NR0B1 Chromosome X
Nuclear receptor subfamily 0 group B member 1
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What This Gene Does
This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Nuclear receptor subfamily 0 group B
Locus Type
gene with protein product
Location
Xp21.2
Ensembl
ENSG00000169297
Associated Conditions (10)
Inborn genetic diseases
Congenital adrenal hypoplasia
X-linked
46
XY sex reversal 2
NR0B1-related disorder
Mineralocorticoid deficiency
isolated
Nonpapillary renal cell carcinoma
Differences in sex development
Key Variants
RS1248710856
Conflicting classifications of pathogenicity
Inborn genetic diseases, Congenital adrenal hypoplasia, X-linked
Health Risk
RS1334705963
Conflicting classifications of pathogenicity
Congenital adrenal hypoplasia, X-linked, 46
Health Risk
RS140259346
Conflicting classifications of pathogenicity
Inborn genetic diseases, Congenital adrenal hypoplasia, X-linked
Health Risk
RS191365011
Conflicting classifications of pathogenicity
Congenital adrenal hypoplasia, X-linked, 46
Health Risk
RS193205940
Conflicting classifications of pathogenicity
Congenital adrenal hypoplasia, X-linked, 46
Health Risk
RS201996833
Conflicting classifications of pathogenicity
Congenital adrenal hypoplasia, X-linked, 46
Health Risk
RS377428336
Conflicting classifications of pathogenicity
Congenital adrenal hypoplasia, X-linked, 46
Health Risk
RS749226179
Conflicting classifications of pathogenicity
Congenital adrenal hypoplasia, X-linked, 46
Health Risk
RS753227889
Conflicting classifications of pathogenicity
Inborn genetic diseases, Congenital adrenal hypoplasia, X-linked
Health Risk
RS761749382
Conflicting classifications of pathogenicity
Inborn genetic diseases, Congenital adrenal hypoplasia, X-linked
Health Risk
RS761762294
Conflicting classifications of pathogenicity
Congenital adrenal hypoplasia, X-linked, 46
Health Risk
RS776059398
Conflicting classifications of pathogenicity
Congenital adrenal hypoplasia, X-linked, 46
Health Risk
All Variants (120)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2519051223 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS2519051351 | Health Risk | Pathogenic | NR0B1-related disorder, NR0B1-related disorder |
| RS2519051360 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, 46 |
| RS2519051604 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, 46 |
| RS2519051714 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, 46 |
| RS2519051723 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, 46 |
| RS2519051880 | Health Risk | Pathogenic | — |
| RS2519051933 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, 46 |
| RS2519051970 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, 46 |
| RS28935481 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS28935482 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS387907373 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS753734546 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS764476639 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS767828388 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, 46 |
| RS886041215 | Health Risk | Pathogenic | — |
| RS104894888 | Health Risk | Pathogenic/Likely pathogenic | Congenital adrenal hypoplasia, X-linked, 46 |
| RS1555972943 | Health Risk | Pathogenic/Likely pathogenic | Congenital adrenal hypoplasia, X-linked, 46 |
| RS2519049376 | Health Risk | Pathogenic/Likely pathogenic | NR0B1-related disorder, Congenital adrenal hypoplasia, X-linked |
| RS386134263 | Health Risk | Pathogenic/Likely pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |