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

Gene ID: 4929, updated on 2-Oct-2018

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; 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

Genomic context

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

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

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 BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-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 regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
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 
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 
proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
 
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
 
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 

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)

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 isoform a

    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
  2. NM_173173.2NP_775265.1  nuclear receptor subfamily 4 group A member 2 isoform d

    Status: REVIEWED

    Source sequence(s)
    AK223625, AK291456, DA093733
    Consensus CDS
    CCDS86887.1

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

    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.
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