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

NR5A2 Gene

protein-coding   GIFtS: 66
GCID: GC01P199996

nuclear receptor subfamily 5, group A, member 2


(Previous symbol: FTF)
 Explore 27 diseases affiliated with
NR5A2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NR5A2    

Aliases
for NR5A2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Nuclear Receptor Subfamily 5, Group A, Member 21 2     CPF2 3
FTF1 2 3 5     CYP7A Promoter-Binding Factor2 3
LRH-11 2 3     LRH12
B1F21 2     B1-Binding Factor, Hepatocyte Transcription Factor Which Activates Enhancer II
Of Hepatitis B Virus2
FTZ-F11 2     Fetoprotein-Alpha 1 (AFP) Transcription Factor2
FTZ-F1beta1 2     Liver Nuclear Receptor Homolog-1 Variant 22
HB1F-21     Liver Receptor Homolog-12
HB1F5     Nuclear Receptor NR5A22
Alpha-1-Fetoprotein Transcription Factor2 3     Nuclear Receptor Subfamily 5 Group A Member 22
Hepatocytic Transcription Factor2 3     B1-Binding Factor3
Liver Receptor Homolog 12 3     HB1F5
B1F2 3     

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


Summaries
for NR5A2 gene

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

summary for NR5A2:
Liver receptor homolog-1 (LRH-1), also known as NR5A2, is a member of the orphan nuclear receptor family. It
has been linked to a variety of processes, such as bile acid metabolism, reverse cholesterol transport, cell
proliferation in the developing pancreas, and steroidogenesis.

Gene Wiki entry for NR5A2 (Liver receptor homolog-1)


Genomic Views
for NR5A2 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
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 plasmid: NR5A2 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

Proteins
for NR5A2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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)
6/8 PDB 3D structures from and Proteopedia for NR5A2 (see all 8):
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O00482

    • NR5A2 Protein expression data from MOPED and PaxDb:    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: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate: NR5A2
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    Novus Biologicals NR5A2 Proteins
    Novus Biologicals NR5A2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for NR5A2

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

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

    NR5A2 for ontologies           About GeneDecksing



    NR5A2 Antibody Products: 
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    ThermoFisher Antibodies for NR5A2

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    Uscn ELISAs and CLIAs for NR5A2

    Protein Domains /
    Families
    for NR5A2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NR5A2 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 O00482

    ProtoNet protein and cluster: O00482

    2 Blocks protein families:
    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


    Function
    for NR5A2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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): 5/12 molecular function terms (GO ID links to tree view) (see all 12):    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:
         Mouse knock-outs for NR5A2: Nr5a2tm1Auw Nr5a2tm1Lex
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for NR5A2 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NR5A2
    8/47 QIAGEN miScript miRNA Assays for microRNAs that regulate NR5A2 (see all 47):
    hsa-miR-640 hsa-miR-429 hsa-miR-300 hsa-miR-513a-5p hsa-miR-139-5p hsa-miR-128 hsa-miR-219-5p hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmid: NR5A2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NR5A2 (see all 7)
    OriGene shRNA RFP: NR5A2
    OriGene siRNA: NR5A2
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    Sirion Biotech Custom design and validation of potent shRNA sequences against NR5A2 

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for NR5A2
    Sirion Biotech Customized adenovirus for overexpression of NR5A2 
    Sirion Biotech Customized adenovirus for potent knockdown of NR5A2

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NR5A2 (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NR5A2 (see all 2)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): NR5A2 (NM_003822)
    Browse Sino Biological Human cDNA Clones
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    Cell Line
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    Search LifeMap BioReagents cell lines for NR5A2
    Sirion Biotech Customized stable knockdown cell line services for NR5A2 
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NR5A2


    Pathways & Interactions
    for NR5A2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Nuclear Receptor transcription pathway
    		Nuclear Receptor transcription pathway1.00
    		Nuclear Receptors0.68
    2Generic Transcription Pathway
    		Generic Transcription Pathway1.00
    		Gene Expression0.46
    3Regulation of beta-cell development
    		Regulation of beta-cell development1.00
    		Maturity onset diabetes of the young0.56
    4Regulation of gene expression in early pancreatic precursor cells
    		Regulation of gene expression in early pancreatic precursor cells1.00
    5Selected targets of HNF1
    		Selected targets of HNF11.00

    Pathway sources
    See GeneCards unified pathways
    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

    5/7        Reactome Pathways for NR5A2 (see all 7)
        Developmental Biology
    Generic Transcription Pathway
    Nuclear Receptor transcription pathway
    Regulation of beta-cell development
    PDX1-dependent synthesis of NR5A2 protein


    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)

    5/43 Interacting proteins for NR5A2 (O004821, 2, 3 ENSP000003563314) via UniProtKB, MINT, STRING, and/or I2D (see all 43)
    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
    LOC100996626Q9NPJ43I2D: score=2 
    PNRC2Q9NPJ43I2D: score=2 
    NCOA2Q155963, ENSP000003999684I2D: score=1 STRING: ENSP00000399968
    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: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



    Drugs & Compounds
    for NR5A2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for NR5A2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    DLPCSpecific liver receptor homolog-1 (LRH-1) agonist[18194-25-7]
    10/16 Novoseek 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 

    Transcripts
    for NR5A2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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


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    8/47 QIAGEN miScript miRNA Assays for microRNAs that regulate NR5A2 (see all 47):
    hsa-miR-640 hsa-miR-429 hsa-miR-300 hsa-miR-513a-5p hsa-miR-139-5p hsa-miR-128 hsa-miR-219-5p hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmid: NR5A2 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NR5A2 (see all 7)
    OriGene shRNA RFP: NR5A2
    OriGene siRNA: NR5A2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NR5A2
    Sirion Biotech Custom design and validation of potent shRNA sequences against NR5A2 
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): NR5A2 (NM_003822)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NR5A2 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NR5A2
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    Additional cDNA 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):

    BX496365 CK819759 BM141993 AW196827 AF228413 AA627793 CK819760 NM_003822 
    BM141908 CB162803 BC027893 NM_205860 AF124247 BM141652 BM141724 AF112344 
    BX280120 BC080182 BU683305 AF146343 AL706153 BX498812 AA677876 CA777052 

    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

    Expression
    for NR5A2 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCAGTTCTTG
    NR5A2 Expression
    About this image

    NR5A2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    7 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LiverLiver LobuleHepatocytesLiver
    PancreasDorsal Pancreatic BudPancreatic Progenitor CellsPancreas
    PancreasPancreatic AciniAcinar CellsPancreas
    PancreasVentral Pancreatic BudPancreatic Progenitor CellsPancreas
    Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor CellsMotor Neurons
    BoneMandibular ProcessBone
    Spinal CordSpinal Ventral ColumnsSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 6 LifeMap Cells 
    NameCategory
    PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial progenitor 30-SM2-1 (Embryonic Progenitor Cell)Endothelium
    PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)Endothelium
    Blimp1- mVenus and stella-ECFP genetically modified stem cells (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Ventral/hypothalamic-like neurons (Generation of midbra...)
    Posterior foregut-like cells (A scalable, suspensi...)

    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
    for NR5A2 gene

    (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 5/20 species (see all 20)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 94(a)
    		 1 ↔ 1
    		 GL343211.1(1432242-1562437)
    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 


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

    Paralogs
    for NR5A2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NR5A2 gene
    NR5A12  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    NR2C2    SH2B3    VDR    COQ5
    KIAA0101    TUBA1C    LINC00269    RQCD1    NR5A1    PPARA

    NR5A2 for paralogs           About GeneDecksing



    Genomic Variants
    for NR5A2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/2835 NCBI SNPs in NR5A2 are shown (see all 2835)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs353645221,2
    		C--171312895(+) AATGG-/AATTTT 1 -- ut311Minor allele frequency- A:0.00NA 2
    rs1909613611,2
    		--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
    		--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
    		--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
    		F--199995206(+) CCAGCC/TTGGGT 2 -- us2k11Minor allele frequency- T:0.06WA 118

    HapMap Linkage Disequilibrium report for NR5A2 (199996730 - 200146552 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for NR5A2
         1 CNV: 1023
         1 Indel: 11429

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    Disorders / Diseases
    for NR5A2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    NR5A2 for disorders           About GeneDecksing

    OMIM gene information: 604453    OMIM disorders: --

    20/27 diseases for NR5A2 (see all 27):    About MalaCards
    hepatitis b    bile acid malabsorption    dental caries    maturity-onset diabetes of the young
    hepatitis    cholesterol    leydig cell tumor    inflammatory bowel disease
    chronic myeloid leukemia    intrahepatic cholangiocarcinoma    myeloid leukemia    embryonal carcinoma
    acne    breast carcinoma    cholangiocarcinoma    breast cancer
    duodenitis    endometrial cancer    osteoporosis    hepatocellular carcinoma

    1 disease from the University of Copenhagen DISEASES database for NR5A2:
    Leydig cell tumor

    9 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: NR5A2 (6 documents)

    Export disorders for NR5A2 gene to outside databases

    Publications
    for NR5A2 gene

    (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 171):
    (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. 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)
    7. Modulation of human nuclear receptor LRH-1 activity by phospholipids and SHP. (PubMed id 15723037)1, 2 Ortlund E.A....Redinbo M.R. (2005)
    8. CPF: an orphan nuclear receptor that regulates liver-specific expression of the human cholesterol 7alpha-hydroxylase gene. (PubMed id 10359768)1, 2 Nitta M.... Shan B. (1999)
    9. Functional analysis of developmentally regulated chromatin-hypersensitive domains carrying the alpha 1-fetoprotein gene promoter and the albumin/alpha 1-fetoprotein intergenic enhancer. (PubMed id 7680097)1, 3 Bernier D....Belanger L. (1993)
    10. Liver receptor homolog 1 transcriptionally regulates human bile salt export pump expression. (PubMed id 18270374)1, 9 Song X....Deng R. (2008)

    External Searches for NR5A2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing NR5A2 gene

    (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

    Other Databases showing NR5A2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NR5A2 gene

    (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

    Intellectual Property
    for NR5A2 gene

    (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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