HSD3B2 is a human gene that encodes for 3beta-hydroxysteroid dehydrogenase/delta(5)-delta(4)isomerase type II or hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2.[5] It is expressed principally in steroidogenic tissues and is essential for steroid hormone production.[6] A notable exception is the placenta, where HSD3B1 is critical for progesterone production by this tissue.
| HSD3B2 |
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| Identifiers |
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| Aliases | HSD3B2, HSD3B, HSDB, SDR11E2, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
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| External IDs | OMIM: 613890 MGI: 96233 HomoloGene: 69149 GeneCards: HSD3B2 |
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| Gene location (Human) |
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 | | Chr. | Chromosome 1 (human)[1] |
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| | Band | 1p12 | Start | 119,414,931 bp[1] |
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| End | 119,423,035 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 3 (mouse)[2] |
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| | Band | 3 F2.2|3 42.89 cM | Start | 98,852,194 bp[2] |
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| End | 98,859,794 bp[2] |
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| RNA expression pattern |
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 | | More reference expression data |
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| Gene ontology |
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| Molecular function | • oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
• isomerase activity
• catalytic activity
• oxidoreductase activity
• 3-beta-hydroxy-delta5-steroid dehydrogenase activity
• steroid delta-isomerase activity
• cholesterol dehydrogenase activity
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| Cellular component | • integral component of membrane
• endoplasmic reticulum membrane
• mitochondrial membranes
• membrane
• mitochondrial intermembrane space
• smooth endoplasmic reticulum membrane
• endoplasmic reticulum
• mitochondrion
• mitochondrial inner membrane
• intracellular membrane-bounded organelle
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| Biological process | • androgen biosynthetic process
• glucocorticoid biosynthetic process
• mineralocorticoid biosynthetic process
• metabolism
• oxidation-reduction process
• steroid biosynthetic process
• C21-steroid hormone metabolic process
• hippocampus development
• response to corticosterone
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| Sources:Amigo / QuickGO |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | | |
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| RefSeq (protein) | | |
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| Location (UCSC) | Chr 1: 119.41 – 119.42 Mb | Chr 3: 98.85 – 98.86 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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Mutations in the HSD3B2 gene result in the condition congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.
HSD3B2 is a human gene that encodes for 3beta-hydroxysteroid dehydrogenase/delta(5)-delta(4)isomerase type II or hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2.[5] It is expressed principally in steroidogenic tissues and is essential for steroid hormone production.[6] A notable exception is the placenta, where HSD3B1 is critical for progesterone production by this tissue.
Mutations in the HSD3B2 gene result in the condition congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.
