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NR1H2 Gene

protein-coding   GIFtS: 70
GCID: GC19P050879

Nuclear Receptor Subfamily 1, Group H, Member 2

(Previous name: ubiquitously-expressed nuclear receptor)
(Previous symbol: UNR)
  See NR1H2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Nuclear Receptor Subfamily 1, Group H, Member 21 2     RIP152
UNR1 2 3 5     Liver X Nuclear Receptor Beta2
Ubiquitously-Expressed Nuclear Receptor1 2 3     LX Receptor Beta2
Nuclear Receptor NER2 3     Nuclear Orphan Receptor LXR-Beta2
LXRB2 3     Oxysterols Receptor LXR-Beta2
NER2 3     Steroid Hormone-Nuclear Receptor NER2
Liver X Receptor-Beta1     Liver X Receptor Beta3
LXR-b2     Nuclear Receptor Subfamily 1 Group H Member 23
NER-I2     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 seborrheic keratosis. GO annotations related to this gene include ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is VDR.

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 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; 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) Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011109.17  
Regulatory elements:
   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 Chromatin IP Primers for NR1H2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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:
50,832,910 bp from pter      End:
50,886,267 bp from pter
Size:
53,358 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
Selected 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 B4DNM6 E7EWA6 Q12970 Q5I0Y1
Alternative splicing: 2 isoforms:  P55055-1   P55055-2   (No experimental confirmation)

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

Explore proteomics data for NR1H2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NR1H2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001243576.1  NP_009052.3  

    ENSEMBL proteins: 
     ENSP00000473099   ENSP00000472271   ENSP00000471294   ENSP00000396151   ENSP00000253727  
     ENSP00000470518   ENSP00000472138   ENSP00000472526   ENSP00000471194   ENSP00000469778  
     ENSP00000445074  
    Reactome Protein details: P55055

    NR1H2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for NR1H2
    OriGene Protein Over-expression Lysate for NR1H2
    OriGene MassSpec for NR1H2
    OriGene Custom Protein Services for NR1H2
    GenScript Custom Purified and Recombinant Proteins Services for NR1H2
    Novus Biologicals NR1H2 Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for NR1H2
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for NR1H2 

    NR1H2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of NR1H2
    R&D Systems Antibodies for NR1H2 (LXR beta/NR1H2)
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    Novus Biologicals NR1H2 Antibodies
    Abcam antibodies for NR1H2
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for NR1H2
    LSBio Antibodies in human, mouse, rat for NR1H2

    NR1H2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for NR1H2
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for NR1H2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    NR: Nuclear hormone receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: Liver X receptor-beta
    1H. Liver X receptor-like receptors

    Selected InterPro protein domains (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 domains:
    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


    Find genes that share domains with NR1H2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (see all 9):    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--
         
    Find genes that share ontologies with NR1H2           About GenesLikeMe


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

         Selected 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 

    Find genes that share phenotypes with NR1H2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for NR1H2: Nr1h2tm1.1Nph Nr1h2tm1.1Gstr Nr1h2tm1Dgen Nr1h2tm1Djm

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NR1H2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NR1H2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NR1H2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NR1H2

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  GGGTTACTANAGGTCA 

    miRNA
    Products:
        
    miRTarBase miRNAs that target NR1H2:
    hsa-mir-615-3p (MIRT040136), hsa-mir-7-5p (MIRT025788)

    Block miRNA regulation of human, mouse, rat NR1H2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NR1H2 (see all 9):
    hsa-miR-3690 hsa-miR-642a hsa-miR-18a hsa-miR-1321 hsa-miR-7 hsa-miR-320e hsa-miR-1207-5p hsa-miR-18b
    SwitchGear 3'UTR luciferase reporter plasmidNR1H2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NR1H2
    Predesigned siRNA for gene silencing in human, mouse, rat NR1H2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NR1H2

    Clone
    Products:
         
    OriGene clones in human, mouse for NR1H2 (see all 9)
    OriGene ORF clones in mouse, rat for NR1H2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NR1H2 (NM_007121)
    Sino Biological Human cDNA Clone for NR1H2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NR1H2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NR1H2

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for NR1H2 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NR1H2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NR1H2_HUMAN, P55055: Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    Find genes that share ontologies with NR1H2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for NR1H2 About    
    See pathways by source

    SuperPathContained pathways About
    1Nuclear Receptor transcription pathway
    Nuclear Receptor transcription pathway0.67
    Nuclear Receptors0.67
    2Gene Expression
    Generic Transcription Pathway0.40
    Gene Expression0.40
    3Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    SREBP signalling0.31


    Find genes that share SuperPaths with NR1H2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for NR1H2
        Nuclear Receptors
    SREBP signalling


    1 Reactome Pathway for NR1H2
        Nuclear Receptor transcription pathway


        Pathway & Disease-focused RT2 Profiler PCR Arrays including NR1H2: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Nuclear Receptors & Coregulators in human mouse rat
              Fatty Liver in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NR1H2

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

    Selected Interacting proteins for NR1H2 (P550551, 2, 3 ENSP000002537274) via UniProtKB, MINT, STRING, and/or I2D (see all 130)
    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): Selected biological process terms (see all 32):    About this table

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

    Find genes that share ontologies with NR1H2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for NR1H2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    GW 3965 hydrochlorideOrally active liver X receptor (LXR) agonist[405911-09-3]
    GW 4064Selective farnesoid X receptor (FXR) agonist[278779-30-9]
    Fexaramine Potent, selective farnesoid X receptor (FXR) agonist [574013-66-4]
    T 0901317Potent liver X receptor (LXR) agonist; also CAR inverse 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

    8 IUPHAR Ligands for NR1H2 (Liver X receptor-beta)    About this table
    LigandTypeActionAffinityPubmed IDs
    acetyl-podocarpic dimer
    AgonistAgonist911790770
    L-783483
    AgonistAgonist8.212072387
    GW3965
    AgonistAgonist7.5211985463
    T0901317
    AgonistAgonist7.311090131
    27-hydroxycholesterol
    AgonistAgonist7.1511504730
    24(S), 25-epoxycholesterol
    AgonistAgonist5.529013544
    22R-hydroxycholesterol
    AgonistAgonist5.528878485
    24(S)-hydroxycholesterol
    AgonistAgonist5.59013544

    Selected Novoseek inferred 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)



    Find genes that share compounds with NR1H2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000600355 ENST00000593532 ENST00000600978 ENST00000595730 ENST00000598168
    ENST00000411902 ENST00000253727(uc010enw.3) ENST00000597790 ENST00000597130
    ENST00000599105 ENST00000593926 ENST00000597157 ENST00000597085 ENST00000542413(uc002prv.4 uc002psa.4)

    miRNA
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    Block miRNA regulation of human, mouse, rat NR1H2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NR1H2 (see all 9):
    hsa-miR-3690 hsa-miR-642a hsa-miR-18a hsa-miR-1321 hsa-miR-7 hsa-miR-320e hsa-miR-1207-5p hsa-miR-18b
    SwitchGear 3'UTR luciferase reporter plasmidNR1H2 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: NR1H2 (NM_007121)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NR1H2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NR1H2
    Primer
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    OriGene qPCR primer pairs and template standards for NR1H2
    OriGene qSTAR qPCR primer pairs in human, mouse for NR1H2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NR1H2
      QuantiTect SYBR Green Assays in human, mouse, rat NR1H2
      QuantiFast Probe-based Assays in human, mouse, rat NR1H2

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 503):

    BI859081 AI752434 AA359408 BM458240 BX473301 BM665475 CR617823 CF132494 
    BQ222200 CR603617 CR592437 CR598124 BF725106 BI826244 BI767687 BP375539 
    BE303041 BI223808 BQ923511 BU187976 CR614375 BE382387 BX101626 BF726063 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    NR1H2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTCTCCCCC
    NR1H2 Expression
    About this image


    NR1H2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Bone (Muscoskeletal System)
             Bone Marrow
    NR1H2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NR1H2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.432976

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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NR1H2: 
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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

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    This gene was present in the common ancestor of animals.

    Orthologs for NR1H2 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nr1h21 , 5 nuclear receptor subfamily 1, group H, member 21, 5 84.65(n)1
    90.29(a)1
      7 (28.83 cM)5
    222601  NM_001285518.11  NP_001272447.11 
     445496165 
    lizard
    (Anolis carolinensis)
    Reptilia NR1H26
    nuclear receptor subfamily 1, group H, member 2
    73(a)
    1 ↔ 1
    6(79745911-79768001)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia nr1h21 nuclear receptor subfamily 1, group H, member 2 71.05(n)
    79.32(a)
      780314  NM_001079385.1  NP_001072853.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nr1h56
    nuclear receptor subfamily 1, group H, member 5
    24(a)
    many ↔ many
    8(11774623-11803504) ENSDARG00000031046
    fruit fly
    (Drosophila melanogaster)
    Insecta EcR1 , 3 imaginal disc eversion ecdysteroid
    hormone receptor3
    Ecdysone receptor1
    38(a)3
    55.36(n)1
    45.91(a)1
      355401  NM_165461.31  NP_724456.11 


    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)
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    Paralogs for NR1H2 gene
    VDR2  PPARD2  RARG2  NR1I22  PPARA2  THRB2  RARA2  NR1H42  
    NR1D22  RARB2  RORA2  RORB2  RORC2  NR1D12  NR1I32  PPARG2  
    THRA2  NR1H32  
    Selected SIMAP similar genes for NR1H2 using alignment to 12 protein entries:     NR1H2_HUMAN (see all proteins) (see all similar genes):
    DKFZp686D1580    NR3C2    HNF4G    VDR    NR5A1    NR1H3
    NR1D2    NR2C2    NR1F1    NR1I3    ESR1    THRB
    HNF4alpha    RXRB    NR1I1    BCOR-RARA    DKFZp686P04237    NR1i1

    Find genes that share paralogs with NR1H2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NR1H2 (see all 334)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs354635551,2
    C,F--47215814(+) CCAACG/ACTCAT 2 -- us2k110Minor allele frequency- A:0.28NA WA CSA EA 371
    rs1413861711,2
    C--47215911(+) AGAAGA/CGCATG 2 -- us2k10--------
    rs563208151,2
    C,F--47215958(+) CACATA/TTGTCA 2 -- us2k12Minor allele frequency- T:0.10WA 120
    rs1451570791,2
    --47216027(+) GACCTA/CCTGGG 2 -- us2k10--------
    rs1827718941,2
    --47216293(+) GCAACG/TTCAGG 2 -- us2k10--------
    rs792330361,2
    --47216305(+) AGTTCC/TCCTAT 2 -- us2k10--------
    rs1468619261,2
    --47216397(+) GTTTAC/GTATAT 2 -- us2k10--------
    rs1149569951,2
    C,F--47216398(+) TTTAGT/CATATA 2 -- us2k11Minor allele frequency- C:0.08WA 118
    rs1489750801,2
    C--47216485(+) TCCTTC/TATTTT 2 -- us2k10--------
    rs1430967201,2
    C--47216530(+) TTGTTA/GCCCAG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for NR1H2 (50832910 - 50886267 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for NR1H2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv912281CNV Loss21882294
    dgv3976n71CNV Loss21882294
    nsv912282CNV Loss21882294

    Human Gene Mutation Database (HGMD): NR1H2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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

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    OMIM gene information: 600380    OMIM disorders: --

    11 diseases for NR1H2:    
    About MalaCards
    complete androgen insensitivity syndrome    seborrheic keratosis    biliary tract disease    androgen insensitivity syndrome
    thyroid hormone resistance syndrome    cerebrotendinous xanthomatosis    dosage-sensitive sex reversal    acth-secreting pituitary adenoma
    diabetes, type 2    atherosclerosis    breast cancer


    Find genes that share disorders with NR1H2           About GenesLikeMe

    Selected Novoseek inferred 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)

    Genetic Association Database (GAD): NR1H2
    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)
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    PubMed articles for NR1H2 gene, integrated from 10 sources (see all 2294):
    (articles sorted by number of sources associating them with NR1H2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Functional and genetic analysis in type 2 diabetes of liver X receptor alleles--a cohort study. (PubMed id 19292929)1, 4, 9 Dahlman I....Steffensen K.R. (BMC Med. Genet. 2009)
    2. Gene-gene interaction between heme oxygenase-1 and liver X receptor-beta and Alzheimer's disease risk. (PubMed id 18597895)1, 4, 9 Infante J....Combarros O. (Neurobiol. Aging 2010)
    3. No association of genetic variants of liver X receptor-beta with Alzheimer's disease risk. (PubMed id 18081155)1, 4, 9 RodrA-guez-RodrA-guez E....Combarros O. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008)
    4. 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. (J. Biol. Chem. 2003)
    5. Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease. (PubMed id 20855565)1, 4 Peloso G.M....Brousseau M.E. (J. Lipid Res. 2010)
    6. Suggestive evidence of associations between liver X receptor I^ polymorphisms with type 2 diabetes mellitus and obesity in three cohort studies: HUNT2 (Norway), MONICA (France) and HELENA (Europe). (PubMed id 20939869)1, 4 Solaas K....Nebb H.I. (BMC Med. Genet. 2010)
    7. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    8. Integrative predictive model of coronary artery calcification in atherosclerosis. (PubMed id 19948975)1, 4 McGeachie M....Ramoni M.F. (Circulation 2009)
    9. Interaction between CD14 and LXRbeta genes modulates Alzheimer's disease risk. (PubMed id 17900622)1, 4 RodrA-guez-RodrA-guez E....Combarros O. (J. Neurol. Sci. 2008)
    10. Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma. (PubMed id 18636124)1, 4 Skibola C.F....Smith M.T. (PLoS ONE 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 7376 HGNC: 7965 AceView: NR1H2 Ensembl:ENSG00000131408 euGenes: HUgn7376
    ECgene: NR1H2 H-InvDB: NR1H2

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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