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    NR4A2 nuclear receptor subfamily 4 group A member 2 [ Homo sapiens (human) ]

    Gene ID: 4929, updated on 23-May-2018
    Official Symbol
    NR4A2provided by HGNC
    Official Full Name
    nuclear receptor subfamily 4 group A member 2provided by HGNC
    Primary source
    HGNC:HGNC:7981
    See related
    Ensembl:ENSG00000153234 MIM:601828; Vega:OTTHUMG00000131950
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NOT; RNR1; HZF-3; NURR1; TINUR
    Summary
    This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcription factor. Mutations in this gene have been associated with disorders related to dopaminergic dysfunction, including Parkinson disease, schizophernia, and manic depression. Misregulation of this gene may be associated with rheumatoid arthritis. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in adrenal (RPKM 41.8), bone marrow (RPKM 25.5) and 15 other tissues See more
    Orthologs
    See NR4A2 in Genome Data Viewer
    Location:
    2q24.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (156324432..156332775, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (157180944..157189287, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373703 Neighboring gene VISTA enhancer hs411 Neighboring gene heme binding protein 2 pseudogene Neighboring gene long intergenic non-protein coding RNA 1876 Neighboring gene uncharacterized LOC440918 Neighboring gene transfer RNA-Ala (CGC) 3-1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Parkinson disease, late-onset
    MedGen: C3160718 OMIM: 168600 GeneReviews: Parkinson Disease Overview
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association of lipid-lowering response to statins in combined study populations.
    NHGRI GWA Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    NHGRI GWA Catalog
    Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Knockdown of nuclear receptor subfamily 4, group A, member 2 (NR4A2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif upregulates the expression of nuclear receptor subfamily 4, group A, member 2 (NR4A2) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Aldosterone synthesis and secretion, organism-specific biosystem (from KEGG)
      Aldosterone synthesis and secretion, organism-specific biosystemAldosterone is a steroid hormone synthesized in and secreted from the outer layer of the adrenal cortex, the zona glomerulosa. Aldosterone plays an important role in the regulation of systemic blood ...
    • Aldosterone synthesis and secretion, conserved biosystem (from KEGG)
      Aldosterone synthesis and secretion, conserved biosystemAldosterone is a steroid hormone synthesized in and secreted from the outer layer of the adrenal cortex, the zona glomerulosa. Aldosterone plays an important role in the regulation of systemic blood ...
    • Corticotropin-releasing hormone signaling pathway, organism-specific biosystem (from WikiPathways)
      Corticotropin-releasing hormone signaling pathway, organism-specific biosystemCorticotropin-releasing hormone (CRH) is a neuropeptide secreted abundantly in the paraventricular nucleus of the hypothalamus, amygdala, cerebral cortex and cerebellum in the central nervous system ...
    • Dopaminergic Neurogenesis, organism-specific biosystem (from WikiPathways)
      Dopaminergic Neurogenesis, organism-specific biosystemConverted to human from mouse: http://www.wikipathways.org/index.php/Pathway:WP1498
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • Nuclear Receptor transcription pathway, organism-specific biosystem (from REACTOME)
      Nuclear Receptor transcription pathway, organism-specific biosystemA classic example of bifunctional transcription factors is the family of Nuclear Receptor (NR) proteins. These are DNA-binding transcription factors that bind certain hormones, vitamins, and other s...
    • Nuclear Receptors, organism-specific biosystem (from WikiPathways)
      Nuclear Receptors, organism-specific biosystemNuclear receptors are a class of proteins found within the interior of cells that are responsible for sensing the presence of steroid and thyroid hormones and certain other molecules. In response, th...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    RNA polymerase II proximal promoter sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    RNA polymerase II proximal promoter sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    RNA polymerase II transcription factor activity, sequence-specific DNA binding ISA
    Inferred from Sequence Alignment
    more info
     
    RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM
    Inferred from Sequence Model
    more info
    PubMed 
    RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    beta-catenin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    glucocorticoid receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    glucocorticoid receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein heterodimerization activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein homodimerization activity TAS
    Traceable Author Statement
    more info
    PubMed 
    retinoid X receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    steroid hormone receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    adult locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    canonical Wnt signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to corticotropin-releasing hormone stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cellular response to corticotropin-releasing hormone stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to extracellular stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
     
    central nervous system neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    central nervous system projection neuron axonogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    dopamine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    dopaminergic neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    dopaminergic neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    general adaptation syndrome IEA
    Inferred from Electronic Annotation
    more info
     
    habenula development IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    midbrain dopaminergic neuron differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    neuron maturation IEA
    Inferred from Electronic Annotation
    more info
     
    neuron migration TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of dopamine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of respiratory gaseous exchange IEA
    Inferred from Electronic Annotation
    more info
     
    response to amphetamine IEA
    Inferred from Electronic Annotation
    more info
     
    response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    steroid hormone mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    transcription initiation from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
     
    transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription factor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Preferred Names
    nuclear receptor subfamily 4 group A member 2
    Names
    NGFI-B/nur77 beta-type transcription factor homolog
    T-cell nuclear receptor NOT
    immediate-early response protein NOT
    intermediate-early receptor protein
    nuclear receptor related 1
    nur related protein-1, human homolog of
    orphan nuclear receptor NR4A2
    orphan nuclear receptor NURR1
    transcriptionally inducible nuclear receptor related 1
    transcriptionally-inducible nuclear receptor

