SRD5A2 Chromosome 2
Steroid 5 alpha-reductase 2
Upload your DNA to see your personal genotypes for variants in SRD5A2.
What This Gene Does
This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Steroid 5-alpha reductase family
Locus Type
gene with protein product
Location
2p23.1
Ensembl
ENSG00000277893
Associated Conditions (7)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Differences in sex development
Micropenis
SRD5A2-related disorder
See cases
Urogenital tract malformation
Autism spectrum disorder
Key Variants
RS121434252
Conflicting classifications of pathogenicity
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Health Risk
RS1357268588
Conflicting classifications of pathogenicity
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Health Risk
RS145712014
Conflicting classifications of pathogenicity
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Health Risk
RS1488349870
Conflicting classifications of pathogenicity
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Health Risk
RS2148107447
Conflicting classifications of pathogenicity
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Health Risk
RS28383048
Conflicting classifications of pathogenicity
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Health Risk
RS550866120
Conflicting classifications of pathogenicity
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Health Risk
RS61748123
Conflicting classifications of pathogenicity
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Health Risk
RS61750388
Conflicting classifications of pathogenicity
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Health Risk
RS756405261
Conflicting classifications of pathogenicity
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Health Risk
RS756853742
Conflicting classifications of pathogenicity
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Health Risk
RS9332966
Conflicting classifications of pathogenicity
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Health Risk
All Variants (91)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2465633048 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS2465708443 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS2465708465 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS2465708568 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS2465708615 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS2465708621 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS2465708830 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS267599353 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS368386747 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS534671822 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS566562286 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS587776566 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS587776567 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS61748127 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS748899308 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS750444774 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS761824859 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS762483550 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS772283403 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, See cases, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS777711528 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS782032018 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS886039748 | Health Risk | Pathogenic | — |
| RS9332960 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, SRD5A2-related disorder, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS1186430097 | Health Risk | Pathogenic/Likely pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS121434245 | Health Risk | Pathogenic/Likely pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, Urogenital tract malformation, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS121434246 | Health Risk | Pathogenic/Likely pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS121434247 | Health Risk | Pathogenic/Likely pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, SRD5A2-related disorder, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS121434249 | Health Risk | Pathogenic/Likely pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, Differences in sex development, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS1665904910 | Health Risk | Pathogenic/Likely pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS201175894 | Health Risk | Pathogenic/Likely pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS61750397 | Health Risk | Pathogenic/Likely pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS747672984 | Health Risk | Pathogenic/Likely pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS759318152 | Health Risk | Pathogenic/Likely pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS759561106 | Health Risk | Pathogenic/Likely pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS763296857 | Health Risk | Pathogenic/Likely pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS764433016 | Health Risk | Pathogenic/Likely pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, Differences in sex development, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS767564684 | Health Risk | Pathogenic/Likely pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS767595335 | Health Risk | Pathogenic/Likely pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS9332961 | Health Risk | Pathogenic/Likely pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS9332964 | Health Risk | Pathogenic/Likely pathogenic | Micropenis, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, Autism spectrum disorder |
| RS9332967 | Health Risk | Pathogenic/Likely pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, SRD5A2-related disorder, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |