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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NR4A2
nuclear receptor subfamily 4 group A member 2
Chromosome 2 Β· 2q24.1
NCBI Gene: 4929Ensembl: ENSG00000153234.16HGNC: HGNC:7981UniProt: F1D8N6
229PubMed Papers
21Diseases
0Drugs
50Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedReceptorTranscription Factor
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
negative regulation of apoptotic signaling pathwaynuclear speckprotein bindingsequence-specific double-stranded DNA bindingintellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonismNeurodevelopmental disordercomplex neurodevelopmental disorderParkinson disease
✦AI Summary

NR4A2 is a transcription factor in the nuclear receptor superfamily with dual roles in neuronal development and immune regulation. Primary function: NR4A2 is crucial for differentiation and maintenance of mesencephalic dopaminergic neurons, regulating expression of genes including SLC6A3, SLC18A2, TH, and DRD2 essential for dopaminergic neuron development 1. Mechanism: NR4A2 functions as a DNA-binding transcription factor that regulates gene expression through multiple epigenetic mechanisms including DNA methylation, histone deacetylation, and microRNA regulation 2. Beyond neuronal development, NR4A2 is activated in immune cells under chr2 stimulation, promoting T cell exhaustion through alterations in chr2 accessibility and transcriptional programs 3. In microglia, NR4A2 activation dysregulates cholesterol homeostasis via SQLE, contributing to protumorigenic immune responses 4. Disease relevance: Pathogenic NR4A2 variants cause developmental delay, intellectual disability, language impairment, and early-onset dystonia-parkinsonism 5. Reduced NR4A2 expression associates with neurodegeneration including Parkinson's and Alzheimer's disease 2. NR4A2 overexpression worsens sepsis outcomes in CD4+ T cells 6. Clinical significance: NR4A2 inhibition enhances CAR-T cell efficacy against solid tumors by preventing exhaustion 7, and NR4A2-targeted therapies show promise for neurodegenerative diseases and cancer immunotherapy.

Sources cited
1
NR4A2 role in dopaminergic neuronal differentiation and disease mechanisms in neurological disorders
PMID: 41419029
2
NR4A2 structure, regulation mechanisms including epigenetics, and association with neurodegenerative diseases
PMID: 41009723
3
NR4A2 activation in T cells promotes exhaustion and limits CAR-T cell function in solid tumors
PMID: 30814732
4
NR4A2 activation in microglia dysregulates cholesterol via SQLE and promotes protumorigenic responses
PMID: 36649564
5
NR4A2 pathogenic variants cause developmental delay, intellectual disability, language impairment, and movement disorders
PMID: 38791237
6
NR4A2+ CD4+ T cell subset in sepsis; Nr4a2 loss improves survival while overexpression worsens it
PMID: 41339491
7
NR4A2 deletion enhances CAR-T cell persistence by improving mitochondrial function against solid tumors
PMID: 39151930
Disease Associationsβ“˜21
intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonismOpen Targets
0.74Strong
Neurodevelopmental disorderOpen Targets
0.46Moderate
complex neurodevelopmental disorderOpen Targets
0.44Moderate
Parkinson diseaseOpen Targets
0.44Moderate
developmental disorder of mental healthOpen Targets
0.44Moderate
genetic disorderOpen Targets
0.41Moderate
Hereditary late-onset Parkinson diseaseOpen Targets
0.41Moderate
late-onset Parkinson diseaseOpen Targets
0.41Moderate
autosomal dominant dopa-responsive dystoniaOpen Targets
0.37Weak
prostatitisOpen Targets
0.33Weak
drug allergyOpen Targets
0.32Weak
major depressive disorderOpen Targets
0.28Weak
Neurodevelopmental delayOpen Targets
0.27Weak
autism spectrum disorderOpen Targets
0.27Weak
epilepsyOpen Targets
0.26Weak
ovarian dysfunctionOpen Targets
0.26Weak
sleep apneaOpen Targets
0.25Weak
Abruptio PlacentaeOpen Targets
0.20Weak
immune system diseaseOpen Targets
0.20Weak
intelligenceOpen Targets
0.20Weak
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonismUniProt
Pathogenic Variants50
NM_006186.4(NR4A2):c.325dup (p.Gln109fs)Pathogenic
Inborn genetic diseases|Neurodevelopmental disorder|not provided|Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β˜…β˜…β˜†β˜†2023β†’ Residue 109
NM_006186.4(NR4A2):c.80C>A (p.Ser27Ter)Pathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β˜…β˜†β˜†β˜†2026β†’ Residue 27
NM_006186.4(NR4A2):c.789C>G (p.Cys263Trp)Likely pathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β˜…β˜†β˜†β˜†2025β†’ Residue 263
NM_006186.4(NR4A2):c.1385_1386del (p.Leu462fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 462
NM_006186.4(NR4A2):c.460C>T (p.Gln154Ter)Pathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β˜…β˜†β˜†β˜†2025β†’ Residue 154
NM_006186.4(NR4A2):c.286del (p.Gln96fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 96
NM_006186.4(NR4A2):c.896G>C (p.Cys299Ser)Likely pathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β˜…β˜†β˜†β˜†2025β†’ Residue 299
NM_006186.4(NR4A2):c.706C>T (p.Gln236Ter)Pathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β˜…β˜†β˜†β˜†2025β†’ Residue 236
NM_006186.4(NR4A2):c.995-1G>APathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β˜…β˜†β˜†β˜†2025
NM_006186.4(NR4A2):c.377C>A (p.Ser126Ter)Pathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β˜…β˜†β˜†β˜†2024β†’ Residue 126
NM_006186.4(NR4A2):c.941G>C (p.Arg314Pro)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 314
NM_006186.4(NR4A2):c.30_31insG (p.Ser11fs)Pathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β˜…β˜†β˜†β˜†2024β†’ Residue 11
NM_006186.4(NR4A2):c.14_15insT (p.Gln5fs)Pathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β˜…β˜†β˜†β˜†2024β†’ Residue 5
NM_006186.4(NR4A2):c.548del (p.Pro183fs)Pathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β˜…β˜†β˜†β˜†2024β†’ Residue 183
NM_006186.4(NR4A2):c.-2-2delPathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β˜…β˜†β˜†β˜†2024
NM_006186.4(NR4A2):c.44_45insA (p.Ser16fs)Pathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β˜…β˜†β˜†β˜†2024β†’ Residue 16
NM_006186.4(NR4A2):c.536del (p.Lys179fs)Pathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β˜…β˜†β˜†β˜†2024β†’ Residue 179
NM_006186.4(NR4A2):c.534del (p.Phe178fs)Pathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β˜…β˜†β˜†β˜†2024β†’ Residue 178
NM_006186.4(NR4A2):c.1del (p.Met1fs)Pathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β˜…β˜†β˜†β˜†2024β†’ Residue 1
NM_006186.4(NR4A2):c.1159-81_1540+67delPathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β˜…β˜†β˜†β˜†2024
View on ClinVar β†—
Related Genes
SNCAProtein interaction100%FOSProtein interaction100%SLC18A2Protein interaction97%PITX3Protein interaction97%THProtein interaction95%PER2Protein interaction94%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
40%
Lung
5%
Liver
3%
Heart
2%
Brain
2%
Gene Interaction Network
Click a node to explore
NR4A2SNCAFOSSLC18A2PITX3THPER2
PROTEIN STRUCTURE
Preparing viewer…
PDB5Y41 Β· 2.05 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.09Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.02 [0.01–0.09]
RankingsWhere NR4A2 stands among ~20K protein-coding genes
  • #1,763of 20,598
    Most Researched229 Β· top 10%
  • #1,326of 5,498
    Most Pathogenic Variants50 Β· top quartile
  • #43of 17,882
    Most Constrained (LOEUF)0.09 Β· top 1%
Genes detectedNR4A2
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
NR4A transcription factors limit CAR T cell function in solid tumours.
PMID: 30814732
Nature Β· 2019
1.00
2
Targeting Microglial Metabolic Rewiring Synergizes with Immune-Checkpoint Blockade Therapy for Glioblastoma.
PMID: 36649564
Cancer Discov Β· 2023
0.90
3
Single-cell multi-omic landscape reveals anatomical-specific immune features in adult and pediatric sepsis.
PMID: 41339491
Nat Immunol Β· 2026
0.80
4
Regulation of
PMID: 41009723
Int J Mol Sci Β· 2025
0.70
5
Structural, molecular hybridization and network based identification of miR-373-3p and miR-520e-3p as regulators of NR4A2 human gene involved in neurodegeneration.
PMID: 35272569
Nucleosides Nucleotides Nucleic Acids Β· 2022
0.64