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

    Gene ID: 4929, updated on 26-Feb-2024

    Summary

    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; AllianceGenome:HGNC:7981
    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; IDLDP; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NR4A2 in Genome Data Viewer
    Location:
    2q24.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (156324437..156332721, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (156777128..156785409, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (157180949..157189233, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373703 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:156697781-156698549 Neighboring gene VISTA enhancer hs411 Neighboring gene MPRA-validated peak3904 silencer Neighboring gene long intergenic non-protein coding RNA 1876 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:156903772-156904272 Neighboring gene MPRA-validated peak3905 silencer Neighboring gene MPRA-validated peak3906 silencer Neighboring gene HEBP2 pseudogene 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:156939984-156941183 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:157031916-157032139 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_53336 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:157149084-157149974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16658 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16659 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:157190964-157191836 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:157197537-157198092 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:157198093-157198646 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16661 Neighboring gene uncharacterized LOC124906082 Neighboring gene uncharacterized LOC440918

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2022-09-27)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2022-09-27)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in adult locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in canonical Wnt signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to corticotropin-releasing hormone stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to corticotropin-releasing hormone stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within cellular response to extracellular stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in central nervous system neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in central nervous system projection neuron axonogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dopamine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dopaminergic neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in dopaminergic neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in general adaptation syndrome IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in habenula development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in midbrain dopaminergic neuron differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron migration TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of dopamine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of respiratory gaseous exchange IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to amphetamine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of protein-containing complex TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_011821.2 RefSeqGene

      Range
      5000..13284
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_006177.1

      Status: REVIEWED

      Source sequence(s)
      AC074099
      Consensus CDS
      CCDS2201.1
      UniProtKB/Swiss-Prot
      P43354, Q16311, Q53RZ2, Q6NXU0
      UniProtKB/TrEMBL
      F1D8N6, Q53EL4
      Related
      ENSP00000344479.4, ENST00000339562.9
      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
    2. NM_173173.3NP_775265.1  nuclear receptor subfamily 4 group A member 2 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC074099
      Consensus CDS
      CCDS86887.1
      UniProtKB/TrEMBL
      A0A8V8TR19
      Related
      ENSP00000389986.1, ENST00000426264.5
      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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      156324437..156332721 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006712553.5XP_006712616.1  nuclear receptor subfamily 4 group A member 2 isoform X2

      UniProtKB/TrEMBL
      B7Z5U7
      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
    2. XM_011511246.3XP_011509548.1  nuclear receptor subfamily 4 group A member 2 isoform X4

      UniProtKB/TrEMBL
      F8W6I3
      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
    3. XM_005246621.5XP_005246678.1  nuclear receptor subfamily 4 group A member 2 isoform X1

      UniProtKB/TrEMBL
      B7Z5U7
      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
    4. XM_047444554.1XP_047300510.1  nuclear receptor subfamily 4 group A member 2 isoform X3

      UniProtKB/TrEMBL
      F1DAL2, Q53EL4
    5. XM_047444551.1XP_047300507.1  nuclear receptor subfamily 4 group A member 2 isoform X8

      UniProtKB/Swiss-Prot
      P43354, Q16311, Q53RZ2, Q6NXU0
      UniProtKB/TrEMBL
      F1D8N6, Q53EL4
    6. XM_047444558.1XP_047300514.1  nuclear receptor subfamily 4 group A member 2 isoform X6

      UniProtKB/TrEMBL
      A0A8V8TR19
      Related
      ENSP00000514865.1, ENST00000700228.1
    7. XM_047444555.1XP_047300511.1  nuclear receptor subfamily 4 group A member 2 isoform X3

      UniProtKB/TrEMBL
      F1DAL2, Q53EL4
      Related
      ENSP00000514868.1, ENST00000700231.1
    8. XM_047444557.1XP_047300513.1  nuclear receptor subfamily 4 group A member 2 isoform X5

      UniProtKB/TrEMBL
      A0A8V8TR19
    9. XM_047444559.1XP_047300515.1  nuclear receptor subfamily 4 group A member 2 isoform X7

      UniProtKB/TrEMBL
      E9PBQ4
      Related
      ENSP00000415632.1, ENST00000417764.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      156777128..156785409 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342297.1XP_054198272.1  nuclear receptor subfamily 4 group A member 2 isoform X2

      UniProtKB/TrEMBL
      B7Z5U7
    2. XM_054342299.1XP_054198274.1  nuclear receptor subfamily 4 group A member 2 isoform X4

      UniProtKB/TrEMBL
      F8W6I3
    3. XM_054342296.1XP_054198271.1  nuclear receptor subfamily 4 group A member 2 isoform X1

      UniProtKB/TrEMBL
      B7Z5U7
    4. XM_054342301.1XP_054198276.1  nuclear receptor subfamily 4 group A member 2 isoform X6

      UniProtKB/TrEMBL
      A0A8V8TR19
    5. XM_054342298.1XP_054198273.1  nuclear receptor subfamily 4 group A member 2 isoform X3

      UniProtKB/TrEMBL
      Q53EL4
    6. XM_054342300.1XP_054198275.1  nuclear receptor subfamily 4 group A member 2 isoform X5

      UniProtKB/TrEMBL
      A0A8V8TR19
    7. XM_054342302.1XP_054198277.1  nuclear receptor subfamily 4 group A member 2 isoform X7

      UniProtKB/TrEMBL
      E9PBQ4

    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.