HSD3B2 Chromosome 1
Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
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What This Gene Does
The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
Short chain dehydrogenase/reductase superfamily
Locus Type
gene with protein product
Location
1p12
Ensembl
ENSG00000203859
Associated Conditions (6)
3 beta-Hydroxysteroid dehydrogenase deficiency
Inborn genetic diseases
HSD3B2-related disorder
Congenital adrenal hyperplasia
Hypospadias 1
X-linked
Key Variants
RS114527791
Conflicting classifications of pathogenicity
3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
Health Risk
RS143758913
Conflicting classifications of pathogenicity
3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
Health Risk
RS150892928
Conflicting classifications of pathogenicity
3 beta-Hydroxysteroid dehydrogenase deficiency, Inborn genetic diseases, 3 beta-Hydroxysteroid dehydrogenase deficiency
Health Risk
RS34412477
Conflicting classifications of pathogenicity
3 beta-Hydroxysteroid dehydrogenase deficiency, HSD3B2-related disorder, 3 beta-Hydroxysteroid dehydrogenase deficiency
Health Risk
RS35486059
Conflicting classifications of pathogenicity
3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
Health Risk
RS35887327
Conflicting classifications of pathogenicity
3 beta-Hydroxysteroid dehydrogenase deficiency, HSD3B2-related disorder, 3 beta-Hydroxysteroid dehydrogenase deficiency
Health Risk
RS371712928
Conflicting classifications of pathogenicity
3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
Health Risk
RS375047799
Conflicting classifications of pathogenicity
3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
Health Risk
RS376207606
Conflicting classifications of pathogenicity
3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
Health Risk
RS587628683
Conflicting classifications of pathogenicity
3 beta-Hydroxysteroid dehydrogenase deficiency, Congenital adrenal hyperplasia, 3 beta-Hydroxysteroid dehydrogenase deficiency
Health Risk
RS6207
Conflicting classifications of pathogenicity
3 beta-Hydroxysteroid dehydrogenase deficiency, HSD3B2-related disorder, 3 beta-Hydroxysteroid dehydrogenase deficiency
Health Risk
RS750286630
Conflicting classifications of pathogenicity
3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
Health Risk
All Variants (82)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2526383039 | Health Risk | Pathogenic | — |
| RS2526391252 | Health Risk | Pathogenic | — |
| RS2526391994 | Health Risk | Pathogenic | — |
| RS2526392189 | Health Risk | Pathogenic | — |
| RS2526392374 | Health Risk | Pathogenic | — |
| RS2526392619 | Health Risk | Pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS2526392908 | Health Risk | Pathogenic | — |
| RS754609778 | Health Risk | Pathogenic | Congenital adrenal hyperplasia, 3 beta-Hydroxysteroid dehydrogenase deficiency, Congenital adrenal hyperplasia |
| RS756607591 | Health Risk | Pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency, Congenital adrenal hyperplasia, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS757033996 | Health Risk | Pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS759383948 | Health Risk | Pathogenic | — |
| RS762479018 | Health Risk | Pathogenic | Congenital adrenal hyperplasia, 3 beta-Hydroxysteroid dehydrogenase deficiency, HSD3B2-related disorder |
| RS765335418 | Health Risk | Pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS765547422 | Health Risk | Pathogenic | Congenital adrenal hyperplasia, Congenital adrenal hyperplasia |
| RS765602803 | Health Risk | Pathogenic | — |
| RS766474996 | Health Risk | Pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS767167623 | Health Risk | Pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS770815049 | Health Risk | Pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS776656223 | Health Risk | Pathogenic | — |
| RS776761493 | Health Risk | Pathogenic | — |
| RS80358216 | Health Risk | Pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS80358218 | Health Risk | Pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS80358220 | Health Risk | Pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency, Congenital adrenal hyperplasia, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS2101350289 | Health Risk | Pathogenic/Likely pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS2526393548 | Health Risk | Pathogenic/Likely pathogenic | Congenital adrenal hyperplasia, Congenital adrenal hyperplasia |
| RS760846678 | Health Risk | Pathogenic/Likely pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS767128094 | Health Risk | Pathogenic/Likely pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency, Congenital adrenal hyperplasia, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS781213951 | Health Risk | Pathogenic/Likely pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency, HSD3B2-related disorder, Congenital adrenal hyperplasia |
| RS80358217 | Health Risk | Pathogenic/Likely pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency, Congenital adrenal hyperplasia, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS80358219 | Health Risk | Pathogenic/Likely pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS80358221 | Health Risk | Pathogenic/Likely pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency, Congenital adrenal hyperplasia, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS905880501 | Health Risk | Pathogenic/Likely pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |