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Gene Review

HSD17B2  -  hydroxysteroid (17-beta) dehydrogenase 2

Homo sapiens

Synonyms: 17-beta-HSD 2, 17-beta-hydroxysteroid dehydrogenase type 2, 20 alpha-hydroxysteroid dehydrogenase, 20-alpha-HSD, E2DH, ...
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Disease relevance of HSD17B2

  • In a multivariate model, HSD17 vlV A->C was also significantly associated with endometriosis (P = .002) [1].
  • Intratumoral activity of the progesterone-dependent enzyme 17 beta-hydroxysteroid dehydrogenase (E2DH) was measured in 114 patients with breast cancer (33 pre- and 81 postmenopausal) before and/or after 8 days of a progestin treatment (lynestrenol, 10 mg/day) [2].
  • 17 beta-Hydroxysteroid dehydrogenase (E2-DH) activity was characterized on a semipurified microsomal preparation of human meningioma tissue (mean Km of 2 microM and Vmax of 500 pmol/mg protein/10 min) and then assayed in 49 meningioma specimens with high progesterone receptor and low estrogen receptor levels [3].
  • The fusion protein of pHSD12-07 produced by Escherichia coli reacted with a specific polyclonal antibody generated against rat ovarian 20 alpha-HSD [4].
  • While administration of progestins to some patients with endometrial carcinoma resulted in increased endometrial E2DH activity, efforts to induce this enzyme, in vitro, in these tumors have been unsuccessful [5].

High impact information on HSD17B2

  • The gene for hereditary breast-ovarian cancer, BRCA1, maps distal to EDH17B2 in chromosome region 17q12-q21 [6].
  • The highest percentage of loss of heterozygosity (LOH) at 16q was also found within this area at loci HSD17B2 and D16S422 located at 16q24.1-q24 [7].
  • Intratumoral measurement of the progesterone-dependent enzyme E2DH in breast cancer after progestin treatment could therefore provide a fine and reliable index of the presence and functional character of PR and hormone dependency of the tumor [2].
  • In postmenopausal patients, E2DH was higher after progestin treatment [2].
  • However, E2DH stimulation by lynestrenol depended on receptor levels [2].

Chemical compound and disease context of HSD17B2


Biological context of HSD17B2


Anatomical context of HSD17B2

  • Utilizing RT-PCR, transcripts for 17 beta HSD2 were not detectable in cortex, stroma, (pre-or postmenopausal), hilum, or follicles, but were present in RNA derived from the corpora lutea and fetal ovary [13].
  • All three cell lines exhibited marked amounts of 17 beta HSD4 mRNA species, whilst even greater amounts of 17 beta HSD2 transcript were found in PC3 cells only [14].
  • Because lung fibroblasts of subjects with low 17 beta-HSD type 2 expression levels are likely to be exposed to higher levels of androgens, an allelic variation of the 17 beta-HSD-2 gene is suspected, which would result in familial incidence of respiratory distress [15].
  • 17 beta HSD2 immunoreactivity was localized almost exclusively to the absorptive epithelium, which may be involved in the inactivation of excessive endogenous and exogenous active sex steroids [16].
  • 17 beta HSD2 mRNA was most abundant in the small intestine [16].

Associations of HSD17B2 with chemical compounds


Other interactions of HSD17B2


Analytical, diagnostic and therapeutic context of HSD17B2

  • To locate the HSD17B2 gene, the novel dinucleotide CA repeat sequence found 571 bp downstream from the end of exon 1 was genotyped into eight CEPH reference families by PCR [10].
  • The enzyme, which had been partially purified by affinity chromatography, fractionated on a preparative electrophoresis gel to a homogeneous preparation containing both estradiol-17 beta dehydrogenase and 20 alpha-hydroxysteroid dehydrogenase activities in a ratio of approximately 100:1 [21].
  • Using hp E2DH-36 cDNA as a probe for in situ hybridization of translocated chromosomes, the human E2DH gene was localized to the q11-q12 region of chromosome 17 [12].
  • To search for a unique 20 alpha-hydroxysteroid dehydrogenase, human placental villous tissue, homogenized in three different buffer systems, was fractionated by differential centrifugation, and the 17 beta- and 20 alpha-activities were measured by radioisotope conversion assay [22].
  • Molecular cloning and expression of an abundant rabbit ovarian protein with 20 alpha-hydroxysteroid dehydrogenase activity [23].


