Reviewed February 2010
What is the official name of the HSD3B2 gene?
The official name of this gene is “hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2.”
HSD3B2 is the gene's official symbol. The HSD3B2 gene is also known by other names, listed below.
What is the normal function of the HSD3B2 gene?
The HSD3B2 gene provides instructions for making 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. Cortisol has numerous functions such as maintaining energy and blood sugar levels, protecting the body from stress, and suppressing inflammation. Aldosterone is sometimes called the salt-retaining hormone because it regulates the amount of salt retained by the kidney. The retention of salt affects fluid levels and blood pressure. Androgens and estrogen are essential for normal sexual development and reproduction.
Does the HSD3B2 gene share characteristics with other genes?
The HSD3B2 gene belongs to a family of genes called SDR (short chain dehydrogenase/reductase superfamily).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
How are changes in the HSD3B2 gene related to health conditions?
- 3-beta-hydroxysteroid dehydrogenase deficiency - caused by mutations in the HSD3B2 gene
At least 37 mutations in the HSD3B2 gene have been found to cause 3β-HSD deficiency. Most of these mutations change single protein building blocks (amino acids) in the 3β-HSD enzyme, which typically reduces the activity of the enzyme. Mutations that allow the production of some functional enzyme, although at reduced levels, cause the less severe, non-salt-wasting or non-classic forms of 3β-HSD deficiency. Other mutations result in the production of an abnormally short, completely nonfunctional 3β-HSD enzyme, which causes the more severe, salt-wasting form of this condition. All types of 3β-HSD deficiency interfere with the production of a variety of hormones and lead to abnormalities of sexual development and maturation.
Where is the HSD3B2 gene located?
Cytogenetic Location: 1p13.1
Molecular Location on chromosome 1: base pairs 119,414,931 to 119,423,039
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/3284))
The HSD3B2 gene is located on the short (p) arm of chromosome 1 at position 13.1.
More precisely, the HSD3B2 gene is located from base pair 119,414,931 to base pair 119,423,039 on chromosome 1.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about HSD3B2?
You and your healthcare professional may find the following resources about HSD3B2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28HSD3B2%5BTIAB%5D%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/201810)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_HSD3B2.html)
- HGNC Gene Family: Short chain dehydrogenase/reductase superfamily (http://www.genenames.org/cgi-bin/genefamilies/set/743)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=5218)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3284)
What other names do people use for the HSD3B2 gene or gene products?
- 3 beta-HSD type II
- 3-beta-hydroxy-5-ene steroid dehydrogenase
- 3-beta-hydroxy-delta(5)-steroid dehydrogenase
- 3 beta-hydroxysteroid dehydrogenase 2
- 3 beta-hydroxysteroid dehydrogenase type II, delta 5-delta 4-isomerase type II, 3 beta-HSD type II
- 3 beta-ol dehydrogenase
- delta 5-delta 4-isomerase type II
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding HSD3B2?
adrenal glands ;
You may find definitions for these and many other terms in the Genetics Home Reference
- OMIM: 3-BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF (http://omim.org/entry/201810)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3284)
- Pang S, Carbunaru G, Haider A, Copeland KC, Chang YT, Lutfallah C, Mason JI. Carriers for type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency can only be identified by HSD3B2 genotype study and not by hormone test. Clin Endocrinol (Oxf). 2003 Mar;58(3):323-31. (http://www.ncbi.nlm.nih.gov/pubmed/12608938?dopt=Abstract)
- Pang S, Wang W, Rich B, David R, Chang YT, Carbunaru G, Myers SE, Howie AF, Smillie KJ, Mason JI. A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2002 Jun;87(6):2556-63. (http://www.ncbi.nlm.nih.gov/pubmed/12050213?dopt=Abstract)
- Pang S. Congenital adrenal hyperplasia owing to 3 beta-hydroxysteroid dehydrogenase deficiency. Endocrinol Metab Clin North Am. 2001 Mar;30(1):81-99, vi-vii. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11344940?dopt=Abstract)
- Simard J, Moisan AM, Morel Y. Congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4) isomerase deficiency. Semin Reprod Med. 2002 Aug;20(3):255-76. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12428206?dopt=Abstract)
- Simard J, Ricketts ML, Gingras S, Soucy P, Feltus FA, Melner MH. Molecular biology of the 3beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase gene family. Endocr Rev. 2005 Jun;26(4):525-82. Epub 2005 Jan 4. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15632317?dopt=Abstract)
- Welzel M, Wüstemann N, Simic-Schleicher G, Dörr HG, Schulze E, Shaikh G, Clayton P, Grötzinger J, Holterhus PM, Riepe FG. Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2008 Apr;93(4):1418-25. doi: 10.1210/jc.2007-1874. Epub 2008 Feb 5. (http://www.ncbi.nlm.nih.gov/pubmed/18252794?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.