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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000198 Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $418.00 $369.00 10

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RefSeq Version NM_000198.3, 260763929
Length 1730 bp
Structure linear
Update Date 17-APR-2013
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..1033
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
201+a, cdbSNP:28934880
227+a, gdbSNP:143169543
228+c, tdbSNP:115344376
230+c, tdbSNP:139191056
294+a, tdbSNP:150979536
304+g, tdbSNP:111333222
351+dbSNP:
351+a, gdbSNP:141499927
374+a, cdbSNP:138340684
392+a, gdbSNP:4986954
394+c, tdbSNP:150892928
404+a, gdbSNP:143103963
452+c, gdbSNP:6211
490+dbSNP:
490+a, gdbSNP:143963934
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
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
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, cdbSNP:151258756
1118+c, tdbSNP:114032180
1132+a, cdbSNP:34412477
1144+c, tdbSNP:145137295
1153+a, c, tdbSNP: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
1387+c, gdbSNP:9282703
1493+a, gdbSNP:9282704
1498+c, tdbSNP:186430448
1560+g, tdbSNP:191329987
1567+a, gdbSNP:1819698
1612+c, gdbSNP: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 $418.00 $369.00 10
NM_001166120 Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA. In-stock $418.00 $369.00 10
Title Polymorphisms in AKR1C4 and HSD3B2 and differences in serum DHEAS and progesterone are associated with paranoid ideation during mania or hypomania in bipolar disorder .
Author Johansson,A.G., Nikamo,P., Schalling,M. and Landen,M.
Journal Eur Neuropsychopharmacol 22 (9), 632-640 (2012)
Title Mitochondrial 3beta-hydroxysteroid dehydrogenase enzyme activity requires reversible pH-dependent conformational change at the intermembrane space .
Author Prasad,M., Thomas,J.L., Whittal,R.M. and Bose,H.S.
Journal J. Biol. Chem. 287 (12), 9534-9546 (2012)
Title Lipid-mediated unfolding of 3beta-hydroxysteroid dehydrogenase 2 is essential for steroidogenic activity .
Author Rajapaksha,M., Thomas,J.L., Streeter,M., Prasad,M., Whittal,R.M., Bell,J.D. and Bose,H.S.
Journal Biochemistry 50 (51), 11015-11024 (2011)
Title Inner mitochondrial translocase Tim50 interacts with 3beta-hydroxysteroid dehydrogenase type 2 to regulate adrenal and gonadal steroidogenesis .
Author Pawlak,K.J., Prasad,M., Thomas,J.L., Whittal,R.M. and Bose,H.S.
Journal J. Biol. Chem. 286 (45), 39130-39140 (2011)
Title Human adrenal cells that express both 3beta-hydroxysteroid dehydrogenase type 2 (HSD3B2) and cytochrome b5 (CYB5A) contribute to adrenal androstenedione production .
Author Nakamura,Y., Xing,Y., Hui,X.G., Kurotaki,Y., Ono,K., Cohen,T., Sasano,H. and Rainey,W.E.
Journal J. Steroid Biochem. Mol. Biol. 123 (3-5), 122-126 (2011)
Title Congenital adrenal hyperplasia due to point mutations in the type .
Author Rheaume,E., Simard,J., Morel,Y., Mebarki,F., Zachmann,M., Forest,M.G., New,M.I. and Labrie,F.
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,H.F., 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,D.A., McBride,M.W., Mueller,U.W., Boyd,E. and Sutcliffe,R.G.
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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