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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HSD3B2 Gene

protein-coding   GIFtS: 65
GCID: GC01P119957

Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid
Delta-Isomerase 21 2
     3-Beta-Hydroxy-5-Ene Steroid Dehydrogenase2
3 Beta-Hydroxysteroid Dehydrogenase/Delta 5-->4-Isomerase Type II2 3     3-Beta-Hydroxy-Delta(5)-Steroid Dehydrogenase2
3-Beta-HSD Adrenal And Gonadal Type2 3     HSD3B2
3-Beta-HSD II2 3     HSDB2
Member 21     SDR11E22
Short Chain Dehydrogenase/Reductase Family 11E1     Delta 5-Delta 4-Isomerase Type II2
3 Beta-HSD Type II2     Progesterone Reductase2
3 Beta-Hydroxysteroid Dehydrogenase Type II, Delta 5-Delta 4-Isomerase
Type II, 3 Beta-HSD Type II2
     Short Chain Dehydrogenase/Reductase Family 11E, Member 22
3 Beta-Hydroxysteroid Dehydrogenase/Delta 5-->4-Isomerase Type 22     HSDB3B3

External Ids:    HGNC: 52181   Entrez Gene: 32842   Ensembl: ENSG000002038597   OMIM: 6138905   UniProtKB: P264393   

Export aliases for HSD3B2 gene to outside databases

Previous GC identifers: GC01P120404 GC01P118795 GC01P119104 GC01P119305 GC01P119306 GC01P119669 GC01P119759 GC01P117816


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HSD3B2 Gene:
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)

GeneCards Summary for HSD3B2 Gene: 
HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2) is a protein-coding gene. Diseases associated with HSD3B2 include 3-beta-hydroxysteroid dehydrogenase deficiency, and congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency, and among its related super-pathways are Glucocorticoid biosynthesis and Metabolic pathways. GO annotations related to this gene include steroid delta-isomerase activity and nucleotide binding. An important paralog of this gene is SDR42E1.

UniProtKB/Swiss-Prot: 3BHS2_HUMAN, P26439
Function: 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of
Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic
system plays a crucial role in the biosynthesis of all classes of hormonal steroids

Gene Wiki entry for HSD3B2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HSD3B2 gene promoter:
         Max1   Elk-1   Sox5   USF1   YY1   C/EBPalpha   USF-1   HOXA5   Meis-1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHSD3B2 promoter sequence
   Search SABiosciences Chromatin IP Primers for HSD3B2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HSD3B2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p13.1   Ensembl cytogenetic band:  1p12   HGNC cytogenetic band: 1p12

HSD3B2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSD3B2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P119957:  view genomic region     (about GC identifiers)

Start:
119,957,554 bp from pter      End:
119,965,662 bp from pter
Size:
8,109 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: 3BHS2_HUMAN, P26439 (See protein sequence)
Recommended Name: 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2  
Size: 372 amino acids; 42052 Da
Subcellular location: Endoplasmic reticulum membrane; Single-pass membrane protein. Mitochondrion membrane;
Single-pass membrane protein
Sequence caution: Sequence=AAC60600.1; Type=Frameshift; Positions=186; Note=The frameshift is caused by a single
nucleotide insertion which is found in AH2;
Secondary accessions: A2RRA5 Q16010 Q53GD4 Q6AI10 Q6LDB9 Q99890 Q9UD08
Alternative splicing: 2 isoforms:  P26439-1   P26439-2   

Explore the universe of human proteins at neXtProt for HSD3B2: NX_P26439

Explore proteomics data for HSD3B2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P26439

  • HSD3B2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HSD3B2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000189.1  NP_001159592.1  

    ENSEMBL proteins: 
     ENSP00000388292   ENSP00000358424   ENSP00000445122  
    Reactome Protein details: P26439
    Human Recombinant Protein Products for HSD3B2: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005743mitochondrial inner membrane ISS--
    GO:0005758mitochondrial intermembrane space ISS--
    GO:0005783endoplasmic reticulum NAS1944309
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral to membrane NAS1944309

    HSD3B2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SDRE: Short chain dehydrogenase/reductase superfamily / Extended SDR fold

    2 InterPro protein domains:
     IPR002225 3Beta_OHSteriod_DH/Estase
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry P26439

    ProtoNet protein and cluster: P26439

    1 Blocks protein domain: IPB002225 3-beta hydroxysteroid dehydrogenase/isomerase

    UniProtKB/Swiss-Prot: 3BHS2_HUMAN, P26439
    Similarity: Belongs to the 3-beta-HSD family