  1. Ten estrogen-related polymorphisms and endometriosis: a study of multiple gene-gene interactions. Huber, A., Keck, C.C., Hefler, L.A., Schneeberger, C., Huber, J.C., Bentz, E.K., Tempfer, C.B. Obstetrics and gynecology. (2005) [Pubmed]
  2. Estradiol 17 beta-hydroxysteroid dehydrogenase, a marker of breast cancer hormone dependency. Fournier, S., Brihmat, F., Durand, J.C., Sterkers, N., Martin, P.M., Kuttenn, F., Mauvais-Jarvis, P. Cancer Res. (1985) [Pubmed]
  3. Biochemical characterization of 17 beta-hydroxysteroid dehydrogenase in human meningioma. Martin, P.M., Rieg, A.M., Fournier, S., Magdelenat, H., Hassoun, J., Pertuiset, B., Poisson, M., Vigouroux, R.P., Toga, M. Clinical neuropharmacology. (1984) [Pubmed]
  4. Molecular cloning of cDNA for rat ovarian 20 alpha-hydroxysteroid dehydrogenase (HSD1). Miura, R., Shiota, K., Noda, K., Yagi, S., Ogawa, T., Takahashi, M. Biochem. J. (1994) [Pubmed]
  5. Failure of progestins to induce estradiol dehydrogenase activity in endometrial carcinoma, in vitro. Satyaswaroop, P.G., Mortel, R. Cancer Res. (1982) [Pubmed]
  6. The gene for hereditary breast-ovarian cancer, BRCA1, maps distal to EDH17B2 in chromosome region 17q12-q21. Tonin, P., Serova, O., Simard, J., Lenoir, G., Feunteun, J., Morgan, K., Lynch, H., Narod, S. Hum. Mol. Genet. (1994) [Pubmed]
  7. Loss of heterozygosity at 16q24.1-q24.2 is significantly associated with metastatic and aggressive behavior of prostate cancer. Elo, J.P., Härkönen, P., Kyllönen, A.P., Lukkarinen, O., Poutanen, M., Vihko, R., Vihko, P. Cancer Res. (1997) [Pubmed]
  8. 17 beta-estradiol dehydrogenase (E2DH) activity in T47D cells. Malet, C., Vacca, A., Kuttenn, F., Mauvais-Jarvis, P. J. Steroid Biochem. Mol. Biol. (1991) [Pubmed]
  9. Insulin-like growth factor type I and insulin-like growth factor type II stimulate oestradiol-17 beta hydroxysteroid dehydrogenase (reductive) activity in breast cancer cells. Singh, A., Reed, M.J. J. Endocrinol. (1991) [Pubmed]
  10. Mapping of the HSD17B2 gene encoding type II 17 beta-hydroxysteroid dehydrogenase close to D16S422 on chromosome 16q24.1-q24.2. Durocher, F., Morissette, J., Labrie, Y., Labrie, F., Simard, J. Genomics (1995) [Pubmed]
  11. 17 beta-hydroxysteroid and 20 alpha-hydroxysteroid dehydrogenase activities of human placental microsomes: kinetic evidence for two enzymes differing in substrate specificity. Blomquist, C.H., Lindemann, N.J., Hakanson, E.Y. Arch. Biochem. Biophys. (1985) [Pubmed]
  12. Characterization of two mRNA species encoding human estradiol 17 beta-dehydrogenase and assignment of the gene to chromosome 17. Labrie, F., Luu-The, V., Labrie, C., Bérubé, D., Couet, J., Zhao, H.F., Gagné, R., Simard, J. J. Steroid Biochem. (1989) [Pubmed]
  13. Human ovarian expression of 17 beta-hydroxysteroid dehydrogenase types 1, 2, and 3. Zhang, Y., Word, R.A., Fesmire, S., Carr, B.R., Rainey, W.E. J. Clin. Endocrinol. Metab. (1996) [Pubmed]
  14. Molecular expression of 17 beta hydroxysteroid dehydrogenase types in relation to their activity in intact human prostate cancer cells. Carruba, G., Adamski, J., Calabrò, M., Miceli, M.D., Cataliotti, A., Bellavia, V., Lo Bue, A., Polito, L., Castagnetta, L.A. Mol. Cell. Endocrinol. (1997) [Pubmed]
  15. Androgen inactivation in human lung fibroblasts: variations in levels of 17 beta-hydroxysteroid dehydrogenase type 2 and 5 alpha-reductase activity compatible with androgen inactivation. Provost, P.R., Blomquist, C.H., Drolet, R., Flamand, N., Tremblay, Y. J. Clin. Endocrinol. Metab. (2002) [Pubmed]
  16. 17 beta-Hydroxysteroid dehydrogenase type 2 expression and enzyme activity in the human gastrointestinal tract. Sano, T., Hirasawa, G., Takeyama, J., Darnel, A.D., Suzuki, T., Moriya, T., Kato, K., Sekine, H., Ohara, S., Shimosegawa, T., Nakamura, J., Yoshihama, M., Harada, N., Sasano, H. Clin. Sci. (2001) [Pubmed]
  17. Expression cloning and characterization of human 17 beta-hydroxysteroid dehydrogenase type 2, a microsomal enzyme possessing 20 alpha-hydroxysteroid dehydrogenase activity. Wu, L., Einstein, M., Geissler, W.M., Chan, H.K., Elliston, K.O., Andersson, S. J. Biol. Chem. (1993) [Pubmed]
  18. Endometrial and pituitary responses to the steroidal antiprogestin RU 486 in postmenopausal women. Gravanis, A., Schaison, G., George, M., de Brux, J., Satyaswaroop, P.G., Baulieu, E.E., Robel, P. J. Clin. Endocrinol. Metab. (1985) [Pubmed]
  19. Variants in Estrogen Biosynthesis Genes, Sex Steroid Hormone Levels, and Endometrial Cancer: A HuGE Review. Olson, S.H., Bandera, E.V., Orlow, I. Am. J. Epidemiol. (2007) [Pubmed]
  20. Cloning and tissue distribution of the human 11 beta-hydroxysteroid dehydrogenase type 2 enzyme. Albiston, A.L., Obeyesekere, V.R., Smith, R.E., Krozowski, Z.S. Mol. Cell. Endocrinol. (1994) [Pubmed]
  21. Study of human placental estradiol-17 beta dehydrogenase/20 alpha-hydroxysteroid dehydrogenase by preparative disc-gel electrophoresis. Tobias, B., Strickler, R.C. Steroids (1981) [Pubmed]
  22. 20 alpha-Hydroxysteroid dehydrogenase and 17 beta-estradiol dehydrogenase localize in cytosol of human term placenta. Strickler, R.C., Tobias, B. Am. J. Physiol. (1982) [Pubmed]
  23. Molecular cloning and expression of an abundant rabbit ovarian protein with 20 alpha-hydroxysteroid dehydrogenase activity. Lacy, W.R., Washenick, K.J., Cook, R.G., Dunbar, B.S. Mol. Endocrinol. (1993) [Pubmed]
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