Property Summary

NCBI Gene PubMed Count 90
PubMed Score 106.64
PubTator Score 86.44

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
adrenocortical carcinoma -3.439 3.7e-03
colon cancer -2.500 1.3e-02
ulcerative colitis -2.100 7.4e-05
psoriasis -1.800 5.1e-08

MLP Assay (1)

AID Type Active / Inconclusive / Inactive Description
624314 other 0 / 0 / 2 Late stage counterscreen for inhibitors of the orphan nuclear receptor subfamily 0, group B, member 1 (DAX1; NR0B1): absorbance-based cell-based assay to identify inhibitors of the DAX-1 target gene, 3B-HSD (3 beta-hydroxysteroid dehydrogenase)

Gene RIF (62)

PMID Text
26079780 Patients with HSD3B2 deficiency and 21-hydroxylase deficiency suffer similar morbid complications from under- and overtreatment, but HSD3B2 deficiency is associated with a distinctive pattern of sex steroid dysmetabolism.
25458695 HSD3B1 is involved in aldosterone production, despite its lower levels of expression compared with HSD3B2, and also possibly associated with KCNJ5 mutation in aldosterone-producing adenoma.
25319929 Results indicate that orexin-A significantly enhanced the expression of 3beta-hydroxysteroid dehydrogenase (3beta-HSD) and the production of cortisol, and increased the phosphorylation of AKT protein in the NCI-H295R adrenocortical cells.
24832628 both area and ratio of 3betaHSD and CYB5A double positive cells, which could represent the hybrid cells of zona fasciculate and zona reticularis, are correlated with adrenal development and could influence age-related serum androstenedione levels.
24244276 the CYP11A1, CYP17A1, HSD3B2, SRD5A2, and HSD17B6 mRNA levels in metastases were significantly lower.
24006038 Risk-conferring genetic variations in the HSD3beta gene influenced susceptibility of primary aldosteronism. Concomitant presence of rs6203 CC and rs12410453 GA genotypes synergistically increased aldosterone-to-renin ratio
23450050 Interleukin-4 and prostaglandin E2 synergistically up-regulate 3beta-hydroxysteroid dehydrogenase type 2 in endometrioma stromal cells.
23284679 HSD3B SNP and gene-gene interactions in genetic susceptibility to bladder cancer
23257735 low ratio of cytochrome P450 family 17/3 beta-hydroxysteroid dehydrogenase type II with high expression of steroid 11-beta-monooxygenase seems to explain steroidogenic characteristics of aldosterone-producing adenomas
23026940 The cause of adrenocortical insufficiency in the studied family appears to be two novel homozygous mutations in the 3beta-HSD gene.
22638611 The aim of this haplotype-based case-control study was to estimate whether polymorphisms of the maternal estrogen synthesis genes (CYP19A1, HSD3B1 and HSD3B2) are associated with preeclampsia and gestational hypertension
22356824 snps in HSD3B2 was in men associated with a lower risk of paranoid ideation.
22262841 Mitochondrial HSD3B2 activity requires reversible pH-dependent conformational change at the intermembrane space.
22106846 Data suggest that HSD3B2 interacts/unfolds in presence of specific liposomes (unilamellar liposomes of DPPG/DPPC). This lipid-mediated unfolding completely supports model in which cavity forms between alpha-helix and beta-sheet to activate enzyme.
21930695 3beta-hydroxysteroid dehydrogenase type 2
21185375 Human adrenal cells that express both 3beta-hydroxysteroid dehydrogenase type 2 (HSD3B2) and cytochrome b5 (CYB5A) contribute to adrenal androstenedione production
20734064 Observational study of gene-disease association. (HuGE Navigator)
20660004 SNPs located within the HSD3B2 gene were not associated with essential hypertension.
20660004 Observational study of gene-disease association. (HuGE Navigator)
20634197 Meta-analysis of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20453000 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19692168 Observational study of gene-disease association. (HuGE Navigator)
19625176 Observational study of gene-disease association. (HuGE Navigator)
19574343 Observational study of gene-disease association. (HuGE Navigator)
19505920 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19453261 Observational study of gene-disease association. (HuGE Navigator)
19414525 3beta-HSD protein was immunodetectable in primary ascites of women who were diagnosed with epithelial ovarian cancer but mRNA transcripts of both 3beta-hydroxysteroid dehydrogenase type 1 and type 2 were diminished relative to normal cells.
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19158234 NGFI-B family members induced promoter activity of 3-beta-hydroxysteroid-dehydrogenase type 2 (HSD3B2), 21-hydroxylase (CYP21A2), and aldosterone synthase (CYP11B2).
19059462 In human adrenal cells, FXR increases transcription and expression of HSD3B2.
19022561 both SF1 and LRH1 can transcriptionally cooperate with the AP-1 family members c-JUN and c-FOS, known to be associated with enhanced proliferation of endometrial carcinoma cells, to further enhance activation of the STAR, HSD3B2, and CYP19A1 PII promoters
18778748 Anti-inflammatory effects of IL-1alpha and IL-4 on 3beta-HSD2 mRNA involve a p38 MAPK signalling pathway, whereas pro-inflammatory response of IL-1alpha to 3beta-HSD1 mRNA involves a NF-kappaB inflammatory pathway.
18676680 Observational study of gene-disease association. (HuGE Navigator)
18636124 Observational study of gene-disease association. (HuGE Navigator)
18524572 Structure/function of the inhibition of HSD3B2 by trilostane is reported.
18505908 In cortices attached to adrenocortical adenomas, HSD3B2 mRNA was expressed in zona glomerulosa and zona fasciculata, but only sporadically in zona reticularis.
18252794 characterization of 3 novel homozygous mutations in HSD3B2 gene in patients with classic salt-losing 3beta-HSD deficiency; study concludes the C-terminal part of type II 3beta-HSD protein is essential for correct functioning & processing of the molecule
18000308 Lower 3beta-hydroxysteroid dehydrogenase type 2 but higher 17,20-lyase activity in NCI-H295R cells explaining the 'androgenic' steroid profile for these cells and resembling the zona reticularis of the human adrenal cortex.
17823934 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
17823934 HSD3B2 (TG)n,(TA)n,(CA)n intron 3 length polymorphism is associated with both prostate cancer risk and aggressiveness.
17689071 There is a possible role in human disease of common genetic variation in HSD3B1 and HSD3B2.
17589376 Observational study of gene-disease association. (HuGE Navigator)
17507624 Observational study of gene-disease association. (HuGE Navigator)
17220347 Observational study of gene-disease association. (HuGE Navigator)
16846535 Differences in fibroblast-derived glucocorticoid production (via the enzyme 11beta-HSD1) between cells from distinct anatomical locations may play a key role in the predeliction of certain tissues to develop persistent inflammation.
16648810 Observational study of gene-disease association. (HuGE Navigator)
15928316 HSD3B2 promoter (hHSD3B2), which contains four consensus GATA elements, constitutes an important target for GATA factors.
15767343 Observational study of gene-disease association. (HuGE Navigator)
15615861 HSD3B2 is upregulated by the nerve growth factor-induced clone B family of transcription factors.
15585552 Observational study of gene-disease association. (HuGE Navigator)
15498889 Nur77 is an important regulator of HSD3B2 promoter activity
15208301 regulation of transcription by NGFIB
15131259 Transcription enhancer factor-5 and the GATA-like protein act in a coordinate manner to determine the placental-specific expression of the human 3betaHSD I enzyme
14764821 Observational study of gene-disease association. (HuGE Navigator)
14764821 Subtle molecular abnormalities in HSD3B2 gene may be observed in some patients with apparent idiopathic hypospadias. This finding is uncommon.
14671206 LRH-1 is highly expressed in corpus luteum, and it plays an essential role in the regulation of HSD3B2.
12530651 Substantially higher affinity of 3beta-HSD1 activity for substrate and inhibitor steroids relative to the 3beta-HSD2 enzyme.
12205101 Structure/function relationships responsible for the kinetic differences between isoforms
11912155 Observational study of gene-disease association. (HuGE Navigator)
11287026 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MGWSCLVTGAGGLLGQRIVRLLVEEKELKEIRALDKAFRPELREEFSKLQNRTKLTVLEGDILDEPFLKR      1 - 70
ACQDVSVVIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVFIYTSSIEVAGPNSYKEIIQNG     71 - 140
HEEEPLENTWPTPYPYSKKLAEKAVLAANGWNLKNGDTLYTCALRPTYIYGEGGPFLSASINEALNNNGI    141 - 210
LSSVGKFSTVNPVYVGNVAWAHILALRALRDPKKAPSVRGQFYYISDDTPHQSYDNLNYILSKEFGLRLD    211 - 280
SRWSLPLTLMYWIGFLLEVVSFLLSPIYSYQPPFNRHTVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQ    281 - 350
KTVEWVGSLVDRHKETLKSKTQ                                                    351 - 372
//

Text Mined References (93)

PMID Year Title
26079780 2015 Severe Salt-Losing 3?-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes.
25458695 2015 3?-Hydroxysteroid dehydrogenase isoforms in human aldosterone-producing adenoma.
25319929 2014 Orexin-A stimulates 3?-hydroxysteroid dehydrogenase expression and cortisol production in H295R human adrenocortical cells through the AKT pathway.
24832628 2015 3?HSD and CYB5A double positive adrenocortical cells during adrenal development/aging.
24244276 2013 Characterization of prostate cancer bone metastases according to expression levels of steroidogenic enzymes and androgen receptor splice variants.
24006038 2013 Association of the variations in the HSD3? gene with primary aldosteronism.
23450050 2013 Interleukin-4 and prostaglandin E2 synergistically up-regulate 3?-hydroxysteroid dehydrogenase type 2 in endometrioma stromal cells.
23284679 2012 HSD3B and gene-gene interactions in a pathway-based analysis of genetic susceptibility to bladder cancer.
23257735 2013 Characterization of steroidogenic enzyme expression in aldosterone-producing adenoma: a comparison with various human adrenal tumors.
23026940 2012 Mutation of 3?-hydroxysteroid dehydrogenase (3?-HSD) at the 3'-untranslated region is associated with adrenocortical insufficiency.
22638611 2012 Estrogen synthesis genes CYP19A1, HSD3B1, and HSD3B2 in hypertensive disorders of pregnancy.
22579964 2012 In silico structural, functional and pathogenicity evaluation of a novel mutation: an overview of HSD3B2 gene mutations.
22356824 2012 Polymorphisms in AKR1C4 and HSD3B2 and differences in serum DHEAS and progesterone are associated with paranoid ideation during mania or hypomania in bipolar disorder.
22262841 2012 Mitochondrial 3?-hydroxysteroid dehydrogenase enzyme activity requires reversible pH-dependent conformational change at the intermembrane space.
22106846 2011 Lipid-mediated unfolding of 3?-hydroxysteroid dehydrogenase 2 is essential for steroidogenic activity.
21930695 2011 Inner mitochondrial translocase Tim50 interacts with 3?-hydroxysteroid dehydrogenase type 2 to regulate adrenal and gonadal steroidogenesis.
21185375 2011 Human adrenal cells that express both 3?-hydroxysteroid dehydrogenase type 2 (HSD3B2) and cytochrome b5 (CYB5A) contribute to adrenal androstenedione production.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
20660004 2010 Association of HSD3B1 and HSD3B2 gene polymorphisms with essential hypertension, aldosterone level, and left ventricular structure.
20634197 2010 Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20453000 2010 A Large-scale genetic association study of esophageal adenocarcinoma risk.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19692168 2010 Genetic susceptibility to distinct bladder cancer subphenotypes.
19625176 2009 PTEN identified as important risk factor of chronic obstructive pulmonary disease.
19574343 2009 Quantitative trait loci predicting circulating sex steroid hormones in men from the NCI-Breast and Prostate Cancer Cohort Consortium (BPC3).
19505920 2009 Single and multigenic analysis of the association between variants in 12 steroid hormone metabolism genes and risk of prostate cancer.
19453261 2009 High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
19414525 2009 Regulation of 3beta-hydroxysteroid dehydrogenase type 1 and type 2 gene expression and function in the human ovarian surface epithelium by cytokines.
19170196 2009 Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
19158234 2009 Role of angiotensin II-induced rapid response genes in the regulation of enzymes needed for aldosterone synthesis.
19059462 2009 The farnesoid X receptor regulates transcription of 3beta-hydroxysteroid dehydrogenase type 2 in human adrenal cells.
19027726 2009 The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative.
19022561 2009 The nuclear receptors SF1 and LRH1 are expressed in endometrial cancer cells and regulate steroidogenic gene transcription by cooperating with AP-1 factors.
18778748 2009 3beta-Hydroxysteroid dehydrogenases and pre-receptor steroid metabolism in the human ovarian surface epithelium.
18676680 2008 Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.
18636124 2008 Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma.
18524572 2008 Structure/function of the inhibition of human 3beta-hydroxysteroid dehydrogenase type 1 and type 2 by trilostane.
18505908 2008 Analysis of mRNA expression for steroidogenic enzymes in the remaining adrenal cortices attached to adrenocortical adenomas.
18252794 2008 Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia.
18000308 2007 Human adrenal corticocarcinoma NCI-H295R cells produce more androgens than NCI-H295A cells and differ in 3beta-hydroxysteroid dehydrogenase type 2 and 17,20 lyase activities.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17823934 2007 SRD5A2 and HSD3B2 polymorphisms are associated with prostate cancer risk and aggressiveness.
17689071 2007 Human 3beta-hydroxysteroid dehydrogenase types 1 and 2: Gene sequence variation and functional genomics.
17589376 Association of estrogen-related polymorphisms with age at menarche, age at final menstrual period, and stages of the menopausal transition.
17507624 2007 Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer.
17220347 2007 Variant in sex hormone-binding globulin gene and the risk of prostate cancer.
16846535 2006 Differential expression, function and response to inflammatory stimuli of 11beta-hydroxysteroid dehydrogenase type 1 in human fibroblasts: a mechanism for tissue-specific regulation of inflammation.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16648810 Association study of six activity SNPS in adrenal steroid hormone metabolism and IBM related genes with precocious puberty in Chinese girls.
15928316 2005 GATA factors and the nuclear receptors, steroidogenic factor 1/liver receptor homolog 1, are key mutual partners in the regulation of the human 3beta-hydroxysteroid dehydrogenase type 2 promoter.
15767343 2005 Thyroid cancer susceptibility and THRA1 and BAT-40 repeats polymorphisms.
15615861 2005 The NGFI-B family of transcription factors regulates expression of 3beta-hydroxysteroid dehydrogenase type 2 in the human ovary.
15585552 2005 Refining hormonal diagnosis of type II 3beta-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping.
15583024 2004 Overview of steroidogenic enzymes in the pathway from cholesterol to active steroid hormones.
15498889 2005 The human 3beta-hydroxysteroid dehydrogenase/Delta5-Delta4 isomerase type 2 promoter is a novel target for the immediate early orphan nuclear receptor Nur77 in steroidogenic cells.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15208301 2004 The orphan nuclear receptor NGFIB regulates transcription of 3beta-hydroxysteroid dehydrogenase. implications for the control of adrenal functional zonation.
15131259 2004 Transcription enhancer factor-5 and a GATA-like protein determine placental-specific expression of the Type I human 3beta-hydroxysteroid dehydrogenase gene, HSD3B1.
14764821 2004 Molecular study of the 3 beta-hydroxysteroid dehydrogenase gene type II in patients with hypospadias.
14764797 2004 The hormonal phenotype of Nonclassic 3 beta-hydroxysteroid dehydrogenase (HSD3B) deficiency in hyperandrogenic females is associated with insulin-resistant polycystic ovary syndrome and is not a variant of inherited HSD3B2 deficiency.
14671206 2003 The role of the orphan nuclear receptor, liver receptor homologue-1, in the regulation of human corpus luteum 3beta-hydroxysteroid dehydrogenase type II.
12530651 2002 Differences in substrate and inhibitor kinetics of human type 1 and type 2 3beta-hydroxysteroid dehydrogenase are explained by the type 1 mutant, H156Y.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12205101 2002 Structure/function relationships responsible for the kinetic differences between human type 1 and type 2 3beta-hydroxysteroid dehydrogenase and for the catalysis of the type 1 activity.
12050213 2002 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.
11912155 2002 Joint effect of HSD3B1 and HSD3B2 genes is associated with hereditary and sporadic prostate cancer susceptibility.
11287026 2001 Candidate gene analysis in premature pubarche and adolescent hyperandrogenism.
10843183 2000 A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3beta-hydroxysteroid dehydrogenase deficiency in 46,XX and 46,XY French-Canadians: evaluation of gonadal function after puberty.
10651755 2000 Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls.
10599696 1999 New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes.
9719627 1998 Variants of the type II 3beta-hydroxysteroid dehydrogenase gene in children with premature pubic hair and hyperandrogenic adolescents.
8943802 1996 Molecular biology and genetics of the 3 beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase gene family.
8316254 1993 Molecular basis of congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.
8284113 1993 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.
8185809 1994 Mutation in 3 beta-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females.
8126127 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.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
8060486 1994 Mutation in the human gene for 3 beta-hydroxysteroid dehydrogenase type II leading to male pseudohermaphroditism without salt loss.
7962268 1994 Molecular basis of congenital adrenal hyperplasia in two siblings with classical nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency.
7893703 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.
7833923 1994 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.
7633460 1995 Molecular analysis of type II 3 beta-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3 beta-hydroxysteroid dehydrogenase deficiency.
7633426 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.
7608265 1995 Nonsalt-losing male pseudohermaphroditism due to the novel homozygous N100S mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene.
7588414 Variation in the expression of human 3 beta-hydroxysteroid dehydrogenase.
2243100 1990 Characterization of human 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase gene and its expression in mammalian cells.
2066113 1991 Regional chromosomal assignment of human 3-beta-hydroxy-5-ene steroid dehydrogenase to 1p13.1 by non-isotopic in situ hybridisation.
1944309 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.
1741954 1991 Structure of the human type II 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase (3 beta-HSD) gene: adrenal and gonadal specificity.
1363812 1992 Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene.
295036 1979 3 beta-hydroxysteroid dehydrogenase deficiency. Follow-up study in a girl with pubertal bone age.