Description: Homo sapiens nuclear receptor subfamily 4, group A, member 2 (NR4A2), mRNA. RefSeq Summary (NM_006186): 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]. Transcript (Including UTRs) Position: hg19 chr2:157,180,944-157,189,287 Size: 8,344 Total Exon Count: 8 Strand: - Coding Region Position: hg19 chr2:157,182,256-157,186,698 Size: 4,443 Coding Exon Count: 6
ID:NR4A2_HUMAN DESCRIPTION: RecName: Full=Nuclear receptor subfamily 4 group A member 2; AltName: Full=Immediate-early response protein NOT; AltName: Full=Orphan nuclear receptor NURR1; AltName: Full=Transcriptionally-inducible nuclear receptor; FUNCTION: Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development. It is crucial for expression of a set of genes such as SLC6A3, SLC18A2, TH and DRD2 which are essential for development of mdDA neurons (By similarity). SUBUNIT: Interacts with SFPQ, NCOR2, SIN3A and HADC1. The interaction with NCOR2 increases in the absence of PITX3 (By similarity). INTERACTION: Q5H9L2:TCEAL5; NbExp=2; IntAct=EBI-2681738, EBI-2681773; SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Expressed in a number of cell lines of T-cell, B-cell and fibroblast origin. Strong expression in brain tissue. DEVELOPMENTAL STAGE: Rapidly and only very transiently expressed after cell activation, during the G0-G1 transition of the cell cycle. SIMILARITY: Belongs to the nuclear hormone receptor family. NR4 subfamily. SIMILARITY: Contains 1 nuclear receptor DNA-binding domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NR4A2";
antisocial behavioural traits Zoe M Prichard et al. 2007, Association analysis of 15 polymorphisms within 10 candidate genes for antisocial behavioural traits., Psychiatric genetics 17(5) : 299-303 2007.
[PubMed 17728669]
Parkinson's disease Xu, P. Y. et al. 2002, Association of homozygous 7048G7049 variant in the intron six of Nurr1 gene with Parkinson's disease., Neurology. 2002 Mar;58(6):881-4.
[PubMed 11914402]
The homozygote polymorphism of 7048G7049 in intron 6 of the Nurr1 gene is associated with typical PD.
Parkinson's disease Le, W. D. et al. 2002, Mutations in NR4A2 associated with familial Parkinson disease., Nature genetics. 2003 Jan;33(1):85-9.
[PubMed 12496759]
These data suggest that mutations in NR4A2 can cause dopaminergic dysfunction, associated with Parkinson disease.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P43354
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0003707 steroid hormone receptor activity GO:0004879 RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding GO:0005515 protein binding GO:0008013 beta-catenin binding GO:0008270 zinc ion binding GO:0035259 glucocorticoid receptor binding GO:0042803 protein homodimerization activity GO:0043565 sequence-specific DNA binding GO:0046872 metal ion binding GO:0046965 retinoid X receptor binding GO:0046982 protein heterodimerization activity
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0001666 response to hypoxia GO:0001764 neuron migration GO:0001975 response to amphetamine GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006367 transcription initiation from RNA polymerase II promoter GO:0007165 signal transduction GO:0007399 nervous system development GO:0008344 adult locomotory behavior GO:0009791 post-embryonic development GO:0010467 gene expression GO:0010468 regulation of gene expression GO:0021952 central nervous system projection neuron axonogenesis GO:0021953 central nervous system neuron differentiation GO:0021986 habenula development GO:0030182 neuron differentiation GO:0030522 intracellular receptor signaling pathway GO:0031668 cellular response to extracellular stimulus GO:0034599 cellular response to oxidative stress GO:0042053 regulation of dopamine metabolic process GO:0042416 dopamine biosynthetic process GO:0042417 dopamine metabolic process GO:0042551 neuron maturation GO:0043085 positive regulation of catalytic activity GO:0043401 steroid hormone mediated signaling pathway GO:0043524 negative regulation of neuron apoptotic process GO:0043576 regulation of respiratory gaseous exchange GO:0045444 fat cell differentiation GO:0045893 positive regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0051866 general adaptation syndrome GO:0060070 canonical Wnt signaling pathway GO:0071376 cellular response to corticotropin-releasing hormone stimulus GO:0071542 dopaminergic neuron differentiation GO:1904948 midbrain dopaminergic neuron differentiation GO:2001234 negative regulation of apoptotic signaling pathway
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