HSD3B2

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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.

AliasesHSD3B2, HSD3B, HSDB, SDR11E2, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

External IDsOMIM: 613890; MGI: 96233; HomoloGene: 69149; GeneCards: HSD3B2; OMA:HSD3B2 - orthologs

Chr.Chromosome 1 (human)^[1]

End119,423,035 bp^[1]

Quick facts Identifiers, Aliases ...

HSD3B2

Identifiers

Aliases

HSD3B2, HSD3B, HSDB, SDR11E2, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

External IDs

OMIM: 613890; MGI: 96233; HomoloGene: 69149; GeneCards: HSD3B2; OMA:HSD3B2 - orthologs

Gene location (Human)

Chr.	Chromosome 1 (human)^[1]

Band	1p12	Start	119,414,931 bp^[1]
Band	1p12	End	119,423,035 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 3 (mouse)^[2]

Band	3 F2.2\|3 42.89 cM	Start	98,759,510 bp^[2]
Band	3 F2.2\|3 42.89 cM	End	98,767,110 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

right adrenal gland

right adrenal cortex

left adrenal gland

left adrenal cortex

testicle

oocyte

mucosa of transverse colon

placenta

secondary oocyte

right coronary artery

Top expressed in

adrenal gland

cumulus cell

Gonadal ridge

adrenal medulla

ovary

testicle

urethra

spermatocyte

renal pelvis

embryo

More reference expression data

BioGPS


More reference expression data

Gene ontology
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
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
Biological process	androgen biosynthetic process glucocorticoid biosynthetic process mineralocorticoid biosynthetic process metabolism steroid biosynthetic process C21-steroid hormone metabolic process hippocampus development response to corticosterone
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


3284


15492

Ensembl


ENSG00000203859


ENSMUSG00000027871

UniProt


P26439 Q5QP01


P24815

RefSeq (mRNA)


NM_001166120 NM_000198


NM_008293 NM_001304800

RefSeq (protein)


NP_000189 NP_001159592


NP_001291729 NP_032319

Location (UCSC)

Chr 1: 119.41 – 119.42 Mb

Chr 3: 98.76 – 98.77 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Mutations in the HSD3B2 gene result in the condition congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.

References

Simard J, Durocher F, Mébarki F, et al. (1996). "Molecular biology and genetics of the 3 beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase gene family". J. Endocrinol. 150 Suppl: S189–207. doi:10.1677/joe.0.150S189 (inactive 12 July 2025). PMID 8943802.{{cite journal}}: CS1 maint: DOI inactive as of July 2025 (link)
Zachmann M, Forest MG, De Peretti E (1980). "3 beta-hydroxysteroid dehydrogenase deficiency. Follow-up study in a girl with pubertal bone age". Horm. Res. 11 (6): 292–302. doi:10.1159/000179067. PMID 295036.
Rhéaume E, Simard J, Morel Y, et al. (1993). "Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene". Nat. Genet. 1 (4): 239–45. doi:10.1038/ng0792-239. PMID 1363812. S2CID 26468595.
Lachance Y, Luu-The V, Verreault H, et al. (1992). "Structure of the human type II 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase (3 beta-HSD) gene: adrenal and gonadal specificity". DNA Cell Biol. 10 (10): 701–11. doi:10.1089/dna.1991.10.701. PMID 1741954.
Rhéaume E, Lachance Y, Zhao HF, et al. (1991). "Structure and expression of a new complementary DNA encoding the almost exclusive 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase in human adrenals and gonads". Mol. Endocrinol. 5 (8): 1147–57. doi:10.1210/mend-5-8-1147. PMID 1944309.
Morrison N, Nickson DA, McBride MW, et al. (1991). "Regional chromosomal assignment of human 3-beta-hydroxy-5-ene steroid dehydrogenase to 1p13.1 by non-isotopic in situ hybridisation". Hum. Genet. 87 (2): 223–5. doi:10.1007/BF00204189. PMID 2066113. S2CID 38702281.
Mébarki F, Sanchez R, Rhéaume E, et al. (1995). "Nonsalt-losing male pseudohermaphroditism due to the novel homozygous N100S mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene". J. Clin. Endocrinol. Metab. 80 (7): 2127–34. doi:10.1210/jcem.80.7.7608265. PMID 7608265.
Katsumata N, Tanae A, Yasunaga T, et al. (1995). "A novel missense mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency". Hum. Mol. Genet. 4 (4): 745–6. doi:10.1093/hmg/4.4.745. PMID 7633426.
Tajima T, Fujieda K, Nakae J, et al. (1995). "Molecular analysis of type II 3 beta-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3 beta-hydroxysteroid dehydrogenase deficiency". Hum. Mol. Genet. 4 (5): 969–71. doi:10.1093/hmg/4.5.969. PMID 7633460.
Sanchez R, Mébarki F, Rhéaume E, et al. (1995). "Functional characterization of the novel L108W and P186L mutations detected in the type II 3 beta-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia". Hum. Mol. Genet. 3 (9): 1639–45. doi:10.1093/hmg/3.9.1639. PMID 7833923.
Rhéaume E, Sanchez R, Mébarki F, et al. (1995). "Identification and characterization of the G15D mutation found in a male patient with 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency: alteration of the putative NAD-binding domain of type II 3 beta-HSD". Biochemistry. 34 (9): 2893–900. doi:10.1021/bi00009a020. PMID 7893703.
Rhéaume E, Sanchez R, Simard J, et al. (1994). "Molecular basis of congenital adrenal hyperplasia in two siblings with classical nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency". J. Clin. Endocrinol. Metab. 79 (4): 1012–8. doi:10.1210/jcem.79.4.7962268. PMID 7962268.
Russell AJ, Wallace AM, Forest MG, et al. (1994). "Mutation in the human gene for 3 beta-hydroxysteroid dehydrogenase type II leading to male pseudohermaphroditism without salt loss". J. Mol. Endocrinol. 12 (2): 225–37. doi:10.1677/jme.0.0120225. PMID 8060486.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Sanchez R, Rhéaume E, Laflamme N, et al. (1994). "Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency". J. Clin. Endocrinol. Metab. 78 (3): 561–7. doi:10.1210/jcem.78.3.8126127. PMID 8126127.
Mendonça BB, Russell AJ, Vasconcelos-Leite M, et al. (1994). "Mutation in 3 beta-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females". J. Mol. Endocrinol. 12 (1): 119–22. doi:10.1677/jme.0.0120119. PMID 8185809.
Chang YT, Kappy MS, Iwamoto K, et al. (1994). "Mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene in a patient with classic salt-wasting 3 beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia". Pediatr. Res. 34 (5): 698–700. doi:10.1203/00006450-199311000-00026. PMID 8284113. S2CID 25960239.
Simard J, Rhéaume E, Sanchez R, et al. (1993). "Molecular basis of congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency". Mol. Endocrinol. 7 (5): 716–28. doi:10.1210/mend.7.5.8316254. PMID 8316254.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.

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HSD3B2

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