970 Q5I0Y1

Explore the universe of human proteins at neXtProt for NR1H2: NX_P55055

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P55055

  • NR1H2 Protein expression data from MOPED and PaxDb:    About this image 
    NR1H2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001243576.1  NP_009052.3  

    ENSEMBL proteins: 
     ENSP00000253727   ENSP00000396151   ENSP00000445074  
    Reactome Protein details: P55055
    Human Recombinant Protein Products for NR1H2: 
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    Novus Biologicals NR1H2 Proteins
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    ProSpec Recombinant Protein for NR1H2
    Browse Proteins at Uscn

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA12393874
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IDA12393874

    NR1H2 for ontologies           About GeneDecksing



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    Browse ELISAs and CLIAs at Uscn


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    NR1H2 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR013088 Znf_NHR/GATA
     IPR008946 Nucl_hormone_rcpt_ligand-bd
     IPR000536 Nucl_hrmn_rcpt_lig-bd_core
     IPR001628 Znf_hrmn_rcpt
     IPR023257 Liver_X_rcpt

    Graphical View of Domain Structure for InterPro Entry P55055

    ProtoNet protein and cluster: P55055

    2 Blocks protein families:
    IPB000324 Vitamin D receptor signature
    IPB001723 Steroid hormone receptor signature


    UniProtKB/Swiss-Prot: NR1H2_HUMAN, P55055
    Similarity: Belongs to the nuclear hormone receptor family. NR1 subfamily
    Similarity: Contains 1 nuclear receptor DNA-binding domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NR1H2_HUMAN, P55055
    Function: Orphan 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 (By similarity)

         Genatlas biochemistry entry for NR1H2:
    nuclear receptor subfamily 1,group H,member2,modulating gene activation by retinoic acid and thyroid hormone receptors

         Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001133sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity IEA--
    GO:0003677DNA binding TAS7926814
    GO:0003700sequence-specific DNA binding transcription factor activity ----
    GO:0003707steroid hormone receptor activity IEA--
    GO:0004879ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity IEA--
         
    NR1H2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for NR1H2:
     Increased cell number in S and  Increased gamma-H2AX phosphory  Synthetic lethal with Ras 

         15/16 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Nr1h2) (see all 16):
     behavior/neurological  cardiovascular system  cellular  endocrine/exocrine gland  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 
     muscle  nervous system  normal  other  reproductive system 

    NR1H2 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-outs for NR1H2: Nr1h2tm1Dgen Nr1h2tm1.1Gstr Nr1h2tm1.1Nph Nr1h2tm1Djm
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for NR1H2 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NR1H2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Generic Transcription Pathway
    Generic Transcription Pathway1.00
    Gene Expression0.46
    2Nuclear Receptor transcription pathway
    Nuclear Receptor transcription pathway1.00
    Nuclear Receptors0.68
    3Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    SREBP signalling0.46

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 BioSystems Pathways for NR1H2 
        Nuclear Receptors
    SREBP signalling

    3        Reactome Pathways for NR1H2
        Generic Transcription Pathway
    Nuclear Receptor transcription pathway
    Gene Expression



    NR1H2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NR1H2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/87 Interacting proteins for NR1H2 (P550551, 2, 3 ENSP000002537274) via UniProtKB, MINT, STRING, and/or I2D (see all 87)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DUSP12Q9UNI62, 3, ENSP000003569204MINT-8254567 I2D: score=2 STRING: ENSP00000356920
    SORBS2O948752, 3, ENSP000002847764MINT-8263951 I2D: score=2 STRING: ENSP00000284776
    CIDEAO605432, 3MINT-8089887 MINT-8089900 I2D: score=1 
    NCOA2Q155962, 3, ENSP000003999684MINT-8089920 I2D: score=1 STRING: ENSP00000399968
    C14orf1Q9UKR52, 3MINT-8263830 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/31 biological process terms (GO ID links to tree view) (see all 31):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006351transcription, DNA-dependent ----
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006357regulation of transcription from RNA polymerase II promoter ----
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--

    NR1H2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NR1H2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for NR1H2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    GW 3965 hydrochlorideOrally active liver X receptor (LXR) agonist[405911-09-3]
    T 0901317Potent liver X receptor (LXR) agonist[293754-55-9]

    4 DrugBank Compounds for NR1H2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    (3-{3-[[2-Chloro-3-(Trifluoromethyl)Benzyl](2,2-Diphenylethyl)Amino]Propoxy}Phenyl)Acetic Acid-- --target--17139284 17016423
    Benzenesulfonyl-- --target--17139284 17016423
    1,1,1,3,3,3-HEXAFLUORO-2-{4-[(2,2,2-TRIFLUOROETHYL)AMINO]PHENYL}PROPAN-2-OL-- --target--10592235
    N-(2,2,2-TRIFLUOROETHYL)-N-{4-[2,2,2-TRIFLUORO-1-HYDROXY-1-(TRIFLUOROMETHYL)ETHYL]PHENYL}BENZENESULFONAMIDE-- --target--10592235