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011821.1 RefSeqGene

      Range
      5001..13344
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006186.3NP_006177.1  nuclear receptor subfamily 4 group A member 2

      See identical proteins and their annotated locations for NP_006177.1

      Status: REVIEWED

      Source sequence(s)
      AK223625, DA093733, X75918
      Consensus CDS
      CCDS2201.1
      UniProtKB/Swiss-Prot
      P43354
      UniProtKB/TrEMBL
      F1D8N6, Q53EL4
      Related
      ENSP00000344479.4, OTTHUMP00000162787, ENST00000339562.8, OTTHUMT00000254909
      Conserved Domains (2) summary
      cd07071
      Location:361598
      NR_LBD_Nurr1; The ligand binding domain of Nurr1, a member of conserved family of nuclear receptors
      cd06969
      Location:261335
      NR_DBD_NGFI-B; DNA-binding domain of the orphan nuclear receptor, nerve growth factor-induced-B

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

      Range
      156324432..156332775 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511246.2XP_011509548.1  nuclear receptor subfamily 4 group A member 2 isoform X5

      Related
      ENSP00000386993.2, ENST00000409108.6
      Conserved Domains (2) summary
      cd06969
      Location:272346
      NR_DBD_NGFI-B; DNA-binding domain of the orphan nuclear receptor, nerve growth factor-induced-B
      cl11397
      Location:378488
      NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
    2. XM_005246621.4XP_005246678.1  nuclear receptor subfamily 4 group A member 2 isoform X1

      Conserved Domains (2) summary
      cd07071
      Location:372609
      NR_LBD_Nurr1; The ligand binding domain of Nurr1, a member of conserved family of nuclear receptors
      cd06969
      Location:272346
      NR_DBD_NGFI-B; DNA-binding domain of the orphan nuclear receptor, nerve growth factor-induced-B
    3. XM_017004219.2XP_016859708.1  nuclear receptor subfamily 4 group A member 2 isoform X2

      UniProtKB/Swiss-Prot
      P43354
      UniProtKB/TrEMBL
      F1D8N6
      Related
      ENSP00000386747.1, ENST00000409572.5
      Conserved Domains (2) summary
      cd07071
      Location:361598
      NR_LBD_Nurr1; The ligand binding domain of Nurr1, a member of conserved family of nuclear receptors
      cd06969
      Location:261335
      NR_DBD_NGFI-B; DNA-binding domain of the orphan nuclear receptor, nerve growth factor-induced-B
    4. XM_006712553.4XP_006712616.1  nuclear receptor subfamily 4 group A member 2 isoform X3

      Conserved Domains (2) summary
      cd06969
      Location:272346
      NR_DBD_NGFI-B; DNA-binding domain of the orphan nuclear receptor, nerve growth factor-induced-B
      cl11397
      Location:373584
      NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
    5. XM_005246622.3XP_005246679.1  nuclear receptor subfamily 4 group A member 2 isoform X6

      See identical proteins and their annotated locations for XP_005246679.1

      UniProtKB/Swiss-Prot
      P43354
      Related
      ENSP00000389986.1, OTTHUMP00000209447, ENST00000426264.5, OTTHUMT00000332640
      Conserved Domains (2) summary
      cd07071
      Location:298535
      NR_LBD_Nurr1; The ligand binding domain of Nurr1, a member of conserved family of nuclear receptors
      cd06969
      Location:198272
      NR_DBD_NGFI-B; DNA-binding domain of the orphan nuclear receptor, nerve growth factor-induced-B
    6. XM_017004220.2XP_016859709.1  nuclear receptor subfamily 4 group A member 2 isoform X4

      UniProtKB/TrEMBL
      F1DAL2
      Conserved Domains (2) summary
      cd06969
      Location:261335
      NR_DBD_NGFI-B; DNA-binding domain of the orphan nuclear receptor, nerve growth factor-induced-B
      cl11397
      Location:362573
      NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators

    RNA

    1. XR_427087.4 RNA Sequence

    2. XR_001738752.2 RNA Sequence

    3. XR_001738751.2 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_173171.1: Suppressed sequence

      Description
      NM_173171.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    2. NM_173172.1: Suppressed sequence

      Description
      NM_173172.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    3. NM_173173.1: Suppressed sequence

      Description
      NM_173173.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
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