Details for: HSD3B2

Gene ID: 3284

Symbol: HSD3B2

Ensembl ID: ENSG00000203859

Description: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 6.25
    Marker Score: 3461
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 4.72
    Marker Score: 3237
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 3.75
    Marker Score: 6837
  • Cell Name: T cell (CL0000084)
    Fold Change: 2.42
    Marker Score: 4165
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 2.28
    Marker Score: 2295
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 2.2
    Marker Score: 1517
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 1.68
    Marker Score: 957
  • Cell Name: monocyte (CL0000576)
    Fold Change: 1.68
    Marker Score: 2178
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 1.58
    Marker Score: 1761
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 1.51
    Marker Score: 2077
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.38
    Marker Score: 876
  • Cell Name: pericyte (CL0000669)
    Fold Change: 1.35
    Marker Score: 789
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.3
    Marker Score: 687
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.27
    Marker Score: 861
  • Cell Name: B cell (CL0000236)
    Fold Change: 1.26
    Marker Score: 1199
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.19
    Marker Score: 494
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.15
    Marker Score: 7664
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4814
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.14
    Marker Score: 1226
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251802
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1
    Marker Score: 515.5
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71819
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48045
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.99
    Marker Score: 469
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.97
    Marker Score: 404
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.95
    Marker Score: 726
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.95
    Marker Score: 380
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5343
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.92
    Marker Score: 331
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.91
    Marker Score: 1715
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5292
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.86
    Marker Score: 496
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.85
    Marker Score: 1099.5
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1268
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 712
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.78
    Marker Score: 403
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.74
    Marker Score: 1186
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.74
    Marker Score: 1523.5
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.73
    Marker Score: 469
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.71
    Marker Score: 183
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.71
    Marker Score: 468.5
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.66
    Marker Score: 479.5
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.65
    Marker Score: 522
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.63
    Marker Score: 381
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.59
    Marker Score: 1204
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.58
    Marker Score: 153
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.56
    Marker Score: 563
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.56
    Marker Score: 8704
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.53
    Marker Score: 168
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.5
    Marker Score: 482
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.5
    Marker Score: 228
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 282
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.47
    Marker Score: 525
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.39
    Marker Score: 234
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.38
    Marker Score: 378
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.37
    Marker Score: 1155
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.36
    Marker Score: 319
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.34
    Marker Score: 328
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.3
    Marker Score: 145
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.25
    Marker Score: 378
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.24
    Marker Score: 1409.5
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 67
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.23
    Marker Score: 77
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.22
    Marker Score: 118
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.19
    Marker Score: 82
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.18
    Marker Score: 435
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.18
    Marker Score: 48
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.18
    Marker Score: 44
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.14
    Marker Score: 31
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.14
    Marker Score: 36.5
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.13
    Marker Score: 213
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: 0.12
    Marker Score: 103
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1
    Marker Score: 29
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.1
    Marker Score: 460
  • Cell Name: enterocyte of epithelium proper of ileum (CL1000342)
    Fold Change: 0.09
    Marker Score: 27
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.09
    Marker Score: 559.5
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.09
    Marker Score: 138
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.08
    Marker Score: 31
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.08
    Marker Score: 55
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.08
    Marker Score: 26
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.08
    Marker Score: 25
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.07
    Marker Score: 37
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.07
    Marker Score: 22
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 0.07
    Marker Score: 128
  • Cell Name: inflammatory cell (CL0009002)
    Fold Change: 0.07
    Marker Score: 29
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.07
    Marker Score: 16
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.07
    Marker Score: 24
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.07
    Marker Score: 30
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.06
    Marker Score: 76
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.06
    Marker Score: 22
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.06
    Marker Score: 23
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.06
    Marker Score: 72
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.06
    Marker Score: 30
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.05
    Marker Score: 193
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.05
    Marker Score: 34.5
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.05
    Marker Score: 29.5
  • Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
    Fold Change: 0.05
    Marker Score: 31

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Other Information

**Key characteristics:** * It is a multi-functional enzyme that performs different activities. * It is expressed in various cell types, including erythrocytes, dendritic cells, microglia, T cells, blood vessel endothelial cells, conventional dendritic cells, megakaryocytes, monocytes, and plasma cells. * It is a key enzyme in the biosynthesis of androgens, which are hormones produced in the testes. * It is also involved in the degradation of androgens and the interconversion of androgens to other steroids. * It plays a role in the metabolism of cholesterol, the conversion of androgens to estrogen, and the biosynthesis of mineralocorticoids. **Pathways and functions:** * **Androgen biosynthesis:** HSD3B2 is responsible for the biosynthesis of androgens, including testosterone and dihydrotestosterone. * **Androgen biosynthetic process:** Androgens are synthesized from cholesterol through a series of enzymatic reactions involving HSD3B2. * **C21-steroid hormone metabolic process:** HSD3B2 is involved in the metabolism of C21-steroids, which are produced by the breakdown of cholesterol. * **Cholesterol dehydrogenase activity:** HSD3B2 is a key enzyme in the cholesterol dehydrogenase activity pathway, which converts cholesterol to bile acids. * **Glucocorticoid biosynthesis:** HSD3B2 is involved in the biosynthesis of glucocorticoids, which are produced by the liver in response to stress. * **Hippocampus development:** HSD3B2 is expressed in the developing hippocampus and is involved in the differentiation and function of neural cells. * **Metabolism of steroids:** HSD3B2 participates in the metabolism of steroids, including the conversion of androgens to estrogen and the degradation of androgens and estrogen. * **Mineralocorticoid biosynthesis:** HSD3B2 is involved in the biosynthesis of mineralocorticoids, which are produced by the kidneys in response to salt and water balance. * **Oxidoreductase activity:** HSD3B2 is an antioxidant enzyme that performs various reactions involving the reduction of reactive oxygen species (ROS). **Clinical significance:** * Mutations in HSD3B2 have been linked to several human diseases, including male infertility, feminization of the sex organs, and metabolic disorders. * HSD3B2 inhibitors are being investigated as potential therapeutic agents for these diseases.

Genular Protein ID: 212537558

Symbol: 3BHS2_HUMAN

Name: 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II

UniProtKB Accession Codes:

P26439 A2RRA5 Q16010 Q53GD4 Q6AI10 Q6LDB9 Q99890 Q9UD08

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 2 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChEBI 22 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 6 DrugCentral 1 EC 3 EMBL 11 Ensembl 2 ExpressionAtlas 1 GO 20 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 3 RefSeq 2 Rhea 10 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 1741954

Title: Structure of the human type II 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase (3 beta-HSD) gene: adrenal and gonadal specificity.

PubMed ID: 1741954

DOI: 10.1089/dna.1991.10.701

PubMed ID: 1944309

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.

PubMed ID: 1944309

DOI: 10.1210/mend-5-8-1147

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7588414

Title: Variation in the expression of human 3 beta-hydroxysteroid dehydrogenase.

PubMed ID: 7588414

DOI: 10.3109/07435809509030466

PubMed ID: 1363812

Title: Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene.

PubMed ID: 1363812

DOI: 10.1038/ng0792-239

PubMed ID: 14764797

Title: 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.

PubMed ID: 14764797

DOI: 10.1210/jc.2003-030934

PubMed ID: 8316254

Title: Molecular basis of congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.

PubMed ID: 8316254

DOI: 10.1210/mend.7.5.8316254

PubMed ID: 7833923

Title: 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.

PubMed ID: 7833923

DOI: 10.1093/hmg/3.9.1639

PubMed ID: 8126127

Title: 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.

PubMed ID: 8126127

DOI: 10.1210/jcem.78.3.8126127

PubMed ID: 7962268

Title: Molecular basis of congenital adrenal hyperplasia in two siblings with classical nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency.

