RORB Chromosome 9
RAR related orphan receptor B
Upload your DNA to see your personal genotypes for variants in RORB.
What This Gene Does
The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It is a DNA-binding protein that 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, and to help regulate the expression of some genes involved in circadian rhythm. [provided by RefSeq, Feb 2014]
Gene Info
Gene Group
RAR related orphan receptors
Locus Type
gene with protein product
Location
9q21.13
Ensembl
ENSG00000198963
Associated Conditions (8)
Inborn genetic diseases
Seizure
Epilepsy
idiopathic generalized
susceptibility to
15
RORB-related disorder
Neurodevelopmental delay
Key Variants
RS1168363417
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1182545971
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1255360497
Conflicting classifications of pathogenicity
Health Risk
RS140817351
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143063509
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144622748
Conflicting classifications of pathogenicity
Seizure, Inborn genetic diseases, Seizure
Health Risk
RS145736840
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS151121778
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199713370
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS202240086
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2118433165
Conflicting classifications of pathogenicity
Epilepsy, idiopathic generalized, susceptibility to
Health Risk
RS2118516548
Conflicting classifications of pathogenicity
Health Risk
All Variants (71)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2118414471 | Health Risk | Pathogenic | — |
| RS2118433425 | Health Risk | Pathogenic | Epilepsy, idiopathic generalized, susceptibility to |
| RS2118463065 | Health Risk | Pathogenic | — |
| RS2118510935 | Health Risk | Pathogenic | — |
| RS2118545746 | Health Risk | Pathogenic | — |
| RS2489556719 | Health Risk | Pathogenic | — |
| RS2489583296 | Health Risk | Pathogenic | — |
| RS2489583468 | Health Risk | Pathogenic | — |
| RS2489583944 | Health Risk | Pathogenic | — |
| RS2489584226 | Health Risk | Pathogenic | — |
| RS2489584321 | Health Risk | Pathogenic | — |
| RS2489584567 | Health Risk | Pathogenic | — |
| RS2489626107 | Health Risk | Pathogenic | — |
| RS2489626297 | Health Risk | Pathogenic | — |
| RS2489639626 | Health Risk | Pathogenic | Epilepsy, idiopathic generalized, susceptibility to |
| RS2489648829 | Health Risk | Pathogenic | — |
| RS2490005867 | Health Risk | Pathogenic | — |
| RS761279421 | Health Risk | Pathogenic | — |
| RS869312971 | Health Risk | Pathogenic | Inborn genetic diseases, Epilepsy, idiopathic generalized |
| RS1563959514 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, idiopathic generalized, susceptibility to |
| RS2118433023 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, idiopathic generalized, susceptibility to |