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NR0B2 Gene

protein-coding   GIFtS: 65
GCID: GC01M027237

Nuclear Receptor Subfamily 0, Group B, Member 2

Pneumococci & Pneumococcal Diseases Congress
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(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 0, Group B, Member 21 2     SHP12
SHP2 3 5     Nuclear Receptor SHP2
Orphan Nuclear Receptor SHP2 3     Nuclear Receptor Subfamily 0 Group B Member 22
Small Heterodimer Partner2 3     

External Ids:    HGNC: 79611   Entrez Gene: 84312   Ensembl: ENSG000001319107   OMIM: 6046305   UniProtKB: Q154663   

Export aliases for NR0B2 gene to outside databases

Previous GC identifers: GC01P028351 GC01M026270 GC01M026471 GC01M026842 GC01M026922 GC01M027110 GC01M025491


(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 NR0B2 Gene:
The protein encoded by this gene is an unusual orphan receptor that contains a putative ligand-binding domain but
lacks a conventional DNA-binding domain. The gene product is a member of the nuclear hormone receptor family, a
group of transcription factors regulated by small hydrophobic hormones, a subset of which do not have known
ligands and are referred to as orphan nuclear receptors. The protein has been shown to interact with retinoid and
thyroid hormone receptors, inhibiting their ligand-dependent transcriptional activation. In addition, interaction
with estrogen receptors has been demonstrated, leading to inhibition of function. Studies suggest that the
protein represses nuclear hormone receptor-mediated transactivation via two separate steps: competition with
coactivators and the direct effects of its transcriptional repressor function. (provided by RefSeq, Jul 2008)

GeneCards Summary for NR0B2 Gene:
NR0B2 (nuclear receptor subfamily 0, group B, member 2) is a protein-coding gene. Diseases associated with NR0B2 include trichosporonosis, and obesity, mild, early-onset. GO annotations related to this gene include transcription corepressor activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is NR0B1.

UniProtKB/Swiss-Prot: NR0B2_HUMAN, Q15466
Function: Acts as a transcriptional regulator. Acts as a negative regulator of receptor-dependent signaling
pathways. Specifically inhibits transactivation of the nuclear receptor with whom it interacts. Inhibits
transcriptional activity of NEUROD1 on E-box-containing promoter by interfering with the coactivation function of
the p300/CBP-mediated trancription complex for NEUROD1

Gene Wiki entry for NR0B2 (Small heterodimer partner) 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:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the NR0B2 gene promoter:
         AhR   Lmo2   Arnt   C/EBPalpha   CHOP-10   PPAR-gamma1   STAT3   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNR0B2 promoter sequence
   Search Chromatin IP Primers for NR0B2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NR0B2


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

Entrez Gene cytogenetic band: 1p36.1   Ensembl cytogenetic band:  1p36.11   HGNC cytogenetic band: 1p36.1

NR0B2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NR0B2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M027237:  view genomic region     (about GC identifiers)

Start:
27,237,975 bp from pter      End:
27,240,567 bp from pter
Size:
2,593 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NR0B2_HUMAN, Q15466 (See protein sequence)
Recommended Name: Nuclear receptor subfamily 0 group B member 2  
Size: 257 amino acids; 28058 Da
Subunit: Interacts with RARA, RXRA, THRB, NR5A1, NR5A2, NR1I3, PPARA, PPARG and EID1. May also interact with HNF4A
(By similarity). Heterodimer; efficient DNA binding requires dimerization with another bHLH protein. Interacts
(via N-terminus) with NEUROD1 (via N-terminus an C-terminus). Interacts with ID2
4 PDB 3D structures from and Proteopedia for NR0B2:
1YUC (3D)        2Q3Y (3D)        2Z4J (3D)        4DOR (3D)    
Secondary accessions: F1D8P5 Q5QP36

Explore the universe of human proteins at neXtProt for NR0B2: NX_Q15466

Explore proteomics data for NR0B2 at MOPED

Post-translational modifications: 

  • Arginine methylation by PRMT5 enhances repression activity of metabolic genes in liver in response to bile acid
    signaling, by increasing interaction with cofactors (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NR0B2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_068804.1  
    ENSEMBL proteins: 
     ENSP00000254227  
    Reactome Protein details: Q15466

    NR0B2 Human Recombinant Protein Products:

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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for NR0B2
    OriGene Protein Over-expression Lysate for NR0B2
    OriGene Custom MassSpec
    OriGene Custom Protein Services for NR0B2
    GenScript Custom Purified and Recombinant Proteins Services for NR0B2
    Novus Biologicals NR0B2 Protein
    Novus Biologicals NR0B2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    NR0B2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for NR0B2 (SHP/NR0B2, SHP-1)
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    Novus Biologicals NR0B2 Antibodies
    Abcam antibodies for NR0B2
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for NR0B2
    LSBio Antibodies in human, mouse, rat for NR0B2

    NR0B2 Assay Products:

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    GenScript Custom Assay Services for NR0B2
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (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: SHP
    0B. DAX-like receptors

    3 InterPro protein domains:
     IPR008946 Nucl_hormone_rcpt_ligand-bd
     IPR000536 Nucl_hrmn_rcpt_lig-bd_core
     IPR001723 Str_hrmn_rcpt

    Graphical View of Domain Structure for InterPro Entry Q15466

    ProtoNet protein and cluster: Q15466

    UniProtKB/Swiss-Prot: NR0B2_HUMAN, Q15466
    Similarity: Belongs to the nuclear hormone receptor family. NR0 subfamily


    NR0B2 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NR0B2_HUMAN, Q15466
    Function: Acts as a transcriptional regulator. Acts as a negative regulator of receptor-dependent signaling
    pathways. Specifically inhibits transactivation of the nuclear receptor with whom it interacts. Inhibits
    transcriptional activity of NEUROD1 on E-box-containing promoter by interfering with the coactivation function of
    the p300/CBP-mediated trancription complex for NEUROD1

         Genatlas biochemistry entry for NR0B2:
    orphan nuclear (steroid/thyroid/retinoid) receptor,subfamily 0,group B,member 2,orphan specifically expressed in
    fetal liver and adrenal gland,adult spleen and small intestine,heterodimerizing with many members of receptor
    superfamily including RARs,RRXs,small heterodimer partner interacting with PPARx,potential negative regulator of
    receptor dependent signaling pathways

         Gene Ontology (GO): Selected molecular function terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0003707steroid hormone receptor activity IEA--
    GO:0003714transcription corepressor activity IDA14752053
    GO:0005515protein binding IPI14752053
         
    NR0B2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for NR0B2:
     Decreased circadian period len  Decreased p24 protein expressi  Increased cell number in G2M,  

         7 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Nr0b2):
     digestive/alimentary  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism  liver/biliary system 
     normal  reproductive system 

    NR0B2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for NR0B2: Nr0b2tm1Rus Nr0b2tm1.1Mjev Nr0b2tm1.1Auw

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NR0B2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NR0B2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NR0B2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NR0B2

    miRNA
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    miRTarBase miRNAs that target NR0B2:
    hsa-mir-141-3p (MIRT006718), hsa-mir-24-3p (MIRT030414), hsa-mir-26b-5p (MIRT028990)

    Block miRNA regulation of human, mouse, rat NR0B2 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate NR0B2:
    hsa-miR-148b* hsa-miR-3194-5p hsa-miR-520d-5p hsa-miR-524-5p hsa-miR-556-3p hsa-miR-4277
    SwitchGear 3'UTR luciferase reporter plasmidNR0B2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NR0B2
    Predesigned siRNA for gene silencing in human, mouse, rat NR0B2

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for NR0B2

    Clone
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    OriGene clones in human, mouse for NR0B2 (see all 5)
    OriGene ORF clones in mouse, rat for NR0B2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NR0B2 (NM_021969)
    Sino Biological Human cDNA Clone for NR0B2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NR0B2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NR0B2

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for NR0B2
    Browse ESI BIO Cell Lines and PureStem Progenitors for NR0B2 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NR0B2


    (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
    NR0B2_HUMAN, Q15466: Nucleus. Cytoplasm. Note=Colocalizes with NEUROD1 in the nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    extracellular2
    cytosol1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA14752053
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IDA14752053
    GO:0043234protein complex IEA--

    NR0B2 for ontologies           About GeneDecksing


    (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 NR0B2 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Gene Expression
    Generic Transcription Pathway0.40
    Gene Expression0.40
    2Nuclear Receptor transcription pathway
    Nuclear Receptor transcription pathway0.67
    3Translation Insulin regulation of translation
    Transcription PPAR Pathway0.34
    4NOD-like Receptor Signaling Pathways
    Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways0.31
    5Bile secretion
    Bile secretion

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for NR0B2
        Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways


    1 GeneGo (Thomson Reuters) Pathway for NR0B2
        Transcription PPAR Pathway

    1 BioSystems Pathway for NR0B2
        Androgen receptor signaling pathway


    1 Reactome Pathway for NR0B2
        Nuclear Receptor transcription pathway


    1 Kegg Pathway  (Kegg details for NR0B2):
        Bile secretion


    NR0B2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NR0B2 (see all 6): 
              Estrogen Receptor Signaling in human mouse rat
              Lymphoma in human mouse rat
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Nuclear Receptors & Coregulators in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NR0B2

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

    Selected Interacting proteins for NR0B2 (Q154661, 2, 3 ENSP000002542274) via UniProtKB, MINT, STRING, and/or I2D (see all 95)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MDM2Q009871, 2, ENSP000004172814EBI-3910729,EBI-389668 MINT-8331170 MINT-8331189 MINT-8331139 MINT-8331155 STRING: ENSP00000417281
    TP53P046371, 2, ENSP000002693054EBI-3910729,EBI-366083 MINT-8331203 MINT-8331211 MINT-8339604 STRING: ENSP00000269305
    SIRT1Q96EB61, 3, ENSP000002120154EBI-3910729,EBI-1802965 I2D: score=2 STRING: ENSP00000212015
    RXRBP287023, ENSP000003638124I2D: score=1 STRING: ENSP00000363812
    ENSG00000206289P287023I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--
    GO:0008203cholesterol metabolic process TAS11030331
    GO:0009749response to glucose IEA--

    NR0B2 for ontologies           About GeneDecksing



    (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 

    Browse Tocris compounds for NR0B2

    Selected Novoseek inferred chemical compound relationships for NR0B2 gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gw 4064 75.6 3 15817812 (2), 16946559 (1)
    chenodeoxycholic acid 69.9 2 15817812 (1), 11518759 (1)
    phosphoenolpyruvate 61.5 3 12324453 (1), 18505831 (1)
    androstane 51.8 1 15858847 (1)
    tyrosine 46 19 10228003 (3), 18233962 (2), 10540344 (1), 10399074 (1) (see all 13)
    rifampicin 24.9 5 16455805 (2), 15670600 (1), 15331348 (1)
    cholesterol 20.5 2 15817812 (1), 11668176 (1)
    glucose 6.75 6 15525581 (2), 18505831 (2), 15047603 (1)
    adp 0.961 1 15525581 (1)
    lipid 0 1 12218363 (1)



    NR0B2 for compounds           About GeneDecksing



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NR0B2 gene: 
    NM_021969.2  

    Unigene Cluster for NR0B2:

    Nuclear receptor subfamily 0, group B, member 2
    Hs.427055  [show with all ESTs]
    Unigene Representative Sequence: NM_021969
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000254227(uc001bnf.3)

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    6 qRT-PCR Assays for microRNAs that regulate NR0B2:
    hsa-miR-148b* hsa-miR-3194-5p hsa-miR-520d-5p hsa-miR-524-5p hsa-miR-556-3p hsa-miR-4277
    SwitchGear 3'UTR luciferase reporter plasmidNR0B2 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: NR0B2 (NM_021969)
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for NR0B2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NR0B2
      QuantiTect SYBR Green Assays in human, mouse, rat NR0B2
      QuantiFast Probe-based Assays in human, mouse, rat NR0B2

    Additional mRNA sequence: 

    AK310048.1 BC030207.1 HQ692833.1 

    3 DOTS entries:

    DT.312369  DT.100020812  DT.102835732 

    Selected AceView cDNA sequences (see all 39):

    BI837687 BU156944 BQ645744 BM769196 BC030207 BQ648171 BQ650421 NM_021969 
    BX099712 AA872824 BQ082728 AI023792 AI801227 BI838435 BM751947 BQ645450 
    BQ084480 BM006232 AI767535 BQ652144 AI248510 AI457167 BI833566 W67564 

    GeneLoc Exon Structure


    (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)
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    NR0B2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTTGCTCA
    NR0B2 Expression
    About this image

    NR0B2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NR0B2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.427055

    UniProtKB/Swiss-Prot: NR0B2_HUMAN, Q15466
    Tissue specificity: Liver. Low levels of expression were detected in heart and pancreas

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NR0B2 (see all 6): 
              Estrogen Receptor Signaling in human mouse rat
              Lymphoma in human mouse rat
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Nuclear Receptors & Coregulators in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for NR0B2
    OriGene qSTAR qPCR primer pairs in human, mouse for NR0B2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NR0B2
    QuantiTect SYBR Green Assays in human, mouse, rat NR0B2
    QuantiFast Probe-based Assays in human, mouse, rat NR0B2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NR0B2

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for NR0B2 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nr0b21 , 5 nuclear receptor subfamily 0, group B, member 21, 5 80.93(n)1
    78.99(a)1
      4 (66.25 cM)5
    239571  NM_011850.21  NP_035980.11 
     1335533765 
    chicken
    (Gallus gallus)
    Aves NR0B21 nuclear receptor subfamily 0, group B, member 2 65.7(n)
    58.92(a)
      768353  NM_001030893.2  NP_001026064.2 
    lizard
    (Anolis carolinensis)
    Reptilia NR0B26
    nuclear receptor subfamily 0, group B, member 2
    35(a)
    1 ↔ 1
    1(199212287-199216609)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia nr0b21 nuclear receptor subfamily 0, group B, member 2 49.53(n)
    41.37(a)
      613046  XM_002936213.2  XP_002936259.2 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.115902 Danio rerio cDNA clone IMAGE3815490, partial cds 74.94(n)    BC058069.1 


    ENSEMBL Gene Tree for NR0B2 (if available)
    TreeFam Gene Tree for NR0B2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NR0B2 gene
    NR0B12  
    1 SIMAP similar gene for NR0B2 using alignment to 1 protein entry:     NR0B2_HUMAN:
    NR0B1

    NR0B2 for paralogs           About GeneDecksing



    (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 NR0B2 (see all 152)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs743153501,2
    Cpathogenic127456128(-) AGGAGG/TCTCAC 2 A S mis10--------
    rs743153491,2
    C,Fpathogenic127457933(-) TCCCCC/G/TGACCC 2 R * stg11NA 4332
    rs1121407401,2
    C--27241467(+) AAATATATATG/-
            
    TATAT
    1 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs127581171,2
    A--27241508(+) tatatG/Ttatat 1 -- us2k1 tfbs30--------
    rs127540451,2
    C--27241566(+) tatatA/Gtgtat 1 -- us2k12Minor allele frequency- G:0.00NA 4
    rs1477865401,2
    --27455276(+) TGTTTC/GAATTC 1 -- ds50010--------
    rs1415551611,2
    C--27455550(+) CTTCC-/AATATG 1 -- ds50010--------
    rs767401391,2
    C,F--27455641(+) TCGATA/GGGACT 1 -- ut311Minor allele frequency- G:0.06WA 118
    rs1999551131,2
    C--27455723(-) GGTGGC/TCNNNN 1 -- ut310--------
    rs75041,2
    C,F,A,H--27455751(+) CTGGAA/GCACTG 1 -- ut31 ese337Minor allele frequency- G:0.47MN WA NA EA CA CSAM NS 3886