PubMed ID: 7962268

DOI: 10.1210/jcem.79.4.7962268

PubMed ID: 8185809

Title: Mutation in 3 beta-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females.

PubMed ID: 8185809

DOI: 10.1677/jme.0.0120119

PubMed ID: 8060486

Title: Mutation in the human gene for 3 beta-hydroxysteroid dehydrogenase type II leading to male pseudohermaphroditism without salt loss.

PubMed ID: 8060486

DOI: 10.1677/jme.0.0120225

PubMed ID: 7893703

Title: 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.

PubMed ID: 7893703

DOI: 10.1021/bi00009a020

PubMed ID: 7633426

Title: 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.

PubMed ID: 7633426

DOI: 10.1093/hmg/4.4.745

PubMed ID: 7633460

Title: Molecular analysis of type II 3 beta-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3 beta-hydroxysteroid dehydrogenase deficiency.

PubMed ID: 7633460

DOI: 10.1093/hmg/4.5.969

PubMed ID: 7608265

Title: Nonsalt-losing male pseudohermaphroditism due to the novel homozygous N100S mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene.

PubMed ID: 7608265

DOI: 10.1210/jcem.80.7.7608265

PubMed ID: 9719627

Title: Variants of the type II 3beta-hydroxysteroid dehydrogenase gene in children with premature pubic hair and hyperandrogenic adolescents.

PubMed ID: 9719627

DOI: 10.1006/mgme.1998.2715

PubMed ID: 10599696

Title: New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene in eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes.

PubMed ID: 10599696

DOI: 10.1210/jcem.84.12.6288

PubMed ID: 10651755

Title: Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls.

PubMed ID: 10651755

DOI: 10.1046/j.1365-2265.2000.00873.x

PubMed ID: 10843183

Title: 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.

PubMed ID: 10843183

DOI: 10.1210/jcem.85.5.6581

PubMed ID: 12050213

Title: A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3-beta-hydroxysteroid dehydrogenase (3-beta-HSD) gene causing, respectively, nonclassic and classic 3-beta-HSD deficiency congenital adrenal hyperplasia.

PubMed ID: 12050213

DOI: 10.1210/jcem.87.6.8559

PubMed ID: 18252794

Title: Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia.

PubMed ID: 18252794

DOI: 10.1210/jc.2007-1874

PubMed ID: 22579964

Title: In silico structural, functional and pathogenicity evaluation of a novel mutation: an overview of HSD3B2 gene mutations.

PubMed ID: 22579964

DOI: 10.1016/j.gene.2012.04.080

PubMed ID: 25322271

Title: A novel missense mutation in the HSD3B2 gene, underlying nonsalt-wasting congenital adrenal hyperplasia. new insight into the structure-function relationships of 3beta-hydroxysteroid dehidrogenase type II.

PubMed ID: 25322271

DOI: 10.1210/jc.2014-2676

Sequence Information:

  • Length: 372
  • Mass: 42052
  • Checksum: 8E0D933488988451
  • Sequence:
    • MGWSCLVTGA GGLLGQRIVR LLVEEKELKE IRALDKAFRP ELREEFSKLQ NRTKLTVLEG 
DILDEPFLKR ACQDVSVVIH TACIIDVFGV THRESIMNVN VKGTQLLLEA CVQASVPVFI 
YTSSIEVAGP NSYKEIIQNG HEEEPLENTW PTPYPYSKKL AEKAVLAANG WNLKNGDTLY 
TCALRPTYIY GEGGPFLSAS INEALNNNGI LSSVGKFSTV NPVYVGNVAW AHILALRALR 
DPKKAPSVRG QFYYISDDTP HQSYDNLNYI LSKEFGLRLD SRWSLPLTLM YWIGFLLEVV 
SFLLSPIYSY QPPFNRHTVT LSNSVFTFSY KKAQRDLAYK PLYSWEEAKQ KTVEWVGSLV 
DRHKETLKSK TQ

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.