    10/121 Novoseek chemical compound relationships for NR1H2 gene (see all 121)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    androstane 90.8 55 16399345 (2), 17132852 (2), 11981033 (2), 18362160 (2) (see all 49)
    retinoic acid 89.7 498 20123735 (3), 1712634 (3), 1328967 (2), 10567404 (2) (see all 99)
    retinoid 88.3 135 10331664 (2), 17320364 (2), 10876107 (2), 18632669 (2) (see all 99)
    steroid 84.1 337 11757905 (7), 19541426 (4), 19207820 (4), 19401208 (3) (see all 99)
    estrogen 81.2 193 18276948 (2), 14967140 (2), 2340506 (2), 9717844 (2) (see all 99)
    vitamin d 79.8 149 17132852 (2), 9263679 (2), 19910507 (2), 15663994 (2) (see all 99)
    gw 3965 74.7 1 12819202 (1)
    ttnpb 73.7 4 10996432 (1), 18162363 (1), 11850224 (1)
    rosiglitazone 72.6 8 11185675 (1), 15242346 (1), 11438523 (1), 12767049 (1) (see all 8)
    ecdysone 69.4 20 18342247 (2), 9466931 (1), 16264191 (1), 20093179 (1) (see all 19)

    Search CenterWatch for drugs/clinical trials and news about NR1H2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NR1H2 gene (2 alternative transcripts): 
    NM_001256647.1  NM_007121.5  

    Unigene Cluster for NR1H2:

    Nuclear receptor subfamily 1, group H, member 2
    Hs.432976  [show with all ESTs]
    Unigene Representative Sequence: AK091535
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000253727(uc010enw.3) ENST00000411902 ENST00000542413(uc002prv.4 uc002psa.4)


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    Additional cDNA sequence: 

    AB307697.1 AK091535.1 AK290855.1 AK297978.1 BC007790.1 BC033500.1 BC047750.2 BC074500.1 
    CR456706.1 CR749648.1 HQ692835.1 U07132.1 U14534.1 

    23 DOTS entries:

    DT.448580  DT.100885856  DT.100885860  DT.100885855  DT.100885843  DT.102835618  DT.121420513  DT.100038302 
    DT.121420447  DT.121420503  DT.100885848  DT.91760893  DT.97862333  DT.100038299  DT.100837391  DT.100885841 
    DT.100885858  DT.121420499  DT.91760886  DT.91793298  DT.97862334  DT.100885863  DT.92369219 

    24/503 AceView cDNA sequences (see all 503):

    CR609885 BX490437 BF725106 BI859081 BF726063 CR604070 BQ953936 BI826244 
    CR592437 AI970022 CR598123 BQ067532 BI767687 BQ436846 CR603617 AI752434 
    BM716607 BQ222200 CA487853 BQ212165 BM559462 BX101626 AA359408 BQ923511 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for NR1H2 (see all 11)    About this scheme

    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:                                            -     -                                   -                                                                     

    ExUns: 11 ^ 12a · 12b ^ 13a · 13b
    SP1:                              
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for NR1H2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NR1H2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCTCTCCCCC
    NR1H2 Expression
    About this image
    See NR1H2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NR1H2

    SOURCE GeneReport for Unigene cluster: Hs.432976

    UniProtKB/Swiss-Prot: NR1H2_HUMAN, P55055
    Tissue specificity: Ubiquitous

        SABiosciences Expression via Pathway-Focused PCR Arrays including NR1H2: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
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              Fatty Liver in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for NR1H2 gene from 3/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia NR1H26
    --
    78(a)
    1 ↔ 1
    6(79748994-79759951)
    fruit fly
    (Drosophila melanogaster)
    Insecta EcR3 imaginal disc eversion ecdysteroid hormone
    receptor
    38(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea nhr-486
    nhr-86
    (see all 3)
    Nuclear hormone receptor family member nhr-8
    (see all 3)
    9(a)
    13(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    X(15708153-15716345)
    IV(7710977-7714670)


    ENSEMBL Gene Tree for NR1H2 (if available)
    TreeFam Gene Tree for NR1H2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NR1H2 gene
    VDR2  NR4A32  NR4A12  NR1I22  RARG2  NR1I32  THRB2  RARA2  
    NR4A22  NR1H42  RARB2  THRA2  NR1H32  
    18/32 SIMAP similar genes for NR1H2 using alignment to 13 protein entries:     NR1H2_HUMAN (see all proteins) (see all similar genes):
    DKFZp686D1580    NR3C2    NR1H3    HNF4G    NR1D2    VDR
    NR5A1    HNF4alpha    ESR1    NR1I3    NR1F1    NR1I1
    DKFZp686P04237    NR1i1    NR1H4    NR1A2    RARG    THRB

