Property Summary

NCBI Gene PubMed Count 90
Grant Count 33
R01 Count 11
Funding $1,643,211.45
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 0.004
colon cancer -2.500 0.013
ulcerative colitis -2.100 0.000
psoriasis -1.800 0.000

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.
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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.
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