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NR1H4 Gene

protein-coding   GIFtS: 60

GC12P100850
nuclear receptor subfamily 1, group H, member 4
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases & Descriptions
nuclear receptor subfamily 1, group H, member 41 2     Farnesoid X-activated receptor2 3
RIP141 2 3     BAR2 3
HRR11 2 3     RXR-interacting protein 142 3
FXR1 2 3     MGC1634452
HRR-11 2     bile acid receptor2
Retinoid X receptor-interacting protein 142 3     farnesoid X receptor2
Farnesol receptor HRR-12 3     Nuclear receptor subfamily 1 group H member 43

External Ids:    HGNC: 79671   Entrez Gene: 99712   Ensembl: ENSG000000125047   UniProtKB: Q96RI13   

Search outside databases for aliases for NR1H4 gene

Previous GC identifers: GC12P100078 GC12P099370

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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UniProtKB/Swiss-Prot: NR1H4_HUMAN, Q96RI1
Function: Receptor for bile acids such as chenodeoxycholic acid, lithocholic acid and deoxycholic acid. Represses the
transcription of the cholesterol 7-alpha-hydroxylase gene (CYP7A1) through the induction of NR0B2 or FGF19 expression,
via two distinct mechanisms. Activates the intestinal bile acid-binding protein (IBABP). Activates the transcription
of bile salt export pump ABCB11 by directly recruiting histone methyltransferase CARM1 to this locus

"" summary for NR1H4:
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 NR1H4 (Farnesoid X receptor)
(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC and Ensembl (release 56), Regulatory elements and Epigenetics data according to SABiosciences)
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Regulatory elements:
"" SABiosciences Regulatory transcription factor binding sites in the NR1H4 gene upstream (promoter) region "":
NRSF form 1   NRSF form 2   HNF-4alpha2   COUP-TF1   SREBP-1a   SREBP-1c   SREBP-1b   FOXO1a   PPAR-gamma2   PPAR-gamma1   

Epigenetics:
"" Search SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for NR1H4 ""

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

Entrez Gene cytogenetic band: 12q23.1   Ensembl cytogenetic band:  12q23.1   HGNC cytogenetic band: 12q23.1

NR1H4 Gene in genomic location: bands according to Ensembl, locations according to "" (and/or Entrez Gene and/or Ensembl if different)
""

GeneLoc gene densities for chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P100850:  view genomic region     (about GC identifiers)

Start:
100,867,679 bp from pter
End:
100,957,643 bp from pter
Size:
89,965 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000012.11  NT_029419.12  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene, Novus Biologicals, and/or Sino Biological,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 May 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abnova, OriGene, Novus Biologicals, and/or Epitomics)
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UniProtKB/Swiss-Prot: NR1H4_HUMAN, Q96RI1 (See protein sequence)
Recommended Name: Bile acid receptor  
Size: 486 amino acids; 55914 Da
Subunit: Heterodimer of NR1H4 and RXR. Interacts with CARM1 and SMARD1
Subcellular location: Nucleus (Probable)
PDB structures from "" and Proteopedia "" :
1OSH (3D) ""    1OSK (3D) ""    3BEJ (3D) ""    3DCT (3D) ""    3DCU (3D) ""    3FLI (3D) ""    3FXV (3D) ""    3GD2 (3D) ""    
3HC5 (3D) ""    3HC6 (3D) ""    
Secondary accessions: A1L4K5 B7Z412 Q8NFP5 Q8NFP6 Q92943
Alternative splicing: 4 isoforms:  Q96RI1-3   Q96RI1-4   Q96RI1-1   Q96RI1-2   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_005114.1  

    ENSEMBL proteins: 
    ENSP00000376712 ENSP00000315442 ENSP00000188403 


    Human Recombinant Proteins 
    ""Browse Purified and Recombinant Proteins at Millipore
    ""Browse Human Recombinant Proteins at Sigma-Aldrich
    "" Browse R&D Systems for human recombinant proteins
    ""Enzo Life Sciences proteins for NR1H4
    ""HuPro® and/or Recombinant Proteins from Abnova for NR1H4 ""
    ""Browse Origene full length recombinant human proteins expressed in human HEK293 cells
    ""Novus Biologicals Protein for NR1H4  ""
    Novus Biologicals Lysate for NR1H4
    ""Browse Sino Biological Recombinant Proteins  ""

