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 |
|---|---|---|---|
| RS121434252 | Health Risk | Conflicting classifications of pathogenicity | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS1357268588 | Health Risk | Conflicting classifications of pathogenicity | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS145712014 | Health Risk | Conflicting classifications of pathogenicity | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS1488349870 | Health Risk | Conflicting classifications of pathogenicity | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS2148107447 | Health Risk | Conflicting classifications of pathogenicity | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS28383048 | Health Risk | Conflicting classifications of pathogenicity | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS550866120 | Health Risk | Conflicting classifications of pathogenicity | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS61748123 | Health Risk | Conflicting classifications of pathogenicity | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS61750388 | Health Risk | Conflicting classifications of pathogenicity | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS756405261 | Health Risk | Conflicting classifications of pathogenicity | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS756853742 | Health Risk | Conflicting classifications of pathogenicity | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS9332966 | Health Risk | Conflicting classifications of pathogenicity | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS973116318 | Health Risk | Conflicting classifications of pathogenicity | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, Differences in sex development, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS1553323036 | Health Risk | Likely pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS1553323488 | Health Risk | Likely 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 |
| RS1665963551 | Health Risk | Likely pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS2465708102 | Health Risk | Likely pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS2465708766 | Health Risk | Likely pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS564403641 | Health Risk | Likely pathogenic | — |
| RS781214178 | Health Risk | Likely pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS104893667 | Health Risk | Pathogenic | Micropenis, Micropenis |
| RS1057517829 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS1060499834 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS1200261940 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS121434244 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS121434248 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS121434250 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, SRD5A2-related disorder, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS121434251 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS121434253 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS1224600457 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS1340425455 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS1399412484 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS1477486919 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS1553323033 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS1553329427 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS1553329443 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS1667063572 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS1667066366 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS2148066893 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS2465619349 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS2465619515 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS2465624850 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS2465625226 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS2465625655 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS2465625746 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS2465625779 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS2465628816 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS2465628821 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS2465632611 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
| RS2465632802 | Health Risk | Pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |