HSD3B2

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] 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] 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
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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.

References

1. GRCh38: Ensembl release 89: ENSG00000203859 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000027871 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: HSD3B2 Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2".
6. Pelletier G, Dupont E, Simard J, Luu-The V, Bélanger A, Labrie F (October 1992). "Ontogeny and subcellular localization of 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) in the human and rat adrenal, ovary and testis". J. Steroid Biochem. Mol. Biol. 43 (5): 451–67. doi:10.1016/0960-0760(92)90084-V. PMID   1390295. S2CID   53250659.

Further reading

• 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.
• 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.