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NR4A3 Gene

protein-coding   GIFtS: 59
GCID: GC09P102584

Nuclear Receptor Subfamily 4, Group A, Member 3

  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)
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Aliases
Nuclear Receptor Subfamily 4, Group A, Member 31 2     MINOR2 3
CSMF2 3 5     NOR12 3
Mitogen-Induced Nuclear Orphan Receptor2 3     TEC2 3
Neuron-Derived Orphan Receptor 12 3     Chondrosarcoma, Extraskeletal Myxoid, Fused To EWS2
Nuclear Hormone Receptor NOR-12 3     Nuclear Receptor Subfamily 4 Group A Member 32
CHN2 3     Translocated In Extraskeletal Chondrosarcoma2

External Ids:    HGNC: 79821   Entrez Gene: 80132   Ensembl: ENSG000001195087   OMIM: 6005425   UniProtKB: Q925703   

Export aliases for NR4A3 gene to outside databases

Previous GC identifers: GC09P093384 GC09P094327 GC09P096041 GC09P097963 GC09P099663 GC09P101623 GC09P072183


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NR4A3 Gene:
This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may
act as a transcriptional activator. The protein can efficiently bind the NGFI-B Response Element (NBRE). Three
different versions of extraskeletal myxoid chondrosarcomas (EMCs) are the result of reciprocal translocations
between this gene and other genes. The translocation breakpoints are associated with Nuclear Receptor Subfamily
4, Group A, Member 3 (on chromosome 9) and either Ewing Sarcome Breakpoint Region 1 (on chromosome 22), RNA
Polymerase II, TATA Box-Binding Protein-Associated Factor, 68-KD (on chromosome 17), or Transcription factor 12
(on chromosome 15). Multiple transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Mar 2010)

GeneCards Summary for NR4A3 Gene:
NR4A3 (nuclear receptor subfamily 4, group A, member 3) is a protein-coding gene. Diseases associated with NR4A3 include extraskeletal myxoid chondrosarcoma, and fetal adenoma. GO annotations related to this gene include steroid hormone receptor activity and sequence-specific DNA binding. An important paralog of this gene is ESRRA.

UniProtKB/Swiss-Prot: NR4A3_HUMAN, Q92570
Function: Binds to the B1A response-element

Gene Wiki entry for NR4A3 (Neuron-derived orphan receptor 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NR4A3 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNR4A3 promoter sequence
   Search Chromatin IP Primers for NR4A3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NR4A3


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

Entrez Gene cytogenetic band: 9q22   Ensembl cytogenetic band:  9q22.33   HGNC cytogenetic band: 9q22

NR4A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NR4A3 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P102584:  view genomic region     (about GC identifiers)

Start:
102,584,137 bp from pter      End:
102,629,173 bp from pter
Size:
45,037 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NR4A3_HUMAN, Q92570 (See protein sequence)
Recommended Name: Nuclear receptor subfamily 4 group A member 3  
Size: 626 amino acids; 68230 Da
Sequence caution: Sequence=AAB02581.1; Type=Frameshift; Positions=4, 20; Sequence=AAB36006.1; Type=Erroneous
initiation;
Secondary accessions: A2A3I7 Q12935 Q14979 Q16420 Q4VXA8 Q4VXA9 Q9UEK2 Q9UEK3
Alternative splicing: 3 isoforms:  Q92570-1   Q92570-2   Q92570-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NR4A3: NX_Q92570

Explore proteomics data for NR4A3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NR4A3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_008912.2  NP_775291.1  NP_775292.1  

    ENSEMBL proteins: 
     ENSP00000340301   ENSP00000378531   ENSP00000333122  

    NR4A3 Human Recombinant Protein Products:

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    Novus Biologicals NR4A3 Protein
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    Browse Sino Biological Cell Lysates
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    Browse Proteins at Cloud-Clone Corp.

    NR4A3 Antibody Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    NR: Nuclear hormone receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: Neuron-derived orphan receptor 1
    4A. Nerve growth factor IB-like receptors

    Selected InterPro protein domains (see all 7):
     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 Q92570

    ProtoNet protein and cluster: Q92570

    3 Blocks protein domains:
    IPB001723 Steroid hormone receptor signature
    IPB003070 Orphan nuclear receptor (4A nuclear receptor) family signature
    IPB003072 Orphan nuclear receptor NOR1 signature


    UniProtKB/Swiss-Prot: NR4A3_HUMAN, Q92570
    Similarity: Belongs to the nuclear hormone receptor family. NR4 subfamily
    Similarity: Contains 1 nuclear receptor DNA-binding domain


    NR4A3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NR4A3_HUMAN, Q92570
    Function: Binds to the B1A response-element