    HSD3B2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 3BHS2_HUMAN, P26439
    Function: 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of
    Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic
    system plays a crucial role in the biosynthesis of all classes of hormonal steroids
    Catalytic activity: A 3-beta-hydroxy-Delta(5)-steroid + NAD(+) = a 3-oxo-Delta(5)-steroid + NADH
    Catalytic activity: A 3-oxo-Delta(5)-steroid = a 3-oxo-Delta(4)-steroid

         Genatlas biochemistry entry for HSD3B2:
    hydroxysteroid 3-beta,dehydrogenase/steroid delta5-delta4 isomerase,type II,microsomal,expressed in adrenals and
    gonads,initiating the pathways of mineralocorticoid glucocorticoid and sex hormone biosynthesis

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:00038543-beta-hydroxy-delta5-steroid dehydrogenase activity IDA1944309
    GO:0004769steroid delta-isomerase activity IDA1944309
    GO:0008831dTDP-4-dehydrorhamnose reductase activity ----
    GO:0016491oxidoreductase activity ----
         
    HSD3B2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HSD3B2:
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for HSD3B2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HSD3B2 
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    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate HSD3B2:
    hsa-miR-1827
    SwitchGear 3'UTR luciferase reporter plasmidHSD3B2 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HSD3B2 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Mineralocorticoid biosynthesis
    Mineralocorticoid biosynthesis0.71
    Glucocorticoid & Mineralcorticoid Metabolism0.67
    Glucocorticoid biosynthesis0.71
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    3Estrone metabolism
    Androstenedione and testosterone biosynthesis and metabolism p.10.57
    Steroid Biosynthesis0.32
    4Metabolism of steroid hormones and vitamin D
    Metabolism of steroid hormones and vitamin D1.00
    Steroid hormones1.00
    5Androgen biosynthesis
    Androgen biosynthesis0.62

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for HSD3B2
        Androstenedione and testosterone biosynthesis and metabolism p.1


    1 GeneGo (Thomson Reuters) Pathway for HSD3B2
        Androstenedione and testosterone biosynthesis and metabolism p.1

    3 BioSystems Pathways for HSD3B2
        Prostate Cancer
    Steroid Biosynthesis
    Glucocorticoid & Mineralcorticoid Metabolism


    5/7        Reactome Pathways for HSD3B2 (see all 7)
        Glucocorticoid biosynthesis
    Metabolism of steroid hormones and vitamin D
    Mineralocorticoid biosynthesis
    Metabolism
    Steroid hormones


    3         Kegg Pathways  (Kegg details for HSD3B2):
        Steroid hormone biosynthesis
    Metabolic pathways
    Ovarian steroidogenesis

    UniProtKB/Swiss-Prot: 3BHS2_HUMAN, P26439
    Pathway: Lipid metabolism; steroid biosynthesis


    HSD3B2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HSD3B2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/42 Interacting proteins for HSD3B2 (ENSP000003584244) via UniProtKB, MINT, STRING, and/or I2D (see all 42)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CYP11A1ENSP000002680534STRING: ENSP00000268053
    CYP11B1ENSP000002924274STRING: ENSP00000292427
    CYP17A1ENSP000003589034STRING: ENSP00000358903
    CYP19A1ENSP000002604334STRING: ENSP00000260433
    CYP1A1ENSP000003690504STRING: ENSP00000369050
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006694steroid biosynthetic process IDA1944309
    GO:0006702androgen biosynthetic process TAS--
    GO:0006704glucocorticoid biosynthetic process TAS--
    GO:0006705mineralocorticoid biosynthetic process TAS--
    GO:0008152metabolic process ----

    HSD3B2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HSD3B2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HSD3B2 (3BHS2)

    10/23 HMDB Compounds for HSD3B2 (see all 23)    About this table
    CompoundSynonyms CAS #PubMed Ids
    11b,17a,21-Trihydroxypreg-nenolone11beta,17alpha,21-Trihydroxypregnenolone (see all 2)----
    16a-Hydroxyandrost-4-ene-3,17-dione4-Androsten-16alpha-ol-3,17-dione (see all 2)63-02-5--
    16a-Hydroxydehydroisoandrosterone16-Hydroxydehydroandrosterone (see all 10)1232-73-1--
    17-Hydroxyprogesterone17-OHP (see all 15)68-96-2--
    17a,21-Dihydroxypreg-nenolone17alpha,21-Dihydroxypregnenolone (see all 2)1167-48-2--
    17a-Hydroxypregnenolone17-Hydroxy-D5-pregnenolone (see all 9)387-79-1--
    21-Hydroxypregnenolone(3b)-3,21-dihydroxy-Pregn-5-en-20-one (see all 9)1164-98-3--
    Androst-5-ene-3b,17b-diol3beta,17beta-Dihydroxy-5-androstene (see all 13)521-17-5--
    Androstenedione(4)-Androsten-3,17-dione (see all 14)63-05-8--
    Campest-4-en-3-one(24R)-ergost-4-en-3-one ----

