| GENE NAME | SRD5A2 |
| CHROMOSOME | 2 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000277893 |
| UNIPROT ACCESSION NUMBER | None |
| GO MOLECULAR FUNCTION | ['amide binding', 'testosterone dehydrogenase [NAD(P)] activity', 'protein binding', 'oxidoreductase activity', 'cholestenone 5-alpha-reductase activity', '3-oxo-5-alpha-steroid 4-dehydrogenase activity', 'sterol 5-alpha reductase activity'] |
| ESSENTIAL IN MOUSE | None |
| PATHWAYS | hsa00140; hsa05215; R-HSA-1430728; R-HSA-193048; R-HSA-196071; R-HSA-556833; R-HSA-8957322 |
| 9 combinations linked to SRD5A2 | OLI1518; OLI1540; OLI1533; OLI401; OLI1527; OLI999; OLI300; OLI1003; OLI1546 |
| 6 variants linked to SRD5A2 | SRD5A2:p.Arg227Gln; SRD5A2:c.265C>G, p.Leu89Val; SRD5A2:c.680G>A, p.Arg227Gln; SRD5A2:c.537G>A, p.Arg179Ser; SRD5A2:c.704A>T, p.Tyr235Phe; SRD5A2:c.607G>A, p.Gly203Ser |
| 4 diseases linked to SRD5A2 | Non-syndromic posterior hypospadias; Androgen insensitivity syndrome; 46,XY disorder of sex development; 46,XY partial gonadal dysgenesis |