    1 Gene Ontology (GO) cellular component term (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IEA--
    About this table

    "" NR1H4 for ontologies           About GeneDecksing



    Antibodies for NR1H4: 
    ""Millipore Mono- and Polyclonal Antibodies for the study of NR1H4
    ""Sigma-Aldrich Antibodies for NR1H4
    ""R&D Systems Antibodies for NR1H4 (FXR/NR1H4)
    ""Monoclonal and Polyclonal Antibodies from Abnova (NR1H4)
    "" Origene Antibodies: NR1H4 ""
    ""Novus Biologicals Antibodies for NR1H4
    ""Browse antibodies at Epitomics

    Assays for NR1H4: 
    ""Browse Kits and Assays available from Millipore
    ""Browse ELISAs at Sigma-Aldrich
    "" Browse R&D Systems for biochemical assays
    ""Enzo Life Sciences assays for NR1H4

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    "" NR1H4 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6 ):
     IPR013088 Znf_NHR/GATA
     IPR008946 Nucl_hormone_rcpt_ligand-bd
     IPR000536 Nucl_hrmn_rcpt_lig-bd_core
     IPR001628 Znf_hrmn_rcpt
     IPR001723 Str_hrmn_rcpt

    Graphical View of Domain Structure for InterPro Entry Q96RI1

    ProtoNet protein and cluster: Q96RI1

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


    UniProtKB/Swiss-Prot: NR1H4_HUMAN, Q96RI1
    Similarity: Belongs to the nuclear hormone receptor family. NR1 subfamily
    Similarity: Contains 1 nuclear receptor DNA-binding domain

    (According to MGI May 08 2010, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, Abnova, siRNAs from Applied Biosystems, Sigma-Aldrich, Clones from Millipore, Sigma-Aldrich, OriGene, Sino Biological, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene.)
    About This Section

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    Inhib.
    RNA:
    ""Browse for Gene Knock-down Tools from Millipore
    ""Abnova Chimera RNAi Products for Gene knock-down (NR1H4)
    "" Origene 29mer shRNA kits in GFP-retroviral vector: NR1H4
    Origene shRNA RFP: NR1H4
    Origene basic RS shRNA: NR1H4

    ""Applied Biosystems Silencer® siRNAs for NR1H4
    ""Sigma-Aldrich siRNA Panels and siRNA for NR1H4
    Sigma-Aldrich shRNA Panels and shRNA for NR1H4
    Explore Sigma-Aldrich super-pooled esiRNAs
    Clones:""Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    ""Browse iPSC Reprogramming Factors at Sigma-Aldrich
    "" Origene GFP tagged cDNA clones in CMV expression vector: NR1H4
    Origene Myc/DDK tagged cDNA clones in CMV expression vector: NR1H4
    Origene untagged cDNA clones in CMV expression vector: NR1H4
    ""Browse Sino Biological Human cDNA Clones  ""

    UniProtKB/Swiss-Prot: NR1H4_HUMAN, Q96RI1
    Function: Receptor for bile acids such as chenodeoxycholic acid, lithocholic acid and deoxycholic acid. Represses the
    transcription of the cholesterol 7-alpha-hydroxylase gene (CYP7A1) through the induction of NR0B2 or FGF19 expression,
    via two distinct mechanisms. Activates the intestinal bile acid-binding protein (IBABP). Activates the transcription
    of bile salt export pump ABCB11 by directly recruiting histone methyltransferase CARM1 to this locus

    5/14 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 14 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003690 double-stranded DNA binding IEA--
    GO:0003700 transcription factor activity IEA--
    GO:0003707 steroid hormone receptor activity IEA--
    GO:0003713 transcription coactivator activity TAS10334992
    GO:0003714 transcription corepressor activity TAS10334992
    About this table

    "" NR1H4 for ontologies           About GeneDecksing

    Animal Models: 5 MGI mutant phenotypes (inferred from 6 alleles""(MGI details for Nr1h4):

    growth/sizehomeostasis/metabolismlife span-post-weaning/agingliver/biliary systemno phenotypic analysis

    "" NR1H4 for phenotypes           About GeneDecksing

    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, Applied Biosystems GeneAssist, KEGG and/or UniProtKB, (map by GeneGo),
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene).
    About This Section

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    "" NR1H4 for pathways           About GeneDecksing

    1 "" Millipore Pathway for NR1H4
      ""  Selected targets of HNF1

    4 "" Sigma-Aldrich "Your Favorite Gene" Pathways for  NR1H4  (Your Favorite Gene powered by Ingenuity)
      ""  LXR/RXR Activation
    FXR/RXR Activation
    Hepatic Cholestasis
    LPS/IL-1 Mediated Inhibition of RXR Function

    "" SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NR1H4

    5/35 Interacting proteins for NR1H4 (ENSP000001884033 Q96RI11) via UniProtKB, MINT, and/or STRING (see all 35 ""
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ESR1P033721EBI-1250177,EBI-78473
    GRB2P629931EBI-1250177,EBI-401755
    SMARCD1Q96GM51EBI-1250177,EBI-358489
    MED1ENSP000003006513STRING: ENSP00000300651
    NCOR1ENSP000002687123STRING: ENSP00000268712
    About this table

    5/9 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 9 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006109 regulation of carbohydrate metabolic process IEA--
    GO:0006355 regulation of transcription, DNA-dependent IEA--
    GO:0007165 signal transduction TAS10334993
    GO:0008206 bile acid metabolic process IEA--
    About this table

    "" NR1H4 for ontologies           About GeneDecksing


    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

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    "" NR1H4 for compounds           About GeneDecksing

    "" Enzo Life Sciences drugs & compounds for NR1H4
    ""Browse Small Molecules at Sigma-Aldrich

    "" Compounds for NR1H4 available from Tocris Bioscience
    CompoundAction CAS number
    GW 4064Selective farnesoid X receptor (FXR) agonist[278779-30-9]
    FexaraminePotent, selective farnesoid X receptor (FXR) agonist[574013-66-4]
    About this table


    10/173 ""Novoseek chemical compound relationships for NR1H4 gene (see all 173 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    guggulsterone 100.00 47 12525500 (7), 17135343 (5), 12705905 (4), 11988537 (3) (see all 27)
    gw 4064 100.00 66 15817812 (3), 12052824 (3), 19228886 (2), 18436567 (2) (see all 52)
    cholic acid 100.00 86 16002565 (6), 16357057 (5), 14684751 (5), 12004058 (5) (see all 49)
    chenodeoxycholic acid 100.00 93 16946559 (6), 19913492 (4), 18510855 (3), 13130122 (3) (see all 66)
    androstane 67.44 33 19300246 (2), 12923173 (2), 20048746 (1), 19932133 (1) (see all 31)
    cholesterol 64.36 197 12421815 (7), 12897188 (5), 19136377 (4), 15962294 (4) (see all 100)
    6-ethylchenodeoxycholic acid 44.62 15 15644430 (3), 12166927 (2), 19864602 (1), 19783811 (1) (see all 12)
    lithocholic acid 18.45 14 12052824 (5), 16946559 (2), 16178789 (2), 19646460 (1) (see all 8)
    androsterone 15.99 12 16675527 (7), 19620049 (2), 17988216 (1), 17289849 (1) (see all 5)
    deoxycholic acid 13.20 12 12401785 (4), 15591588 (2), 19931294 (1), 18510604 (1) (see all 8)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 223 Homo sapiens; Apr 2 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Primers from OriGene and/or SABiosciences,
    Expression Assays from Applied Biosystems)
    About This Section

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    Inhib.
    RNA:
    ""Browse for Gene Knock-down Tools from Millipore
    ""Abnova Chimera RNAi Products for Gene knock-down (NR1H4)
    ""Applied Biosystems Silencer® siRNAs:  NM_005123  
    "" Origene 29mer shRNA kits in GFP-retroviral vector: NR1H4
    Origene shRNA RFP: NR1H4
    Origene basic RS shRNA: NR1H4

    ""Sigma-Aldrich siRNA Panels and siRNA for NR1H4
    Sigma-Aldrich shRNA Panels and shRNA for NR1H4
    Explore Sigma-Aldrich super-pooled esiRNAs

    microRNA:""Search SABiosciences for microRNAs that regulate NR1H4: ""
    Assays:  ""Applied Biosystems TaqMan® Gene Expression Assays:  
    NM_005123  