         Genatlas biochemistry entry for NR4A3:
    nuclear receptor subfamily 4,group A,member 3, the steroid/thyroid receptor superfamily,with variants generated by
    alternative splicing,involved in extraskeletal and skeletal myxoid chondrosarcoma EMC with translocation
    t(9;22)(q22;q12) see EWS,EWSR,and in neural development processes

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA--
    GO:0003677DNA binding NAS8634690
    GO:0003700sequence-specific DNA binding transcription factor activity ----
    GO:0003707steroid hormone receptor activity IEA--
    GO:0004887thyroid hormone receptor activity TAS8570200
         
    NR4A3 for ontologies           About GeneDecksing


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Nr4a3):
     behavior/neurological  cellular  embryogenesis  growth/size/body  hearing/vestibular/ear 
     hematopoietic system  homeostasis/metabolism  immune system  integument  liver/biliary system 
     mortality/aging  nervous system  tumorigenesis 

    NR4A3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for NR4A3: Nr4a3tm1Dgen Nr4a3tm1Wnt

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NR4A3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NR4A3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NR4A3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NR4A3

    miRNA
    Products:
        
    miRTarBase miRNAs that target NR4A3:
    hsa-mir-124-3p (MIRT022644), hsa-mir-26b-5p (MIRT029401), hsa-mir-10b-5p (MIRT025586)

    Block miRNA regulation of human, mouse, rat NR4A3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NR4A3 (see all 79):
    hsa-miR-411* hsa-miR-579 hsa-miR-520e hsa-miR-106a hsa-miR-374a hsa-miR-4325 hsa-miR-93 hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidNR4A3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NR4A3
    Predesigned siRNA for gene silencing in human, mouse, rat NR4A3

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for NR4A3

    Clone
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    OriGene clones in human, mouse for NR4A3 (see all 21)
    OriGene ORF clones in mouse, rat for NR4A3
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    GenScript: all cDNA clones in your preferred vector (see all 3): NR4A3 (NM_006981)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NR4A3
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat NR4A3

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    Browse ESI BIO Cell Lines and PureStem Progenitors for NR4A3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NR4A3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NR4A3_HUMAN, Q92570: Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol1
    golgi apparatus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS8634690
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex IEA--

    NR4A3 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NR4A3 About    
    See pathways by source

    SuperPathContained pathways About
    1Gene Expression
    Generic Transcription Pathway0.40
    Gene Expression0.40
    2Nuclear Receptor transcription pathway
    Nuclear Receptor transcription pathway0.67
    3Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer
    4Hypertrophy Model
    Hypertrophy Model

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for NR4A3 (see all 6)
        G12-G13 in Cellular Signaling
    ICos-ICosL Pathway in T-Helper Cell
    PI3K Signaling in B-Lymphocyte
    CD28 Signaling in T-Helper Cell
    Tec Kinases Signaling

    1 BioSystems Pathway for NR4A3
        Hypertrophy Model


    1 Kegg Pathway  (Kegg details for NR4A3):
        Transcriptional misregulation in cancer


    NR4A3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NR4A3: 
              Leukemia in human mouse rat
              T Helper Cell Differentiation in human mouse rat
              Tumor Metastasis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NR4A3

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

    Selected Interacting proteins for NR4A3 (Q925703 ENSP000003331224) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SIX3O953433, ENSP000002606534I2D: score=3 STRING: ENSP00000260653
    MTF1Q148723, ENSP000003621274I2D: score=1 STRING: ENSP00000362127
    RORBQ927533, ENSP000003660934I2D: score=1 STRING: ENSP00000366093
    TRIM28Q132633, ENSP000002530244I2D: score=1 STRING: ENSP00000253024
    VHLP403373, ENSP000002564744I2D: score=1 STRING: ENSP00000256474
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 23):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001707mesoderm formation IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--
    GO:0007411axon guidance IEA--
    GO:0008150biological_process ND--

    NR4A3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NR4A3

    3 Novoseek inferred chemical compound relationships for NR4A3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nor 1 96.7 40 16945922 (8), 10773199 (4), 15262426 (3), 14525795 (2) (see all 14)
    tyrosine 19.8 5 10523612 (2), 17785466 (1), 15788485 (1), 11358387 (1)
    steroid 14.5 4 8570200 (2), 16493583 (1), 11487030 (1)



    NR4A3 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NR4A3 gene (4 alternative transcripts): 
    NM_006981.3  NM_173199.2  NM_173200.2  NM_173198.1  

    Unigene Cluster for NR4A3:

    Nuclear receptor subfamily 4, group A, member 3
    Hs.279522  [show with all ESTs]
    Unigene Representative Sequence: NM_173200
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000338488(uc004bae.3) ENST00000395097 ENST00000330847(uc022bky.1 uc004baf.1)