    NR1H2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    Human Gene Mutation Database (HGMD): NR1H2
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NR1H2
    DNA2.0 Custom Variant and Variant Library Synthesis for NR1H2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    NR1H2 for disorders           About GeneDecksing

    OMIM gene information: 600380    OMIM disorders: --

    20/150 diseases for NR1H2 (see all 150):    About MalaCards
    dosage-sensitive sex reversal    acyl-coa dehydrogenase    androgen insensitivity syndrome    acth-secreting pituitary adenoma
    complete androgen insensitivity syndrome    estrogen-receptor positive breast cancer    extraskeletal myxoid chondrosarcoma    sex reversal
    atherosclerosis    attention deficit hyperactivity disorder    retinol binding protein    cerebrotendinous xanthomatosis
    maturity-onset diabetes of the young    cholesterol    myxoid chondrosarcoma    non-small cell lung carcinoma
    polycystic ovary syndrome    seborrheic keratosis    familial combined hyperlipidemia    thyroid hormone resistance syndrome

    10/94 Novoseek disease relationships for NR1H2 gene (see all 94)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia promyelocytic acute 63.1 8 9108090 (1), 17699721 (1), 9531570 (1), 15942830 (1) (see all 8)
    thyroid hormone resistance 56.6 3 11845213 (1), 15579758 (1)
    breast cancer 54.4 66 20008677 (4), 10996432 (4), 12656669 (2), 18417735 (2) (see all 52)
    atherosclerosis 53.8 23 14671562 (1), 18375823 (1), 19243223 (1), 12364466 (1) (see all 22)
    insulin sensitivity 51.6 19 11516972 (1), 16050954 (1), 16328782 (1), 12163159 (1) (see all 19)
    cholestasis 51.6 17 20388526 (2), 16749856 (1), 16565602 (1), 18377365 (1) (see all 14)
    dyslipidemia 50.1 10 15922648 (2), 17084281 (1), 16870465 (1), 20388526 (1) (see all 9)
    metabolic disorder 50.1 11 16316322 (2), 17876520 (1), 17096060 (1), 17162257 (1) (see all 10)
    insulin resistance 48.1 14 11715152 (1), 18430774 (1), 18645617 (1), 15922648 (1) (see all 14)
    inflammation 46.6 72 18650918 (3), 16760748 (2), 18433989 (2), 11375111 (1) (see all 66)

    Human Genome Epidemiology (HuGE) Navigator: NR1H2 (17 documents)

    Export disorders for NR1H2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NR1H2 gene, integrated from 9 sources (see all 2280):
    (articles sorted by number of sources associating them with NR1H2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The three-dimensional structure of the liver X receptor beta reveals a flexible ligand-binding pocket that can accommodate fundamentally different ligands. (PubMed id 12819202)1, 2, 9 Farnegardh M.... Carlquist M. (2003)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Assignment of the human ubiquitous receptor gene (UNR) to 19q13.3 using fluorescence in situ hybridization. (PubMed id 7782080)1, 3 Le Beau M.M....Liao S. (1995)
    5. Ubiquitous receptor: a receptor that modulates gene a ctivation by retinoic acid and thyroid hormone receptors. (PubMed id 7971966)1, 3 Song C....Liao S. (1994)
    6. NER, a new member of the gene family encoding the human steroid hormone nuclear receptor. (PubMed id 7926814)1, 2 Shinar D.M.... Schmidt A. (1994)
    7. Functional and genetic analysis in type 2 diabetes of liver X receptor alleles--a cohort study. (PubMed id 19292929)1, 9 Dahlman I....Steffensen K.R. (2009)
    8. Liver X receptor gene polymorphisms and adipose tissue expression levels in obesity. (PubMed id 17108812)1, 9 Dahlman I....Dahlman-Wright K. (2006)
    9. Two distinct nuclear receptor-interaction domains and CREB-binding protein-dependent transactivation function of activating signal cointegrator-2. (PubMed id 11158331)1, 9 Lee S.K....Lee J.W. (2001)
    10. Liver X receptors interact with corepressors to regulate gene expression. (PubMed id 12663743)1, 9 Hu X....Lala D.S. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7376 HGNC: 7965 AceView: NR1H2 Ensembl:ENSG00000131408 euGenes: HUgn7376
    ECgene: NR1H2 H-InvDB: NR1H2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NR1H2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NR1H2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NR1H2 gene:
    Search GeneIP for patents involving NR1H2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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