HSD3B2 Chromosome 1
Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
Upload your DNA to see your personal genotypes for variants in HSD3B2.
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 |
|---|---|---|---|
| RS114527791 | Health Risk | Conflicting classifications of pathogenicity | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS143758913 | Health Risk | Conflicting classifications of pathogenicity | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS150892928 | Health Risk | Conflicting classifications of pathogenicity | 3 beta-Hydroxysteroid dehydrogenase deficiency, Inborn genetic diseases, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS34412477 | Health Risk | Conflicting classifications of pathogenicity | 3 beta-Hydroxysteroid dehydrogenase deficiency, HSD3B2-related disorder, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS35486059 | Health Risk | Conflicting classifications of pathogenicity | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS35887327 | Health Risk | Conflicting classifications of pathogenicity | 3 beta-Hydroxysteroid dehydrogenase deficiency, HSD3B2-related disorder, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS371712928 | Health Risk | Conflicting classifications of pathogenicity | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS375047799 | Health Risk | Conflicting classifications of pathogenicity | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS376207606 | Health Risk | Conflicting classifications of pathogenicity | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS587628683 | Health Risk | Conflicting classifications of pathogenicity | 3 beta-Hydroxysteroid dehydrogenase deficiency, Congenital adrenal hyperplasia, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS6207 | Health Risk | Conflicting classifications of pathogenicity | 3 beta-Hydroxysteroid dehydrogenase deficiency, HSD3B2-related disorder, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS750286630 | Health Risk | Conflicting classifications of pathogenicity | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS751470493 | Health Risk | Conflicting classifications of pathogenicity | 3 beta-Hydroxysteroid dehydrogenase deficiency, HSD3B2-related disorder, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS75429891 | Health Risk | Conflicting classifications of pathogenicity | 3 beta-Hydroxysteroid dehydrogenase deficiency, HSD3B2-related disorder, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS755461071 | Health Risk | Conflicting classifications of pathogenicity | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS773331795 | Health Risk | Conflicting classifications of pathogenicity | 3 beta-Hydroxysteroid dehydrogenase deficiency, Inborn genetic diseases, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS778188253 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, 3 beta-Hydroxysteroid dehydrogenase deficiency, Inborn genetic diseases |
| RS781770416 | Health Risk | Conflicting classifications of pathogenicity | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS886045197 | Health Risk | Conflicting classifications of pathogenicity | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS1399005702 | Health Risk | Likely pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS1399398274 | Health Risk | Likely pathogenic | — |
| RS1570822744 | Health Risk | Likely pathogenic | — |
| RS1570823863 | Health Risk | Likely pathogenic | — |
| RS1651905495 | Health Risk | Likely pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS1651909230 | Health Risk | Likely pathogenic | — |
| RS1651911095 | Health Risk | Likely pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS2101349426 | Health Risk | Likely pathogenic | Hypospadias 1, X-linked, Hypospadias 1 |
| RS2526391147 | Health Risk | Likely pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency, HSD3B2-related disorder, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS2526391280 | Health Risk | Likely pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS2526391378 | Health Risk | Likely pathogenic | Congenital adrenal hyperplasia, Congenital adrenal hyperplasia |
| RS2526394528 | Health Risk | Likely pathogenic | — |
| RS28934880 | Health Risk | Likely pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS756663759 | Health Risk | Likely pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS121964897 | Health Risk | Pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS1248094870 | Health Risk | Pathogenic | Congenital adrenal hyperplasia, Congenital adrenal hyperplasia |
| RS1266831898 | Health Risk | Pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS1388517943 | Health Risk | Pathogenic | Congenital adrenal hyperplasia, Congenital adrenal hyperplasia |
| RS148200568 | Health Risk | Pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS1651890566 | Health Risk | Pathogenic | — |
| RS1651901764 | Health Risk | Pathogenic | — |
| RS2101343665 | Health Risk | Pathogenic | — |
| RS2101349412 | Health Risk | Pathogenic | — |
| RS2101349982 | Health Risk | Pathogenic | — |
| RS2101350040 | Health Risk | Pathogenic | — |
| RS2101350432 | Health Risk | Pathogenic | — |
| RS2101350566 | Health Risk | Pathogenic | — |
| RS2101350819 | Health Risk | Pathogenic | — |
| RS2526373039 | Health Risk | Pathogenic | — |
| RS2526373514 | Health Risk | Pathogenic | — |
| RS2526382945 | Health Risk | Pathogenic | — |