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)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 6.7723
    Cell Significance Index: 172.5500
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 2.3903
    Cell Significance Index: 11.9300
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.6649
    Cell Significance Index: 28.4600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.9418
    Cell Significance Index: 25.2400
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.9249
    Cell Significance Index: 14.3100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2855
    Cell Significance Index: 6.1900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2615
    Cell Significance Index: 49.7700
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: 0.1586
    Cell Significance Index: 1.6900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1281
    Cell Significance Index: 115.6400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0897
    Cell Significance Index: 8.8700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0410
    Cell Significance Index: 6.6700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0314
    Cell Significance Index: 0.9100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0188
    Cell Significance Index: 0.8500
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 0.0097
    Cell Significance Index: 0.1000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.0016
    Cell Significance Index: 0.1800
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: 0.0005
    Cell Significance Index: 0.0200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.0001
    Cell Significance Index: 0.0200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0001
    Cell Significance Index: 0.0100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0005
    Cell Significance Index: -0.3800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0009
    Cell Significance Index: -0.5000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0038
    Cell Significance Index: -7.0800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0059
    Cell Significance Index: -10.8900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0063
    Cell Significance Index: -0.2200
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0067
    Cell Significance Index: -0.1700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0071
    Cell Significance Index: -10.9600
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.0073
    Cell Significance Index: -0.0800
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.0081
    Cell Significance Index: -0.0800
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: -0.0081
    Cell Significance Index: -0.0800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0082
    Cell Significance Index: -11.2100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0114
    Cell Significance Index: -1.3300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0134
    Cell Significance Index: -9.8400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0149
    Cell Significance Index: -9.4400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0211
    Cell Significance Index: -9.5600
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.0222
    Cell Significance Index: -0.2700
  • Cell Name: IgG plasma cell (CL0000985)
    Fold Change: -0.0276
    Cell Significance Index: -0.2500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0312
    Cell Significance Index: -6.2000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0314
    Cell Significance Index: -6.2900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0322
    Cell Significance Index: -1.9800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0374
    Cell Significance Index: -10.7700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.0436
    Cell Significance Index: -2.6200
  • Cell Name: embryonic fibroblast (CL2000042)
    Fold Change: -0.0439
    Cell Significance Index: -0.2100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0448
    Cell Significance Index: -1.1200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.0489
    Cell Significance Index: -3.3800
  • Cell Name: collagen secreting cell (CL0000667)
    Fold Change: -0.0539
    Cell Significance Index: -0.3000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0553
    Cell Significance Index: -9.4400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0634
    Cell Significance Index: -9.2200
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: -0.0754
    Cell Significance Index: -0.9100
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: -0.0773
    Cell Significance Index: -0.9800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1003
    Cell Significance Index: -13.7800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1025
    Cell Significance Index: -6.8900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1076
    Cell Significance Index: -10.9900
  • Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
    Fold Change: -0.1113
    Cell Significance Index: -0.9600
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: -0.1462
    Cell Significance Index: -1.4000
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.1597
    Cell Significance Index: -2.1900
  • Cell Name: monocyte (CL0000576)
    Fold Change: -0.1712
    Cell Significance Index: -1.9700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1714
    Cell Significance Index: -6.0100
  • Cell Name: T cell (CL0000084)
    Fold Change: -0.1897
    Cell Significance Index: -2.2400
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.2044
    Cell Significance Index: -2.6500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2053
    Cell Significance Index: -11.5200
  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: -0.2177
    Cell Significance Index: -1.3900
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.2210
    Cell Significance Index: -3.1000
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: -0.2232
    Cell Significance Index: -3.2700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2258
    Cell Significance Index: -7.1900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2403
    Cell Significance Index: -11.3000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2422
    Cell Significance Index: -6.4800
  • Cell Name: chondroblast (CL0000058)
    Fold Change: -0.2436
    Cell Significance Index: -1.4300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2476
    Cell Significance Index: -8.1100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2520
    Cell Significance Index: -7.1900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2523
    Cell Significance Index: -11.1600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2552
    Cell Significance Index: -6.7100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.2607
    Cell Significance Index: -6.9600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2640
    Cell Significance Index: -7.7800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2709
    Cell Significance Index: -5.7700
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.2797
    Cell Significance Index: -4.5300
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.2800
    Cell Significance Index: -4.2200
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.2849
    Cell Significance Index: -5.5700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2937
    Cell Significance Index: -11.1200
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.3004
    Cell Significance Index: -6.4900
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.3035
    Cell Significance Index: -3.8300
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.3107
    Cell Significance Index: -7.7500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3294
    Cell Significance Index: -10.5500
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.3444
    Cell Significance Index: -5.0000
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3553
    Cell Significance Index: -7.5400
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.3554
    Cell Significance Index: -11.2400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3577
    Cell Significance Index: -10.2600
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.3634
    Cell Significance Index: -7.3000
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: -0.3651
    Cell Significance Index: -4.0800
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.3661
    Cell Significance Index: -7.3000
  • Cell Name: leukocyte (CL0000738)
    Fold Change: -0.3742
    Cell Significance Index: -6.3600
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.3840
    Cell Significance Index: -9.5900
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.3862
    Cell Significance Index: -8.0600
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.3863
    Cell Significance Index: -6.4700
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.3864
    Cell Significance Index: -7.6400
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.3924
    Cell Significance Index: -6.6000
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.3930
    Cell Significance Index: -9.5900
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.3938
    Cell Significance Index: -7.7500
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: -0.4154
    Cell Significance Index: -5.5200
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.4170
    Cell Significance Index: -7.2100
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.4267
    Cell Significance Index: -5.5800
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: -0.4457
    Cell Significance Index: -6.2600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** HSD3B2 is a member of the short-chain dehydrogenase/reductase (SDR) superfamily, which is characterized by the presence of a Rossmann fold and a NAD(P)-dependent oxidoreductase activity. The enzyme is specifically involved in the conversion of hydroxy-steroids to keto-steroids, facilitating the biosynthesis of androgens, glucocorticoids, and mineralocorticoids. HSD3B2 is also capable of performing steroid delta-isomerization, a reaction that is essential for the production of certain steroid hormones. **Pathways and Functions:** HSD3B2 is integral to several key pathways involved in steroid hormone biosynthesis, including: 1. **Androgen biosynthesis:** HSD3B2 is responsible for the conversion of androstenedione to testosterone, a crucial step in the biosynthesis of androgens. 2. **Glucocorticoid biosynthesis:** The enzyme plays a role in the production of cortisol, a glucocorticoid hormone that regulates various physiological processes, including immune response and metabolism. 3. **Mineralocorticoid biosynthesis:** HSD3B2 is involved in the conversion of 11-deoxycortisol to cortisol, a reaction that is essential for the production of mineralocorticoids, such as aldosterone. 4. **Steroid biosynthetic process:** HSD3B2 is a key enzyme in the steroid biosynthetic pathway, which is responsible for the production of a wide range of steroid hormones. **Clinical Significance:** HSD3B2 has significant implications for various diseases and disorders, including: 1. **Hypertension:** Dysregulation of mineralocorticoid biosynthesis, mediated by HSD3B2, can contribute to hypertension. 2. **Diabetes:** Abnormalities in glucocorticoid biosynthesis, facilitated by HSD3B2, can lead to insulin resistance and diabetes. 3. **Androgen-related disorders:** Mutations in HSD3B2 can result in androgen insensitivity syndrome, a condition characterized by impaired androgen biosynthesis. 4. **Cancer:** HSD3B2 has been implicated in the development of certain cancers, including prostate cancer, where it plays a role in androgen biosynthesis. In conclusion, HSD3B2 is a critical enzyme that plays a multifaceted role in steroid hormone biosynthesis. Further research is necessary to fully elucidate the mechanisms of HSD3B2 and its clinical implications, ultimately leading to a better understanding of the complex relationships between steroid hormones and human disease.

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 19 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.