HSD3B2
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
| EntrezGene | 3284 |
| PheGenI | 3284 |
| VariationViewer | 3284 |
| ClinVar | HSD3B2 |
| GeneCards | HSD3B2 |
| dbSNP | 3284 |
| Diseases | HSD3B2 |
| SADR | 3284 |
| HugeNav | 3284 |
| wikipedia | HSD3B2 |
| HSD3B2 | |
| gopubmed | HSD3B2 |
| EVS | HSD3B2 |
| HEFalMp | HSD3B2 |
| MyGene2 | HSD3B2 |
| 23andMe | HSD3B2 |
| UniProt | P26439 |
| Ensembl | ENSG00000203859 |
| OMIM | 613890 |
| # SNPs | 17 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| i5003810 | |||
| i5003811 | |||
| i5003813 | |||
| i5003815 | |||
| rs121964896 | 7 | 119,422,243 | |
| rs121964897 | 7 | 119,422,523 | |
| rs1819698 | 0 | 119,422,896 | |
| rs2854964 | 0 | 119,418,756 | |
| rs28934880 | 7 | 119,415,448 | |
| rs767167623 | 7 | 119,422,368 | |
| rs770815049 | 7 | 119,422,056 | |
| rs80358216 | 7 | 119,422,013 | |
| rs80358217 | 7 | 119,422,246 | |
| rs80358218 | 7 | 119,422,620 | |
| rs80358219 | 7 | 119,421,925 | |
| rs80358220 | 7 | 119,422,165 | |
| rs80358221 | 7 | 119,422,277 |
The HSD3B2 gene encodes the 3-beta-hydroxysteroid dehydrogenase (3β-HSD) enzyme. This enzyme is found in the gonads, which are the ovaries in females and testes in males, and in the adrenal glands, which are located on top of the kidneys. Within these hormone-producing tissues, the 3β-HSD enzyme is necessary for the production of many hormones, including cortisol, aldosterone, androgens, and estrogen.Genetics Home Reference
HSD3B2 mutations may cause 3-beta-hydroxysteroid dehydrogenase (3BHSD) deficiency, a form of congenital adrenal hyperplasia. ClinVar mutations indicated as pathogenic for 3BHSD include:
