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 |
|---|---|---|---|
| RS1555972632 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS1555972640 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS1555972641 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS1555972655 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS1555972666 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS1555972957 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS1555972994 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS1555973010 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, 46 |
| RS1555973021 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS1555973031 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS1555973045 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS1555973058 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS1555973063 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS1555973091 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS1555973092 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS1555973115 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS1555973117 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS1555973119 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS1555973120 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS1555973131 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, 46 |
| RS1555973132 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS1555973147 | Health Risk | Pathogenic | — |
| RS1555973172 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, 46 |
| RS1555973189 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS1569268048 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS1569268070 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, 46 |
| RS1569268878 | Health Risk | Pathogenic | — |
| RS1569268976 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, NR0B1-related disorder |
| RS1569269179 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS1569269195 | Health Risk | Pathogenic | — |
| RS1601792367 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS1926563553 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, 46 |
| RS1926565370 | Health Risk | Pathogenic | — |
| RS1926565907 | Health Risk | Pathogenic | 46, XY sex reversal 2, Congenital adrenal hypoplasia |
| RS1926575027 | Health Risk | Pathogenic | NR0B1-related disorder, NR0B1-related disorder |
| RS1926599738 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS1926602170 | Health Risk | Pathogenic | 46, XY sex reversal 2, Congenital adrenal hypoplasia |
| RS2147006202 | Health Risk | Pathogenic | — |
| RS2147006209 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, 46 |
| RS2147007205 | Health Risk | Pathogenic | — |
| RS2147007353 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, 46 |
| RS2147007424 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS2519049277 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS2519049304 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS2519049357 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, 46 |
| RS2519049362 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, 46 |
| RS2519050843 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, 46 |
| RS2519050868 | Health Risk | Pathogenic | NR0B1-related disorder, NR0B1-related disorder |
| RS2519051116 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |
| RS2519051194 | Health Risk | Pathogenic | Congenital adrenal hypoplasia, X-linked, Congenital adrenal hypoplasia |