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Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu14034 Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 1, mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu14034C Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 1, mRNA. Customized vector In-stock $149.00 5-7

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Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_000198.3, 260763929
Length 1119 bp
Structure linear
Update Date 30-MAR-2014
Organism Homo sapiens (human)
Definition Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 1, mRNA.
Product 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2
Comment

Summary: The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009].


Transcript Variant: This variant (1) represents the predominant transcript. Variants 1 and 2 encode the same protein.

RefSeq NP_000189.1
CDS 173..1291
Misc Feature(1)38..40
Misc Feature(2)182..1240
Misc Feature(3)182..1240
Misc Feature(4)188..1246
Misc Feature(5)order(197..199,203..214,275..283,413..421,467..469,
Misc Feature(6)order(470..472,542..544,632..634,644..646)
Misc Feature(7)order(542..544,632..634,734..736,773..775,803..805,
Misc Feature(8)1031..1093
Exon (1)1..83
Gene:HSD3B2
Gene Synonym:HSD3B; HSDB; SDR11E2
Exon (2)84..314
Gene:HSD3B2
Gene Synonym:HSD3B; HSDB; SDR11E2
Exon (3)315..479
Gene:HSD3B2
Gene Synonym:HSD3B; HSDB; SDR11E2
Exon (4)480..1710
Gene:HSD3B2
Gene Synonym:HSD3B; HSDB; SDR11E2
Translation MGWSCLVTGAGGLLGQRIVRLLVEEKELKEIRALDKAFRPELREEFSKLQNRTKLTVLEG DILDEPFLKRACQDVSVVIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVFI YTSSIEVAGPNSYKEIIQNGHEEEPLENTWPTPYPYSKKLAEKAVLAANGWNLKNGDTLY TCALRPTYIYGEGGPFLSASINEALNNNGILSSVGKFSTVNPVYVGNVAWAHILALRALR DPKKAPSVRGQFYYISDDTPHQSYDNLNYILSKEFGLRLDSRWSLPLTLMYWIGFLLEVV SFLLSPIYSYQPPFNRHTVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSLV DRHKETLKSKTQ
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Position Chain Variation Link
28+dbSNP:
28+a, gdbSNP:35226381
82+c, tdbSNP:150977514
141+dbSNP:
141+c, tdbSNP:6208
171+c, tdbSNP:187042846
177+g, tdbSNP:116449508
185+a, tdbSNP:376207606
201+a, cdbSNP:28934880
212+c, gdbSNP:377504860
227+a, gdbSNP:143169543
228+c, tdbSNP:115344376
230+c, tdbSNP:139191056
296+c, tdbSNP:370732845
299+a, gdbSNP:374785266
304+g, tdbSNP:111333222
332+dbSNP:
332+a, gdbSNP:372260820
351+a, gdbSNP:141499927
374+a, cdbSNP:138340684
379+a, gdbSNP:375679388
392+a, gdbSNP:4986954
394+c, tdbSNP:150892928
404+a, gdbSNP:143103963
438+g, tdbSNP:368662017
449+a, gdbSNP:371800920
452+c, gdbSNP:6211
484+dbSNP:
484+c, tdbSNP:367646123
583+a, cdbSNP:374909270
589+c, tdbSNP:369303483
591+g, tdbSNP:142169766
596+a, gdbSNP:80358219
637+a, gdbSNP:114527791
663+c, tdbSNP:34562248
672+c, tdbSNP:35486059
673+a, gdbSNP:6207
684+a, gdbSNP:80358216
721+a, gdbSNP:33932258
742+c, tdbSNP:374075427
771+a, gdbSNP:377671756
781+a, gdbSNP:375323828
785+c, tdbSNP:138811555
793+c, tdbSNP:143758913
803+c, tdbSNP:143038843
810+c, gdbSNP:137867568
836+a, cdbSNP:80358220
843+a, gdbSNP:150525350
844+c, tdbSNP:116728039
879+c, tdbSNP:35887327
890+c, tdbSNP:370603955
891+a, gdbSNP:373456025
892+a, gdbSNP:200212806
914..915+aa, gtdbSNP:121964896
917+c, tdbSNP:80358217
948+c, tdbSNP:80358221
949+a, gdbSNP:33926546
981+c, tdbSNP:75429891
1001+c, tdbSNP:201384931
1024+a, c, tdbSNP:151258756
1118+c, tdbSNP:114032180
1132+a, cdbSNP:34412477
1144+c, tdbSNP:145137295
1153+a, cdbSNP:149441011
1175+c, tdbSNP:148200568
1184+a, gdbSNP:147383167
1186+a, gdbSNP:116342586
1194+c, tdbSNP:121964897
1201+c, tdbSNP:35849160
1229+a, gdbSNP:143634775
1234+a, gdbSNP:114064941
1256+c, tdbSNP:199919404
1291+a, cdbSNP:80358218
1337+c, tdbSNP:371081728
1338+a, tdbSNP:374222089
1387+c, gdbSNP:9282703
1493+a, gdbSNP:9282704
1498+c, tdbSNP:186430448
1560+g, tdbSNP:191329987
1567..1572+cttaac, tdbSNP:386635104
complement(1567)-g, adbSNP:1819698
1570..1574+, aacttdbSNP:369148049
complement(1612)-g, cdbSNP:1361530
Gene SymbolHSD3B2
Gene SynonymHSD3B; HSDB; SDR11E2
Chromosome1
Locus Map1p13.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000198 Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 1, mRNA. In-stock $99.00 5-7
NM_000198 Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 1, mRNA. In-stock $99.00 5-7
Title Association of the variations in the HSD3beta gene with primary aldosteronism .
Author Wu VC, Wu CK, Chang YC, Young GH, Chen SC, Yang WS, Chen CY, Wang WJ, Lin CY, Lin YH, Lin SL, Chueh SC and Wu KD.
Journal J. Hypertens. 31 (7), 1396-1405 (2013)
Title Interleukin-4 and prostaglandin E2 synergistically up-regulate 3beta-hydroxysteroid dehydrogenase type 2 in endometrioma stromal cells .
Author Urata Y, Osuga Y, Akiyama I, Nagai M, Izumi G, Takamura M, Hasegawa A, Harada M, Hirata T, Hirota Y, Yoshino O, Koga K and Kozuma S.
Journal J. Clin. Endocrinol. Metab. 98 (4), 1583-1590 (2013)
Title Characterization of steroidogenic enzyme expression in aldosterone-producing adenoma: a comparison with various human adrenal tumors .
Author Sakuma I, Suematsu S, Matsuzawa Y, Saito J, Omura M, Maekawa T, Nakamura Y, Sasano H and Nishikawa T.
Journal Endocr. J. 60 (3), 329-336 (2013)
Title Mutation of 3beta-hydroxysteroid dehydrogenase (3beta-HSD) at the 3'-untranslated region is associated with adrenocortical insufficiency .
Author Pan Y, Zhong S, Hu RM and Gong W.
Journal Mol Med Rep 6 (6), 1305-1308 (2012)
Title HSD3B and gene-gene interactions in a pathway-based analysis of genetic susceptibility to bladder cancer .
Author Andrew AS, Hu T, Gu J, Gui J, Ye Y, Marsit CJ, Kelsey KT, Schned AR, Tanyos SA, Pendleton EM, Mason RA, Morlock EV, Zens MS, Li Z, Moore JH, Wu X and Karagas MR.
Journal PLoS ONE 7 (12), E51301 (2012)
Title Congenital adrenal hyperplasia due to point mutations in the type .
Author Rheaume E, Simard J, Morel Y, Mebarki F, Zachmann M, Forest MG, New
Journal Nat. Genet. 1 (4), 239-245 (1992)
Title Structure of the human type II 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase (3 beta-HSD) gene: adrenal and gonadal specificity .
Author Lachance Y, Luu-The V, Verreault H, Dumont M, Rheaume E, Leblanc G and Labrie F.
Journal DNA Cell Biol. 10 (10), 701-711 (1991)
Title 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 .
Author Rheaume E, Lachance Y, Zhao HF, Breton N, Dumont M, de Launoit Y, Trudel C, Luu-The V, Simard J and Labrie F.
Journal Mol. Endocrinol. 5 (8), 1147-1157 (1991)
Title Regional chromosomal assignment of human 3-beta-hydroxy-5-ene steroid dehydrogenase to 1p13.1 by non-isotopic in situ hybridisation .
Author Morrison N, Nickson DA, McBride MW, Mueller UW, Boyd E and Sutcliffe RG.
Journal Hum. Genet. 87 (2), 223-225 (1991)
Title 3 beta-hydroxysteroid dehydrogenase deficiency. Follow-up study in a girl with pubertal bone age .
Author Zachmann,M., Forest,M.G. and De Peretti,E.
Journal Horm. Res. 11 (6), 292-302 (1979)

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