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    Selected qRT-PCR Assays for microRNAs that regulate NR4A3 (see all 79):
    hsa-miR-411* hsa-miR-579 hsa-miR-520e hsa-miR-106a hsa-miR-374a hsa-miR-4325 hsa-miR-93 hsa-miR-92b
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      QuantiFast Probe-based Assays in human, mouse, rat NR4A3

    Additional mRNA sequence: 

    AK027388.1 AK226108.1 BX649089.1 D78579.1 D85241.1 D85242.1 S81242.1 S81243.1 
    X89894.1 

    8 DOTS entries:

    DT.100748418  DT.413728  DT.91836856  DT.95237739  DT.92041977  DT.91706558  DT.91741844  DT.97762046 

    Selected AceView cDNA sequences (see all 72):

    AA421939 BM557376 CA445850 NM_006981 NM_173198 X89894 BQ006220 BM674223 
    AW612177 BM992796 NM_173199 NM_173200 AI559323 BQ431513 CA440796 BQ716917 
    AI911092 CA447139 AA648528 AL710005 D85241 BX649089 D78579 BG546553 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NR4A3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTTCTGTGG
    NR4A3 Expression
    About this image


    NR4A3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
     
     Adrenal Gland (Endocrine System)
    NR4A3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NR4A3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.279522

    UniProtKB/Swiss-Prot: NR4A3_HUMAN, Q92570
    Tissue specificity: Isoform alpha is highly expressed in skeletal muscle. Isoform beta is highly expressed in
    skeletal muscle and low expressed in fetal brain and placenta

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NR4A3: 
              Leukemia in human mouse rat
              T Helper Cell Differentiation in human mouse rat
              Tumor Metastasis in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for NR4A3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NR4A3
    QuantiTect SYBR Green Assays in human, mouse, rat NR4A3
    QuantiFast Probe-based Assays in human, mouse, rat NR4A3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NR4A3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for NR4A3 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nr4a31 , 5 nuclear receptor subfamily 4, group A, member 31, 5 88.96(n)1
    92.77(a)1
      4 (26.07 cM)5
    181241  NM_015743.21  NP_056558.11 
     480451535 
    chicken
    (Gallus gallus)
    Aves NR4A31 nuclear receptor subfamily 4, group A, member 3 79.34(n)
    81.49(a)
      420996  XM_419081.4  XP_419081.3 
    lizard
    (Anolis carolinensis)
    Reptilia NR4A36
    nuclear receptor subfamily 4, group A, member 3
    77(a)
    1 ↔ 1
    6(55233036-55270157)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.51182 Transcribed sequence with weak similarity to protein more 78.38(n)    BQ393571.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nr4a31 nuclear receptor subfamily 4, group A, member 3 60.78(n)
    60.84(a)
      548604  NM_001172629.1  NP_001166100.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hr383 epidermal differentiation
    ligand-dependent nuclear more
    62(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea nhr-66
    Protein NHR-6, isoform a
    26(a)
    1 → many
    III(3573585-3578772) WBGene00003605


    ENSEMBL Gene Tree for NR4A3 (if available)
    TreeFam Gene Tree for NR4A3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for NR4A3 gene
    ESRRA2  NR3C22  NR4A12  PGR2  ESR22  NR3C12  AR2  NR4A22  
    ESRRB2  ESR12  ESRRG2  
    4 SIMAP similar genes for NR4A3 using alignment to 1 protein entry:     NR4A3_HUMAN:
    NR4A2    DKFZp451G125    NR4A1    NR1B2

    NR4A3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NR4A3 (see all 662)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs74674331,2
    C,F,A--72181410(+) CGGCGG/AGGTCA 3 -- us2k11Minor allele frequency- A:0.42NA 120
    rs123533851,2
    H--72181670(+) ATCGCC/TTGCGT 3 -- us2k14Minor allele frequency- T:0.00NS EA 418
    rs1439032701,2
    --72181729(+) TCCCCC/GCCTTC 3 -- us2k10--------
    rs1403085491,2
    --72181753(+) GATACA/CATGTA 3 -- us2k10--------
    rs2011118211,2
    C--72181955(+) TGGTCC/GTAGCT 3 -- us2k10--------
    rs1479630491,2
    --72182131(+) CATTGG/TTTCAC 3 -- us2k10--------
    rs753355381,2
    F--72182182(+) GACTGC/TGTTCA 3 -- us2k11Minor allele frequency- T:0.01EA 120
    rs1852607411,2
    --72182481(+) GTTCCA/TTTTCT 3 -- us2k10--------
    rs1401550851,2
    --72182530(+) AGACCC/TGCTCA 3 -- us2k10--------
    rs1901089671,2
    --72182591(+) AGCGCG/TCGTGT 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for NR4A3 (102584137 - 102629173 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for NR4A3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1004519CNV Insertion20482838
    nsv893622CNV Loss21882294
    nsv893621CNV Gain21882294
    nsv528025CNV Gain19592680
    nsv831668CNV Gain+Loss17160897

