| GENE NAME | HSD3B2 |
| CHROMOSOME | 1 |
| ENSEMBL ID | ENSG00000203859 |
| ENTREZ ID | 3284 |
| UNIPROT ACCESSION NUMBER | P26439 |
| GO MOLECULAR FUNCTION | cholesterol dehydrogenase activity; catalytic activity; isomerase activity; 3-beta-hydroxy-delta5-steroid dehydrogenase activity; steroid delta-isomerase activity; oxidoreductase activity |
| ESSENTIAL IN MOUSE | None |
| PATHWAYS | hsa01100; hsa01100; hsa04934; hsa04934; R-HSA-1430728; R-HSA-196071; hsa04927; hsa04927; R-HSA-8957322; R-HSA-193048; R-HSA-194002; hsa04913; hsa04913; hsa04925; hsa04925; hsa00140; hsa00140; R-HSA-193993; R-HSA-556833 |
| 2 combinations linked to HSD3B2 | OLI601; OLI300 |
| 2 variants linked to HSD3B2 | HSD3B2:p.Ala10Thr; HSD3B2:c.707T>C, p.Leu236Ser |
| 2 diseases linked to HSD3B2 | Non-syndromic posterior hypospadias; Disorder of sex development |