    HapMap Linkage Disequilibrium report for NR0B2 (27237975 - 27240567 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for NR0B2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508689CNV Loss20534489
    nsv834524CNV Gain+Loss17160897

    Human Gene Mutation Database (HGMD): NR0B2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NR0B2
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604630   
    OMIM disorders: 601665  
    UniProtKB/Swiss-Prot: NR0B2_HUMAN, Q15466
  • Obesity (OBESITY) [MIM:601665]: A condition characterized by an increase of body weight beyond the
    limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat.
    Note=Disease susceptibility is associated with variations affecting the gene represented in this entry

  • Selected diseases for NR0B2 (see all 31):    About MalaCards
    trichosporonosis    obesity, mild, early-onset    hemopneumothorax    dosage-sensitive sex reversal
    severe congenital neutropenia    hepatopulmonary syndrome    obesity, association with    neutropenia
    cholestasis    obesity    anaplastic large cell lymphoma    thyroiditis
    purpura    duodenitis    insulin resistance    myelodysplastic syndromes
    hepatitis b    cervical cancer    liver disease    cervicitis

    1 disease from the University of Copenhagen DISEASES database for NR0B2:
    Cholestasis

    NR0B2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    5 Novoseek inferred disease relationships for NR0B2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cholestasis 46.2 1 17108234 (1)
    insulin resistance 0 1 11696534 (1)
    breast cancer 0 6 19460704 (2)
    tumors 0 2 18325392 (2)
    obesity 0 5 11136233 (2), 15459958 (2)

    Genetic Association Database (GAD): NR0B2
    Human Genome Epidemiology (HuGE) Navigator: NR0B2 (12 documents)

    Export disorders for NR0B2 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 NR0B2 gene, integrated from 10 sources (see all 175):
    (articles sorted by number of sources associating them with NR0B2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the small heterodimer partner gene are associated with mild obesity in Japanese subjects. (PubMed id 11136233)1, 2, 4, 9 Nishigori H.... Takeda J. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    2. Structure and expression of the orphan nuclear receptor SHP gene. (PubMed id 9603951)1, 2, 3, 9 Lee H.-K.... Choi H.-S. (J. Biol. Chem. 1998)
    3. Mutation analysis of NR0B2 among 1545 Danish men identifies a novel c.278G&gt;A (p.G93D) variant with reduced functional activity. (PubMed id 15459958)1, 4, 9 Echwald S.M....Pedersen O. (Hum. Mutat. 2004)
    4. Arginine methylation by PRMT5 at a naturally occurring mutation site is critical for liver metabolic regulation by small heterodimer partner. (PubMed id 21262773)1, 2 Kanamaluru D....Kemper J.K. (Mol. Cell. Biol. 2011)
    5. Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease. (PubMed id 20346360)1, 4 Roberts K.E....Fallon M.B. (Gastroenterology 2010)
    6. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (Hum. Genet. 2010)
    7. Severe obesity is associated with novel single nucleotide polymorphisms of the ESR1 and PPARgamma locus in Han Chinese. (PubMed id 19491387)1, 4 Chen H.H....Pan W.H. (Am. J. Clin. Nutr. 2009)
    8. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (J. Lipid Res. 2008)
    9. Mutations in the small heterodimer partner gene increase morbidity risk in Japanese type 2 diabetes patients. (PubMed id 18781616)1, 4 Enya M....Takeda J. (Hum. Mutat. 2008)
    10. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)

    (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: 8431 HGNC: 7961 AceView: NR0B2 Ensembl:ENSG00000131910 euGenes: HUgn8431
    ECgene: NR0B2 Kegg: 8431 H-InvDB: NR0B2

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for NR0B2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NR0B2 gene:
    Search GeneIP for patents involving NR0B2

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



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