    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    OMIM gene information: 600542    OMIM disorders: --

    UniProtKB/Swiss-Prot: NR4A3_HUMAN, Q92570
  • Ewing sarcoma (ES) [MIM:612219]: A highly malignant, metastatic, primitive small round cell tumor of bone
    and soft tissue that affects children and adolescents. It belongs to the Ewing sarcoma family of tumors, a group
    of morphologically heterogeneous neoplasms that share the same cytogenetic features. They are considered neural
    tumors derived from cells of the neural crest. Ewing sarcoma represents the less differentiated form of the
    tumors. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration
    involving NR4A3 is found in patients with Erwing sarcoma. Translocation t(9;22)(q22-31;q11-12) with EWSR1
  • Note=A chromosomal aberration involving NR4A3 is a cause of a form of extraskeletal myxoid
    chondrosarcomas (EMC). Translocation t(9;17)(q22;q11) with TAF2N

  • Selected diseases for NR4A3 (see all 27):    
    About MalaCards
    extraskeletal myxoid chondrosarcoma    fetal adenoma    myxoid chondrosarcoma    chondrosarcoma
    holoprosencephaly    maturity-onset diabetes of the young    dental caries    neuronitis
    thyroiditis    gingivitis    bipolar disorder    cleft lip
    nasopharyngitis    acute myeloid leukemia    insulin resistance    hypoxia
    adenoma    sarcoma    multiple sclerosis    myeloid leukemia

    1 disease from the University of Copenhagen DISEASES database for NR4A3:
    Chondrosarcoma

    NR4A3 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for NR4A3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chondrosarcoma 82.2 18 10537274 (2), 11156374 (2), 8570200 (2), 10410173 (1) (see all 8)
    sarcoma 31.8 1 9781944 (1)
    tumors 0 3 12378528 (2)
    cancer 0 2 17302560 (1)

    Genetic Association Database (GAD): NR4A3
    Human Genome Epidemiology (HuGE) Navigator: NR4A3 (3 documents)

    Export disorders for NR4A3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NR4A3 gene, integrated from 10 sources (see all 84):
    (articles sorted by number of sources associating them with NR4A3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The isolation and characterization of MINOR, a novel mitogen- inducible nuclear orphan receptor. (PubMed id 8614405)1, 2, 3, 9 Hedvat C.V. and Irving S.G. (Mol. Endocrinol. 1995)
    2. Fusion of the EWS gene to CHN, a member of the steroid/thyroid receptor gene superfamily, in a human myxoid chondrosarcoma. (PubMed id 8570200)1, 2, 9 Clark J.... Cooper C.S. (Oncogene 1996)
    3. Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation. (PubMed id 8634690)1, 2, 9 Labelle Y.... Thomas G. (Hum. Mol. Genet. 1995)
    4. Alternative splicing generates isoforms of human neuron-derived orphan receptor-1 (NOR-1) mRNA. (PubMed id 9573341)1, 2, 9 Ohkura N.... Miki K. (Gene 1998)
    5. Replicated association of the NR4A3 gene with smoking behaviour in schizophrenia and in bipolar disorder. (PubMed id 20659174)1, 4 Novak G....Le Foll B. (Genes Brain Behav. 2010)
    6. Common polymorphisms within the NR4A3 locus, encoding the orphan nuclear receptor Nor-1, are associated with enhanced beta-cell function in non-diabetic subjects. (PubMed id 19682370)1, 4 Weyrich P....HAoring H.U. (BMC Med. Genet. 2009)
    7. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    8. Structure, mapping and expression of a human NOR-1 gene, the third member of the Nur77/NGFI-B family. (PubMed id 8809112)1, 2 Ohkura N.... Miki K. (Biochim. Biophys. Acta 1996)
    9. The NR4A orphan nuclear receptor NOR1 is induced by platelet-derived growth factor and mediates vascular smooth muscle cell proliferation. (PubMed id 16945922)1, 9 Nomiyama T....Bruemmer D. (J. Biol. Chem. 2006)
    10. Fluorescence in situ hybridization analysis of extraskeletal myxoid chondrosarcomas using EWSR1 and NR4A3 probes. (PubMed id 19775727)1, 9 Noguchi H....Hasegawa T. (Hum. Pathol. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    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: 8013 HGNC: 7982 AceView: NR4A3 Ensembl:ENSG00000119508 euGenes: HUgn8013
    ECgene: NR4A3 Kegg: 8013 H-InvDB: NR4A3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NR4A3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NR4A3 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NR4A3 gene:
    Search GeneIP for patents involving NR4A3

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



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