NR4A2 Chromosome 2
Nuclear receptor subfamily 4 group A member 2
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What This Gene Does
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]
Gene Info
Gene Group
Nuclear receptor subfamily 4 group A
Locus Type
gene with protein product
Location
2q24.1
Ensembl
ENSG00000153234
Associated Conditions (11)
NR4A2-related disorder
Parkinson disease
late-onset
Inborn genetic diseases
Epilepsy
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
Autism spectrum disorder
Neurodevelopmental delay
Developmental disorder
Complex neurodevelopmental disorder
Neurodevelopmental disorder
Key Variants
RS143618355
Conflicting classifications of pathogenicity
NR4A2-related disorder, NR4A2-related disorder
Health Risk
RS767330388
Conflicting classifications of pathogenicity
Parkinson disease, late-onset, Inborn genetic diseases
Health Risk
RS769677341
Conflicting classifications of pathogenicity
Parkinson disease, late-onset, Parkinson disease
Health Risk
RS1553456695
Likely pathogenic
Epilepsy, Epilepsy
Health Risk
RS1573811478
Likely pathogenic
Health Risk
RS1686756273
Likely pathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
Health Risk
RS1686821540
Likely pathogenic
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS2105601199
Likely pathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
Health Risk
RS2105602706
Likely pathogenic
Health Risk
RS2105605019
Likely pathogenic
Neurodevelopmental delay, Neurodevelopmental delay
Health Risk
RS2468272048
Likely pathogenic
Developmental disorder, Developmental disorder
Health Risk
RS2468279150
Likely pathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143618355 | Health Risk | Conflicting classifications of pathogenicity | NR4A2-related disorder, NR4A2-related disorder |
| RS767330388 | Health Risk | Conflicting classifications of pathogenicity | Parkinson disease, late-onset, Inborn genetic diseases |
| RS769677341 | Health Risk | Conflicting classifications of pathogenicity | Parkinson disease, late-onset, Parkinson disease |
| RS1553456695 | Health Risk | Likely pathogenic | Epilepsy, Epilepsy |
| RS1573811478 | Health Risk | Likely pathogenic | — |
| RS1686756273 | Health Risk | Likely pathogenic | Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism |
| RS1686821540 | Health Risk | Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2105601199 | Health Risk | Likely pathogenic | Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism |
| RS2105602706 | Health Risk | Likely pathogenic | — |
| RS2105605019 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2468272048 | Health Risk | Likely pathogenic | Developmental disorder, Developmental disorder |
| RS2468279150 | Health Risk | Likely pathogenic | Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism |
| RS2468282575 | Health Risk | Likely pathogenic | Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism |
| RS2468285695 | Health Risk | Likely pathogenic | Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism |
| RS2468285722 | Health Risk | Likely pathogenic | Complex neurodevelopmental disorder, Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, Complex neurodevelopmental disorder |
| RS769178148 | Health Risk | Likely pathogenic | Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism |
| RS774629025 | Health Risk | Likely pathogenic | Inborn genetic diseases, Neurodevelopmental disorder, Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism |
| RS2105604954 | Health Risk | Pathogenic | Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism |
| RS2105605124 | Health Risk | Pathogenic | Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism |
| RS2105605264 | Health Risk | Pathogenic | Parkinson disease, late-onset, Parkinson disease |
| RS2105608859 | Health Risk | Pathogenic | Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism |
| RS2468286796 | Health Risk | Pathogenic | Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism |
| RS2468287811 | Health Risk | Pathogenic | Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism |