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HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 [Homo sapiens (human)]


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
NM_001166120 Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $418.00 $369.00 10

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Related Services

Gene Symbol HSD3B2
Entrez Gene ID 3284
Full Name hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
Synonyms HSD3B, HSDB, SDR11E2
General protein information
Preferred Names
3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2
Names
3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2
3-beta-HSD II
3 beta-HSD type II
progesterone reductase
delta 5-delta 4-isomerase type II
3-beta-HSD adrenal and gonadal type
3-beta-hydroxy-5-ene steroid dehydrogenase
3-beta-hydroxy-Delta(5)-steroid dehydrogenase
short chain dehydrogenase/reductase family 11E, member 2
3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II
3 beta-hydroxysteroid dehydrogenase type II, delta 5-delta 4-isomerase type II, 3 beta-HSD type II
NP_000189.1
NP_001159592.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

1

1p13.1

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].
Disorder

MIM: 613890

mRNA Protein Product Sequence Price Select
NM_000198, 260763929 NP_000189, 4504509 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 ORF Sequence $269.00
NM_001166120, 260763930 NP_001159592, 260763931 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 ORF Sequence $269.00
KEGG
hsa00140Steroid hormone biosynthesis
hsa_M00107Steroid hormone biosynthesis, cholesterol => prognenolone => progesterone
hsa_M00110C19/C18-Steroid hormone biosynthesis, pregnenolone => androstenedione => estrone
hsa04913Ovarian steroidogenesis
WikiPathways
WP496Steroid Biosynthesis
WP237Glucocorticoid & Mineralcorticoid Metabolism
WP2263Prostate Cancer
WP2355Corticotropin-releasing hormone
Reactome
REACT_11047Mineralocorticoid biosynthesis
REACT_11057Metabolism of steroid hormones and vitamin D
REACT_11036Glucocorticoid biosynthesis
REACT_11059Androgen biosynthesis
REACT_22258Metabolism of lipids and lipoproteins
REACT_111217Metabolism
Homo sapiens (human)HSD3B2NP_001159592.1
Pan troglodytes (chimpanzee)HSD3B2XP_001142555.1
Macaca mulatta (Rhesus monkey)LOC100424395XP_002801771.1
Canis lupus familiaris (dog)HSD3B2NP_001010954.1
Bos taurus (cattle)HSD3B1NP_776768.1
Mus musculus (house mouse)Hsd3b1NP_032319.1
Rattus norvegicus (Norway rat)Hsd3bNP_001036084.1
Rattus norvegicus (Norway rat)Hsd3b6NP_058961.4
Rattus norvegicus (Norway rat)LOC100911154XP_006233083.1
Gallus gallus (chicken)HSD3B2NP_990449.1
Danio rerio (zebrafish)si:rp71-68n21.10XP_694204.3
Danio rerio (zebrafish)hsd3b1NP_997962.1
Drosophila melanogaster (fruit fly)CG7724NP_648957.1
Xenopus (Silurana) tropicalis (western clawed frog)LOC100490622XP_004920800.1
Process
IDNameEvidence
GO:0006694steroid biosynthetic processIDA
GO:0006702androgen biosynthetic processTAS
GO:0006704glucocorticoid biosynthetic processTAS
GO:0006705mineralocorticoid biosynthetic processTAS
GO:0008202steroid metabolic processTAS
GO:0044281small molecule metabolic processTAS
GO:0055114oxidation-reduction processIEA
Component
IDNameEvidence
GO:0005743mitochondrial inner membraneISS
GO:0005758mitochondrial intermembrane spaceISS
GO:0005783endoplasmic reticulumNAS
GO:0005789endoplasmic reticulum membraneTAS
GO:0016021integral component of membraneNAS
GO:0030868smooth endoplasmic reticulum membraneISS
GO:0031966mitochondrial membraneNAS
Function
IDNameEvidence
GO:00038543-beta-hydroxy-delta5-steroid dehydrogenase activityIDA
GO:0004769steroid delta-isomerase activityIDA
GeneCards HSD3B2
UniProt P26439
Vega OTTHUMG00000012526
MIM 613890
Ensembl ENSG00000203859
HGNC 5218
HPRD 01941

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the HSD3B2 gene?

The HSD3B2 gene provides instructions for making the 3-beta-hydroxysteroid dehydrogenase (3β-HSD) enzyme. This enzyme is found in the gonads, which are the ovaries in females and testes in males, and in the adrenal glands, which are located on top of the kidneys. Within these hormone-producing tissues, the 3β-HSD enzyme is necessary for the production of many hormones, including cortisol, aldosterone, androgens, and estrogen. Cortisol has numerous functions such as maintaining energy and blood sugar levels, protecting the body from stress, and suppressing inflammation. Aldosterone is sometimes called the salt-retaining hormone because it regulates the amount of salt retained by the kidney. The retention of salt affects fluid levels and blood pressure. Androgens and estrogen are essential for normal sexual development and reproduction.

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