    Clones:"" Origene GFP tagged cDNA clones in CMV expression vector: NR1H4
    Origene Myc/DDK tagged cDNA clones in CMV expression vector: NR1H4
    Origene untagged cDNA clones in CMV expression vector: NR1H4
    Primers:"" Origene genome-wide validated SYBR primer pairs: NR1H4
    ""SABiosciences RT2 qPCR Primer Assay for NR1H4: PPH05878A ""

    REFSEQ mRNAs for NR1H4 gene: 

    NM_005123.2  

    Additional cDNA sequence: 

    AB307699.1 AF384555.1 AF478445.1 AF478446.1 AK296612.1 AK296647.1 AK312959.1 BC035654.1 
    BC071778.1 BC130573.1 BC144183.1 BC144184.1 BC144187.1 BX571749.1 U68233.1 

    7 DOTS entries:

    DT.213616  DT.100021403  DT.100746912  DT.444293  DT.40229020  DT.402350  DT.91756518 

    24/60 AceView cDNA sequences (see all 60 ):

    AF478446 AI075131 AU104249 AA912967 AF478445 AI051958 BC071778 BX102734 
    BX571749 AI628645 BC035654 AF384555 AI245366 CB162215 BM545805 R92996 
    AA682292 T89438 AU099106 AI809578 NM_005123 AA862482 U68233 H79617 

    "" highest scoring ESTs for NR1H4:

    U68233 AA682292 AA902549 AF384555 AF478445 AF478446 AI023303 AI075131 AI190683 AI244191 

    Unigene Cluster for NR1H4:

    Nuclear receptor subfamily 1, group H, member 4
    Hs.282735  [show with all ESTs]
    Unigene Representative Sequence: BC035654


    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for NR1H4 (see all 7 )

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
    SP1:                          -           -                       -     -                 -                                             
    SP2:                                                              -     -                                                               
    SP3:                                                                    -                 -                                             
    SP4:                                                                    -                                                               
    SP5:                                                                                                                                    

    About this scheme

    ECgene alternative splicing isoforms for NR1H4

    3 Ensembl transcripts including schematic representations:
    ENST00000392986  ENST00000321046  ENST00000188403  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 223 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems, Primers from OriGene and/or SABiosciences )
    About This Section

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    NR1H4 expression in normal and diseased human tissues

    "" Applied Biosystems TaqMan ® Gene Expression Assays for NR1H4

    1""  / 2""  / 3""

    4 probe-sets matching NR1H4 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    38519_at2, 3 U95-A 1 0.81 1.00 1.00 1.00 U68233 1.00 1.00 1.00 1
    206340_at2, 3 U133-A 1 0.91 1.00 -- -- NM_005123 0.60 1.00 0.82 1
    1554375_a_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    206340_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    About this table

    "" NR1H4 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.282735

    Expression variation in blood from EXPOLDB for NR1H4

    Primers:"" Origene genome-wide validated SYBR primer pairs: NR1H4 ""
    ""SABiosciences RT2 qPCR Primer Assay for NR1H4: PPH05878A ""
    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI May 08 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

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    Orthologs for NR1H4 gene from 5/10 species (see all 10 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    NR1H41   -- nuclear receptor subfamily 1, group H, member 4 90.6(n)
    94.02(a)
    612928  XM_847866.1  XP_852959.1 
    chimpanzee
    (Pan troglodytes)
    NR1H41   -- nuclear receptor subfamily 1, group H, member 4 99.58(n)
    99.79(a)
    452162  XM_001153645.1  XP_001153645.1 
    cow
    (Bos taurus)
    NR1H41   -- nuclear receptor subfamily 1, group H, member 4 92.15(n)
    94.84(a)
    540528  NM_001034708.1  NP_001029880.1 
    rat
    (Rattus norvegicus)
    Nr1h41   -- nuclear receptor subfamily 1, group H, member 4 85.4(n)
    92.52(a)
    60351  NM_021745.1  NP_068513.1 
    mouse
    (Mus musculus)
    Nr1h41, 5 10 (50.00 cM)5
    nuclear receptor subfamily 1, group H, member 41, 5 86.55(n)1
    94.17(a)1
    201861  NM_009108.11  NP_033134.11 
     AI9573605  AK0025135  (see all 10)
    About this table        Species with no ortholog for NR1H4

    ENSEMBL Gene Tree for NR1H4
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

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    Paralogs for NR1H4 gene
    VDR2  PPARD2  NR1I22  RARG2  PPARA2  THRB2  RARA2  RARB2  
    NR1D22  RORA2  RORB2  RORC2  NR1D12  NR1I32  PPARG2  NR1H22  
    THRA2  NR1H32  

    "" NR1H4 for paralogs           About GeneDecksing


    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Genotyping Reagents from Applied Biosystems)
    About This Section

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    10/586 NCBI SNPs in NR1H4 are shown (see all 586 )
    (Click "" for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 130)
    ABGenomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 12 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    ""
    rs37621091,2
    C,F,A,H97927089(-) ACGCAA/GTCAAT 1 -- ng51 tfbs3""5Minor allele frequency- G:0.06NS NA 372""
    --
    rs37621081,2
    C,F,A,H97927238(-) CTTAAA/CTCCTC 1 -- ng51""9Minor allele frequency- C:0.27EA NS NA WA 642""
    ""
    rs38633771,2
    F,A,H97927423(-) TCTCCC/TGCCTC 1 -- ng51""2Minor allele frequency- T:0.03NS 218""
    ""
    rs561638221,2
    C,F100887101(+) ATTTGG/TATGGG 1 -- ut51""2Minor allele frequency- T:0.06EA 446""
    ""
    rs170301861,2
    C,F97927111(+) TACACA/GATGCT 1 -- ng51 tfbs3""5Minor allele frequency- G:0.07NA NS 370""
    --
    rs285079091,2
    C,F97927007(+) TCACAT/CACACA 1 -- ng51""2Minor allele frequency- C:0.16NA EA 160""
    ""
    rs285413741,2
    C,F97928237(+) CTTTCA/GAAGGC 1 -- ng51 tfbs3""1Minor allele frequency- G:0.20WA 50""
    --
    rs116084381,2
    H100887142(+) TTTACC/ATACCA 2 /H /P mis1 ref1 ese3""4Minor allele frequency- A:0.00NS EA 404""
    --
    rs562764831,2
    C100867744(+) TGAGCA/CTTTGT 1 -- ut51""0--------
    --
    rs800808181,2
    F97927035(+) ACACAG/CGTGCA 1 -- ng51""2Minor allele frequency- C:0.02NA EA 160""
    About this table

    HapMap Linkage Disequilibrium images for NR1H4 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)  ""
    Database of Genomic Variants (DGV): 1 variation for NR1H4
         1 CNV: 38276

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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    "" NR1H4 for disorders           About GeneDecksing

    OMIM: 603826

    10/107 ""Novoseek disease relationships for NR1H4 gene (see all 107 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    familial intrahepatic cholestasis 53.94 26 18668687 (8), 14988830 (7), 19381753 (5), 19809379 (3) (see all 6)
    cholestasis 28.88 33 16844773 (4), 18327154 (3), 15644430 (3), 19300246 (2) (see all 20)
    cholesterol gallstones 16.71 13 15962294 (3), 15558057 (3), 15882126 (2), 17931734 (1) (see all 8)
    fibrosis liver 6.26 12 19910507 (5), 15980055 (3), 15521018 (3), 15860571 (1)
    cholestasis intrahepatic 5.82 6 18510855 (2), 19490418 (1), 17681172 (1), 14623915 (1) (see all 5)
    disorder; metabolic 4.50 10 19883617 (4), 18023284 (2), 19187229 (1), 18825165 (1) (see all 6)
    cerebrotendinous xanthomatosis 4.47 4 15576845 (4)
    barrett esophagus 4.26 10 18510604 (5), 17054793 (5)
    non-alcoholic steatohepatitis 4.04 6 19195631 (3), 19501927 (2), 17588816 (1)
    leydig cell tumor 3.55 4 20026603 (4)
    About this table

    Human Gene Mutation Database: NR1H4
    Human Genome Epidemiology Navigator: NR1H4 (11 documents)

    (Possibly Related Articles in Doctor's Guide)
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    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
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    100/385 PubMed articles for NR1H4 gene (see all 385 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Search String
    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: 9971 HGNC: 7967 AceView: NR1H4 Ensembl:ENSG00000012504 euGenes: HUgn9971
    ECgene: NR1H4 H-InvDB: NR1H4
    (According to HUGE)
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      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    NameDescription
    Wikipedia http://en.wikipedia.org/wiki/Farnesoid_X_receptor
    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
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    Patent Information for NR1H4 gene: ""
    Search GeneIP for patents involving NR1H4

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


    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Novus Biologicals,
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