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

NR5A2 Gene

protein-coding   GIFtS: 64
GCID: GC01P199996

Nuclear Receptor Subfamily 5, Group A, Member 2


(Previous symbol: FTF)
Microbiology & Infectious Diseases Congress
  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 5, Group A, Member 21 2     FTZ-F1beta2
FTF1 2 3 5     LRH12
Liver Receptor Homolog-11 2     B1-Binding Factor, Hepatocyte Transcription Factor Which Activates
Enhancer II Of Hepatitis B Virus2
Alpha-1-Fetoprotein Transcription Factor2 3     Fetoprotein-Alpha 1 (AFP) Transcription Factor2
Hepatocytic Transcription Factor2 3     hB1F-22
Liver Receptor Homolog 12 3     Liver Nuclear Receptor Homolog-1 Variant 22
B1F2 3     Nuclear Receptor NR5A22
CPF2 3     Nuclear Receptor Subfamily 5 Group A Member 22
LRH-12 3     B1-Binding Factor3
CYP7A Promoter-Binding Factor2 3     hB1F3
B1F22     HB1F5
FTZ-F12     

External Ids:    HGNC: 79841   Entrez Gene: 24942   Ensembl: ENSG000001168337   OMIM: 6044535   UniProtKB: O004823   

Export aliases for NR5A2 gene to outside databases

Previous GC identifers: GC01P197726 GC01P195455 GC01P196463 GC01P197285 GC01P196728 GC01P198263 GC01P171163


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

GeneCards Summary for NR5A2 Gene: 
NR5A2 (nuclear receptor subfamily 5, group A, member 2) is a protein-coding gene. Diseases associated with NR5A2 include dental caries, and hepatitis b, and among its related super-pathways are Nuclear Receptors and Regulation of beta-cell development. GO annotations related to this gene include phospholipid binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is RXRA.

UniProtKB/Swiss-Prot: NR5A2_HUMAN, O00482
Function: Binds to the sequence element 5'-AACGACCGACCTTGAG-3' of the enhancer II of hepatitis B virus genes, a
critical cis-element of their expression and regulation. May be responsible for the liver-specific activity of
enhancer II, probably in combination with other hepatocyte transcription factors. Key regulator of cholesterol
7-alpha-hydroxylase gene (CYP7A) expression in liver. May also contribute to the regulation of pancreas-specific
genes and play important roles in embryonic development

Gene Wiki entry for NR5A2 (Liver receptor homolog-1) 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  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NR5A2 gene promoter:
         C/EBPbeta   AP-1   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNR5A2 promoter sequence
   Search SABiosciences Chromatin IP Primers for NR5A2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NR5A2


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

Entrez Gene cytogenetic band: 1q32.1   Ensembl cytogenetic band:  1q32.1   HGNC cytogenetic band: 1q32.11

NR5A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NR5A2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P199996:  view genomic region     (about GC identifiers)

Start:
199,996,730 bp from pter      End:
200,146,552 bp from pter
Size:
149,823 bases      Orientation:
plus 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: NR5A2_HUMAN, O00482 (See protein sequence)
Recommended Name: Nuclear receptor subfamily 5 group A member 2  
Size: 541 amino acids; 61331 Da
Subunit: Binds DNA as a monomer (By similarity). Interacts with GRIP1, NCOA2 and NR0B2
Subcellular location: Nucleus (Probable)
6/9 PDB 3D structures from and Proteopedia for NR5A2 (see all 9):
1YOK (3D)        1YUC (3D)        1ZDU (3D)        2A66 (3D)        3PLZ (3D)        3TX7 (3D)    
Secondary accessions: O95642 Q147U3
Alternative splicing: 3 isoforms:  O00482-1   O00482-2   O00482-3   (Does not induce CYP7A promoter activity)

Explore the universe of human proteins at neXtProt for NR5A2: NX_O00482

Explore proteomics data for NR5A2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O00482

  • NR5A2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NR5A2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001263393.1  NP_003813.1  NP_995582.1  

    ENSEMBL proteins: 
     ENSP00000356331   ENSP00000236914   ENSP00000436776   ENSP00000414888   ENSP00000356326  
     ENSP00000439116  
    Reactome Protein details: O00482
    Human Recombinant Protein Products for NR5A2: 
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    Novus Biologicals NR5A2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA15143342
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IDA15205472

    NR5A2 for ontologies           About GeneDecksing



    NR5A2 Antibody Products: 
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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: Liver receptor homolog-1 
    5A. Fushi tarazu F1-like receptors

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

    Graphical View of Domain Structure for InterPro Entry O00482

    ProtoNet protein and cluster: O00482

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


    UniProtKB/Swiss-Prot: NR5A2_HUMAN, O00482
    Similarity: Belongs to the nuclear hormone receptor family. NR5 subfamily
    Similarity: Contains 1 nuclear receptor DNA-binding domain


    NR5A2 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: NR5A2_HUMAN, O00482
    Function: Binds to the sequence element 5'-AACGACCGACCTTGAG-3' of the enhancer II of hepatitis B virus genes, a
    critical cis-element of their expression and regulation. May be responsible for the liver-specific activity of
    enhancer II, probably in combination with other hepatocyte transcription factors. Key regulator of cholesterol
    7-alpha-hydroxylase gene (CYP7A) expression in liver. May also contribute to the regulation of pancreas-specific
    genes and play important roles in embryonic development

         Genatlas biochemistry entry for NR5A2:
    nuclear receptor subfamily 5,group A,member 2,orphan nuclear receptor,expressed in liver,yolk
    sac,intestine,pancreas,activating the alpha 1 fetoprotein gene in early differentiating hepatocytes

         Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IDA16289203
    GO:0003690double-stranded DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IDA15205472
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity TAS9786908
    GO:0003707steroid hormone receptor activity IEA--
         
    NR5A2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NR5A2:
     Increased cell death HMECs cel 

         9 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Nr5a2):
     digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size  homeostasis/metabolism 
     immune system  liver/biliary system  mortality/aging  reproductive system 

    NR5A2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for NR5A2: Nr5a2tm1Auw Nr5a2tm1Lex

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NR5A2 
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NR5A2 

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    SwitchGear 3'UTR luciferase reporter plasmidNR5A2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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                         Customized lentivirus expression plasmids for stable overexpression of NR5A2 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NR5A2


    (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 NR5A2 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Nuclear Receptor transcription pathway
    Nuclear Receptor transcription pathway0.68
    Nuclear Receptors0.68
    2Regulation of beta-cell development
    Regulation of beta-cell development0.56
    Maturity onset diabetes of the young0.56
    3Generic Transcription Pathway
    Gene Expression0.47
    Generic Transcription Pathway0.47
    4Axon guidance
    Developmental Biology0.69
    5Selected targets of Oct-3/4
    Selected targets of Oct-3/4

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for NR5A2
        Selected targets of Oct-3/4
    Selected targets of ESR1
    Selected targets of HNF1

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for NR5A2
        Oct4 in Mammalian ESC Pluripotency

    1 BioSystems Pathway for NR5A2
        Nuclear Receptors

    5/6        Reactome Pathways for NR5A2 (see all 6)
        Developmental Biology
    Generic Transcription Pathway
    Nuclear Receptor transcription pathway
    Regulation of beta-cell development
    Gene Expression


    1         Kegg Pathway  (Kegg details for NR5A2):
        Maturity onset diabetes of the young


    NR5A2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NR5A2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/42 Interacting proteins for NR5A2 (O004821, 2, 3 ENSP000003563314) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBE2IP632792, 3, ENSP000003248974MINT-3380375 I2D: score=1 STRING: ENSP00000324897
    EDF1O608691, 3, ENSP000002240734EBI-781320,EBI-781301 I2D: score=3 STRING: ENSP00000224073
    NCOA2Q155963, ENSP000003999684I2D: score=1 STRING: ENSP00000399968
    PPARGC1AQ9UBK23, ENSP000002648674I2D: score=1 STRING: ENSP00000264867
    NR0B2Q154663, ENSP000002542274I2D: score=6 STRING: ENSP00000254227
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent TAS16289203
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--
    GO:0008206bile acid metabolic process IEA--
    GO:0009790embryo development TAS16289203
    GO:0010467gene expression TAS--

    NR5A2 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

    NR5A2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for NR5A2

    10/16 Novoseek inferred chemical compound relationships for NR5A2 gene (see all 16)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chenodeoxycholic acid 71.2 4 16469397 (1), 11518759 (1)
    bile acid 67 4 15130581 (1), 16469397 (1)
    3beta-hydroxysteroid 61.3 1 15928316 (1)
    cholesterol 53.6 39 15976031 (2), 15218078 (2), 17977826 (2), 12518001 (1) (see all 19)
    steroid 44.8 14 19359379 (2), 11564608 (2), 19067654 (2), 16423880 (1) (see all 7)
    estrogen 32.7 8 12972182 (2), 15117876 (2), 16091743 (1), 15464421 (1) (see all 5)
    sterol 31.9 4 15121760 (1), 10747975 (1)
    forskolin 22.7 1 14593077 (1)
    retinoic acid 22.2 2 16357189 (1), 18772362 (1)
    phospholipid 17.6 2 17910058 (2)

    Search CenterWatch for drugs/clinical trials and news about NR5A2

    (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 NR5A2 gene (3 alternative transcripts): 
    NM_001276464.1  NM_003822.4  NM_205860.2  

    Unigene Cluster for NR5A2:

    Nuclear receptor subfamily 5, group A, member 2
    Hs.33446  [show with all ESTs]
    Unigene Representative Sequence: NM_205860
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367362(uc009wzg.1 uc001gvb.3 uc001gvc.3 uc009wzh.3 uc010pph.2)
    ENST00000236914 ENST00000474307 ENST00000447034 ENST00000367357 ENST00000544748

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AB019246.1 AB307719.1 AF112344.1 AF124247.1 AF124248.1 AF146343.1 AF228413.1 AK304344.1 
    AK304365.1 AK308446.1 AK316513.1 BC027893.1 BC080182.1 BC118571.1 BC118652.1 HQ692857.1 
    U80251.1 U93553.1 

    6 DOTS entries:

    DT.40313519  DT.102829441  DT.99935981  DT.99955052  DT.91747013  DT.408836 

    24/58 AceView cDNA sequences (see all 58):

    BM141652 BX496365 BC027893 NM_205860 BM141993 AF112344 AF228413 NM_003822 
    BM141908 AA627793 CB162803 CK819760 BM141724 AF124247 CK819759 AW196827 
    AF124248 AA677876 CA776772 AW873908 AW614393 U80251 CA772377 BX280120 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for NR5A2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
    SP1:              -     -                 -                                       
    SP2:              -     -     -           -                                       
    SP3:                                                                              
    SP4:                          -                                                   


    ECgene alternative splicing isoforms for NR5A2

    (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

    NR5A2 expression in normal human tissues (normalized intensities)      NR5A2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAGTTCTTG
    NR5A2 Expression
    About this image


    NR5A2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/45 selected tissues (see all 45) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 8 entries
             Acinar Cells Pancreatic Acini
             Islets of Langerhans
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...
             pancreas ; exocrine glandular cells   
             Pancreatic Islet   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 7 entries
             colon ; peripheral nerve/ganglion   
             sigmoid colon mucosa   
     
     Endothelium (Cardiovascular System)    fully expand to see all 7 entries
             PureStem endothelial progenitor RP1-MV2-18
             Human Bladder Microvascular Endothelial Cells (HBdMEC)   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   

    See NR5A2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NR5A2

    SOURCE GeneReport for Unigene cluster: Hs.33446

    UniProtKB/Swiss-Prot: NR5A2_HUMAN, O00482
    Tissue specificity: Abundantly expressed in pancreas, less in liver, very low levels in heart and lung. Expressed
    in the Hep-G2 cell line. Isoform 1 and isoform 2 seem to be present in fetal and adult liver and Hep-G2 cells

        SABiosciences Expression via Pathway-Focused PCR Arrays including NR5A2: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for NR5A2 gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nr5a21 , 5 nuclear receptor subfamily 5, group A, member 21, 5 86.83(n)1
    90.17(a)1
      1 (59.98 cM)5
    264241  NM_030676.31  NP_109601.11 
     1368435845 
    chicken
    (Gallus gallus)
    Aves NR5A21 nuclear receptor subfamily 5, group A, member 2 86.76(n)
    97.21(a)
      395961  NM_205078.1  NP_990409.1 
    lizard
    (Anolis carolinensis)
    Reptilia NR5A26
    nuclear receptor subfamily 5, group A, member 2
    93(a)
    1 ↔ 1
    GL343211.1(1413223-1562437)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.121292 Xenopus laevis Ftz-F1-related orphan receptor B (xFF1rB) more 81.02(n)    U05003.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nr5a22 nuclear receptor subfamily 5, group A, member 2 77.06(n)   30749  AY034061.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ftz-f11 , 3 regulation of transcription,
    DNA-dependent DNA more3
    ftz transcription factor 11
    80(a)
    (best of 2)3
    56.51(n)1
    55.17(a)1
      400451  NM_079419.31  NP_524143.21 
    worm
    (Caenorhabditis elegans)
    Secernentea nhr-253 nuclear hormone receptor 74(a)   X(13044117-13048438)   --


    ENSEMBL Gene Tree for NR5A2 (if available)
    TreeFam Gene Tree for NR5A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NR5A2 gene
    RXRA2  RXRG2  NR2F12  NR5A12  NR2F22  NR2C12  HNF4G2  NR2F62  
    NR2E12  HNF4A2  RXRB2  NR2C22  NR6A12  
    18/40 SIMAP similar genes for NR5A2 using alignment to 9 protein entries:     NR5A2_HUMAN (see all proteins) (see all similar genes):
    B1F3    FTF    X-linked retinopathy protein    OK/SW-cl.41    NR3C2    C9orf85
    NR4A2    RORA    RXRB    NR2C2    SH2B3    VDR
    ABI2    COQ5    KIAA0101    TUBA1C    LINC00269    RQCD1

    NR5A2 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

    10/3172 SNPs in NR5A2 are shown (see all 3172)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1909613611,2
    C--199994825(+) GGGGGG/TCTGAG 2 -- us2k10--------
    rs75463361,2
    C,F,A--199994841(+) AGGATC/TGCTTG 2 -- us2k18Minor allele frequency- T:0.44NA WA CSA 16
    rs1429485011,2
    C--199994858(+) GGAGGC/TGGAGG 2 -- us2k10--------
    rs64277991,2
    C,A,H--199994884(+) ATTGTG/ACCACT 2 -- us2k15Minor allele frequency- A:0.11NA WA CSA 9
    rs1399991521,2
    --199994987(+) AATCTC/GAGCAC 2 -- us2k10--------
    rs1480273231,2
    C--199995009(+) GAGGC-/AGGAGGAC 2 -- us2k10--------
    rs124071991,2
    C,F,H--199995063(+) actgtC/Ttctac 2 -- us2k12Minor allele frequency- T:0.02NA 124
    rs125662661,2
    C,F,H--199995068(+) ctctaC/Taaaac 2 -- us2k14Minor allele frequency- T:0.18NA EA 246
    rs1166145111,2
    C,F--199995206(+) CCAGCC/TTGGGT 2 -- us2k11Minor allele frequency- T:0.06WA 118
    rs1827203061,2
    --199995270(+) GTGAAA/TCTTTA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for NR5A2 (199996730 - 200146552 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for NR5A2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2668931CNV Deletion23128226
    nsv506972CNV Insertion20534489
    esv268970CNV Insertion20981092
    nsv161112CNV Loss16902084
    nsv437265CNV Loss16327808
    nsv873093CNV Gain21882294

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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.)
    About This Section
    OMIM gene information: 604453    OMIM disorders: --

    20/21 diseases for NR5A2 (see all 21):    About MalaCards
    dental caries    hepatitis b    leydig cell tumor    maturity-onset diabetes of the young
    hepatitis    acne    duodenitis    chronic myeloid leukemia
    intrahepatic cholangiocarcinoma    cytochrome p450    cholangiocarcinoma    inflammatory bowel disease
    myeloid leukemia    pancreatic cancer    alcoholism    colon cancer
    gastric cancer    pancreatitis    breast cancer    hepatocellular carcinoma

    2 diseases from the University of Copenhagen DISEASES database for NR5A2:
    Leydig cell tumor     Granulosa cell tumor

    NR5A2 for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for NR5A2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    granulosa cell tumor 43.7 3 15181096 (1), 15613430 (1)
    hepatitis b 34.7 11 11595170 (1), 12800251 (1), 10627534 (1), 14515208 (1) (see all 6)
    dental caries 33.5 1 16764842 (1)
    pancreas exocrine 31.9 2 12853459 (1), 15130581 (1)
    carcinoma ductal 10.5 3 16427184 (2), 16091743 (1)
    breast cancer 6.95 5 16091743 (1), 16109788 (1), 18191017 (1), 15695411 (1)
    breast carcinoma 0 5 16427184 (3), 15695411 (2)
    inflammation 0 3 17670946 (2), 15684064 (1)
    tumors 0 8 15695411 (3), 16091743 (2), 15684064 (2)

    Genetic Association Database (GAD): NR5A2
    Human Genome Epidemiology (HuGE) Navigator: NR5A2 (6 documents)

    Export disorders for NR5A2 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 NR5A2 gene, integrated from 9 sources (see all 179):
    (articles sorted by number of sources associating them with NR5A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Assignment of the fetoprotein transcription factor gene (FTF) to human chromosome band 1q32.11 by in situ hybridization. (PubMed id 9858833)1, 2, 3 Galarneau L.... Belanger L. (1998)
    2. Characterization of the genomic structure and tissue-specific promoter of the human nuclear receptor NR5A2 (hB1F) gene. (PubMed id 11595170)1, 2, 9 Zhang C.K.... Wang Y. (2001)
    3. Cloning and characterization of a novel human hepatocyte transcription factor, hB1F, which binds and activates enhancer II of hepatitis B virus. (PubMed id 9786908)1, 2, 9 Li M.... Wang Y. (1998)
    4. The crystal structures of human steroidogenic factor-1 and liver receptor homologue-1. (PubMed id 15897460)1, 2, 9 Wang W.... West B.L. (2005)
    5. Structural analyses reveal phosphatidyl inositols as ligands for the NR5 orphan receptors SF-1 and LRH-1. (PubMed id 15707893)1, 2, 9 Krylova I.N.... Ingraham H.A. (2005)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    7. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    8. A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33. (PubMed id 20101243)1, 4 Petersen G.M....Chanock S.J. (2010)
    9. Replication study of candidate genes/loci associated with osteoporosis based on genome-wide screening. (PubMed id 19629617)1, 4 Zhang Y.P....Deng H.W. (2010)
    10. Crystal structure of the human LRH-1 DBD-DNA complex reveals Ftz-F1 domain positioning is required for receptor activity. (PubMed id 16289203)1, 2 Solomon I.H....Ortlund E.A. (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: 2494 HGNC: 7984 AceView: NR5A2 Ensembl:ENSG00000116833 euGenes: HUgn2494
    ECgene: NR5A2 Kegg: 2494 H-InvDB: NR5A2

    (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 NR5A2 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 NR5A2 gene:
    Search GeneIP for patents involving NR5A2

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



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