RORA Chromosome 15
RAR related orphan receptor A
Upload your DNA to see your personal genotypes for variants in RORA.
What This Gene Does
The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. Also, it has been shown to aid in the transcriptional regulation of some genes involved in circadian rhythm. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2014]
Gene Info
Gene Group
RAR related orphan receptors
Locus Type
gene with protein product
Location
15q22.2
Ensembl
ENSG00000069667
Associated Conditions (5)
Inborn genetic diseases
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
See cases
Neurodevelopmental disorder
Severe intellectual deficiency
Key Variants
RS201735416
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2065199547
Conflicting classifications of pathogenicity
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
Health Risk
RS2141319872
Conflicting classifications of pathogenicity
See cases, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Neurodevelopmental disorder
Health Risk
RS2542052131
Conflicting classifications of pathogenicity
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
Health Risk
RS539921893
Conflicting classifications of pathogenicity
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
Health Risk
RS759706334
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS760939030
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS1595874995
Likely pathogenic
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
Health Risk
RS1595889010
Likely pathogenic
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
Health Risk
RS2065374158
Likely pathogenic
Health Risk
RS2141286330
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2141286878
Likely pathogenic
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201735416 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2065199547 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia |
| RS2141319872 | Health Risk | Conflicting classifications of pathogenicity | See cases, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Neurodevelopmental disorder |
| RS2542052131 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia |
| RS539921893 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia |
| RS759706334 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS760939030 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS1595874995 | Health Risk | Likely pathogenic | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia |
| RS1595889010 | Health Risk | Likely pathogenic | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia |
| RS2065374158 | Health Risk | Likely pathogenic | — |
| RS2141286330 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2141286878 | Health Risk | Likely pathogenic | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia |
| RS2541965807 | Health Risk | Likely pathogenic | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia |
| RS2541966112 | Health Risk | Likely pathogenic | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia |
| RS2542049088 | Health Risk | Likely pathogenic | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia |
| RS2542193929 | Health Risk | Likely pathogenic | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia |
| RS1222860434 | Health Risk | Pathogenic | — |
| RS1555421544 | Health Risk | Pathogenic | — |
| RS1555423812 | Health Risk | Pathogenic | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia |
| RS1555427497 | Health Risk | Pathogenic | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia |
| RS1555427498 | Health Risk | Pathogenic | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia |
| RS1595874842 | Health Risk | Pathogenic | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia |
| RS2141337837 | Health Risk | Pathogenic | — |
| RS2541974207 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2541994504 | Health Risk | Pathogenic | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia |
| RS2542051635 | Health Risk | Pathogenic | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia |
| RS2542051691 | Health Risk | Pathogenic | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia |
| RS2542073001 | Health Risk | Pathogenic | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia |
| RS2542656408 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1057518981 | Health Risk | Pathogenic/Likely pathogenic | Severe intellectual deficiency, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Severe intellectual deficiency |
| RS1198203108 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |