NR0B1 Chromosome X
Nuclear receptor subfamily 0 group B member 1
Upload your DNA to see your personal genotypes for variants in NR0B1.
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 |
|---|---|---|---|
| RS1248710856 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Congenital adrenal hypoplasia, X-linked |
| RS1334705963 | Health Risk | Conflicting classifications of pathogenicity | Congenital adrenal hypoplasia, X-linked, 46 |
| RS140259346 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Congenital adrenal hypoplasia, X-linked |
| RS191365011 | Health Risk | Conflicting classifications of pathogenicity | Congenital adrenal hypoplasia, X-linked, 46 |
| RS193205940 | Health Risk | Conflicting classifications of pathogenicity | Congenital adrenal hypoplasia, X-linked, 46 |
| RS201996833 | Health Risk | Conflicting classifications of pathogenicity | Congenital adrenal hypoplasia, X-linked, 46 |
| RS377428336 | Health Risk | Conflicting classifications of pathogenicity | Congenital adrenal hypoplasia, X-linked, 46 |
| RS749226179 | Health Risk | Conflicting classifications of pathogenicity | Congenital adrenal hypoplasia, X-linked, 46 |
| RS753227889 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Congenital adrenal hypoplasia, X-linked |
| RS761749382 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Congenital adrenal hypoplasia, X-linked |
| RS761762294 | Health Risk | Conflicting classifications of pathogenicity | Congenital adrenal hypoplasia, X-linked, 46 |
| RS776059398 | Health Risk | Conflicting classifications of pathogenicity | Congenital adrenal hypoplasia, X-linked, 46 |
| RS777385334 | Health Risk | Conflicting classifications of pathogenicity | Congenital adrenal hypoplasia, X-linked, 46 |
| RS104894899 | Health Risk | Likely pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS1060499835 | Health Risk | Likely pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS1569268919 | Health Risk | Likely pathogenic | — |
| RS1926485824 | Health Risk | Likely pathogenic | Congenital adrenal hypoplasia, X-linked, 46 |
| RS1926565039 | Health Risk | Likely pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS2147007005 | Health Risk | Likely pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS2519051075 | Health Risk | Likely pathogenic | Congenital adrenal hypoplasia, X-linked, 46 |
| RS2519051128 | Health Risk | Likely pathogenic | — |
| RS2519051412 | Health Risk | Likely pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS2519052221 | Health Risk | Likely pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS2519052283 | Health Risk | Likely pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS373712795 | Health Risk | Likely pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS386134262 | Health Risk | Likely pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS104894886 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS104894887 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS104894889 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS104894890 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS104894891 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS104894892 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS104894894 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS104894895 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS104894896 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS104894897 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS104894898 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS104894900 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS104894906 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS104894908 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS1057517778 | Health Risk | Pathogenic | — |
| RS1064793475 | Health Risk | Pathogenic | — |
| RS1085307677 | Health Risk | Pathogenic | — |
| RS1131691564 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, 46 |
| RS1191878631 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, 46 |
| RS1214621343 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, 46 |
| RS1311271225 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS1324519932 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, 46 |
| RS132630327 | Health Risk | Pathogenic | Mineralocorticoid deficiency, isolated, Congenital adrenal hypoplasia |
| RS1489209061 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |