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

NR0B2 Gene

protein-coding   GIFtS: 65
GCID: GC01M027237

Nuclear Receptor Subfamily 0, Group B, Member 2

  See 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)
About This Section

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

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, and among its related super-pathways are Gene Expression and Nuclear Receptors. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_004610.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for NR0B2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Nucleus. Cytoplasm. Note=Colocalizes with NEUROD1 in the nucleus
4 PDB 3D structures from and Proteopedia for NR0B2:
1YUC (3D)        2Q3Y (3D)        2Z4J (3D)        4DOR (3D)    
Secondary accessions: Q5QP36

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

Explore proteomics data for NR0B2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q15466

  • NR0B2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NR0B2 Protein Expression
    REFSEQ proteins: NP_068804.1  
    ENSEMBL proteins: 
     ENSP00000254227  
    Reactome Protein details: Q15466
    Human Recombinant Protein Products for NR0B2: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for NR0B2
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    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. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    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



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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
     IPR001723 Str_hrmn_rcpt
     IPR000536 Nucl_hrmn_rcpt_lig-bd_core

    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/13 molecular function terms (GO ID links to tree view) (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  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 - Custom generated mouse model solutions for NR0B2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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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    6 QIAGEN miScript miRNA 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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    Gene Editing
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    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
    Sirion Biotech Customized lentivirus for stable overexpression of NR0B2 
                         Customized lentivirus expression plasmids for stable overexpression of NR0B2 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NR0B2


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

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

    SuperPathContained pathways About
    1Generic Transcription Pathway
    Gene Expression0.47
    Generic Transcription Pathway0.47
    2Nuclear Receptor transcription pathway
    Nuclear Receptor transcription pathway0.68
    3Development Ligand-independent activation of ESR1 and ESR2
    Transcription PPAR Pathway0.35
    4Toll-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 EMD Millipore Pathway for NR0B2
        Transcription PPAR Pathway

    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


    3        Reactome Pathways for NR0B2
        Generic Transcription Pathway
    Nuclear Receptor transcription pathway
    Gene Expression


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


    NR0B2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NR0B2

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

    5/93 Interacting proteins for NR0B2 (Q154661, 2, 3 ENSP000002542274) via UniProtKB, MINT, STRING, and/or I2D (see all 93)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SIRT1Q96EB61, 3, ENSP000002120154EBI-3910729,EBI-1802965 I2D: score=2 STRING: ENSP00000212015
    RXRBP287023, ENSP000003638124I2D: score=1 STRING: ENSP00000363812
    ENSG00000206289P287023I2D: score=1 
    ENSG00000227322P287023I2D: score=1 
    ENSG00000228333P287023I2D: score=1 
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (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-dependent ----
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--
    GO:0008203cholesterol metabolic process TAS11030331
    GO:0009749response to glucose stimulus IEA--

    NR0B2 for ontologies           About GeneDecksing



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

    NR0B2 for compounds           About GeneDecksing

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

    Browse Tocris compounds for NR0B2

    10/13 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)

    Search CenterWatch for drugs/clinical trials and news about NR0B2

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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)
    miRNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NR0B2
      QIAGEN 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 

    24/39 AceView cDNA sequences (see all 39):

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

    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™, 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

    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


    See NR0B2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NR0B2

    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

        SABiosciences Expression via Pathway-Focused 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

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    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for NR0B2 gene from 4/10 species (see all 10)    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)
    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)
    About This Section
    Paralogs for NR0B2 gene
    NR0B12  
    1 SIMAP similar gene for NR0B2 using alignment to 2 protein entries:     NR0B2_HUMAN (see all proteins):
    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) 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

    10/152 SNPs in NR0B2 are shown (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
    VAR_0260174
    ----see VAR_0260172 A S mis40--------
    VAR_0260154
    ----see VAR_0260152 R W mis40--------
    VAR_0260184
    ----see VAR_0260182 R C mis40--------
    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--------

    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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing NR0B2
    DNA2.0 Custom Variant and Variant Library Synthesis for NR0B2

    (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.)
    About This Section
    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

  • 20/27 diseases for NR0B2 (see all 27):    About MalaCards
    trichosporonosis    obesity, mild, early-onset    hemopneumothorax    hepatopulmonary syndrome
    severe congenital neutropenia    obesity, association with    neutropenia    anaplastic large cell lymphoma
    cholestasis    obesity    duodenitis    thyroiditis
    purpura    insulin resistance    myelodysplastic syndromes    hepatitis b
    liver disease    cervical cancer    cervicitis    gastric cancer

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

    NR0B2 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for NR0B2 gene, integrated from 9 sources (see all 171):
    (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. (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. (1998)
    3. Mutation analysis of NR0B2 among 1545 Danish men identifies a novel c.278G>A (p.G93D) variant with reduced functional activity. (PubMed id 15459958)1, 4, 9 Echwald S.M....Pedersen O. (2004)
    4. Genetic Risk Factors for Hepatopulmonary Syndrome in Patients With Advanced Liver Disease. (PubMed id 20346360)1, 4 Roberts K.E....Fallon M.B. (2010)
    5. 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. (2010)
    6. Severe obesity is associated with novel single nucleo tide polymorphisms of the ESR1 and PPARgamma locus in Han Chinese. (PubMed id 19491387)1, 4 Chen H.H....Pan W.H. (2009)
    7. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (2008)
    8. 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. (2008)
    9. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    10. Modulation of human nuclear receptor LRH-1 activity by phospholipids and SHP. (PubMed id 15723037)1, 2 Ortlund E.A....Redinbo M.R. (2005)

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

    (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 NR0B2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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