    4 DrugBank Compounds for HSD3B2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Trilostane-- 13647-35-3targetinhibitor18991633 1944305 7996177 8809191 2268554 7989460 6362415
    NADHbeta-DPNH (see all 18)606-68-8target--239964 17139284 1911436 3476810 17016423
    CorticotropinACTH (see all 5)9002-60-2enzymeinducer15208301
    MedroxyprogesteroneCBP-1011 (see all 9)520-85-4enzymeinhibitor10372718

    10/17 Novoseek inferred chemical compound relationships for HSD3B2 gene (see all 17)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    3beta-hydroxysteroid 94.9 54 10651755 (2), 10599696 (2), 10843183 (2), 8185809 (1) (see all 42)
    17-hydroxypregnenolone 82.5 2 10651755 (2)
    dhea 79.4 19 15208301 (2), 18796549 (1), 11948020 (1), 18683055 (1) (see all 9)
    dehydroepiandrosterone sulfate 69.4 1 15208301 (1)
    steroid 66 11 17689071 (2), 17559353 (1), 19505920 (1), 12790800 (1) (see all 8)
    androstenedione 65.4 1 18796549 (1)
    17beta-hydroxysteroid 64.9 1 18410552 (1)
    testosterone 58.8 12 17945481 (2), 20083153 (2), 10417059 (1), 17138841 (1) (see all 9)
    acth 56.9 5 10651755 (2), 12608938 (2), 15208301 (1)
    dihydrotestosterone 48.7 4 10417059 (1), 17823934 (1)

    Search CenterWatch for drugs/clinical trials and news about HSD3B2 / 3BHS2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HSD3B2 gene (2 alternative transcripts): 
    NM_000198.3  NM_001166120.1  

    Unigene Cluster for HSD3B2:

    Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
    Hs.654399  [show with all ESTs]
    Unigene Representative Sequence: BC131488
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000433745 ENST00000369416(uc001eht.3) ENST00000471656 ENST00000443865
    ENST00000448448 ENST00000543831(uc001ehs.3 uc021ost.1)
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HSD3B2
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    Additional mRNA sequence: 

    AK222997.1 AK313413.1 BC038419.1 BC131488.1 M67466.1 

    24/29 DOTS entries (see all 29):

    DT.92462457  DT.86852328  DT.92462414  DT.95320228  DT.455031  DT.92462459  DT.121332808  DT.121332899 
    DT.100824388  DT.117305  DT.95320272  DT.100824387  DT.100817910  DT.121332832  DT.121332880  DT.92462443 
    DT.92462464  DT.100824389  DT.117306  DT.121332846  DT.121332869  DT.75196507  DT.91910027  DT.95320230 

    24/483 AceView cDNA sequences (see all 483):

    AL540716 BX402476 BX094604 CR623220 CR601599 AL541135 CR613080 AV709975 
    AL541617 AV703757 AV708376 AV710814 CR600450 AL551573 BU752230 AV710708 
    M27137 AV710724 AV708904 CR613981 CR621102 AL552571 BQ007389 BX417630 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HSD3B2 expression in normal human tissues (normalized intensities)      HSD3B2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGAGAAAAA
    HSD3B2 Expression
    About this image


    HSD3B2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Adrenal Gland (Endocrine System)    fully expand to see all 3 entries
             gland/adrenal gland/medulla   
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Metanephros
             visceral organ/metanephros/calyx   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ   
     
     Testis (Reproductive System)
             Testicular Interstitial Cells Testis Interstitium
     
     Ovary (Reproductive System)
             Theca Cells Antral Follicle

    See HSD3B2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HSD3B2

    SOURCE GeneReport for Unigene cluster: Hs.654399

    UniProtKB/Swiss-Prot: 3BHS2_HUMAN, P26439
    Tissue specificity: Expressed in adrenal gland, testis and ovary

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for HSD3B2 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hsd3b11 , 5 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and more1, 5 76.46(n)1
    70.89(a)1
      3 (42.89 cM)5
    154921  NM_008293.31  NP_032319.11 
     988521945 
    chicken
    (Gallus gallus)
    Aves HSD3B21 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and more 61.52(n)
    56.91(a)
      396015  NM_205118.1  NP_990449.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    49(a)
    1 → many
    GL343218.1(413351-419268)
    zebrafish
    (Danio rerio)
    Actinopterygii AY279108.12   -- 75.74(n)    AY279108.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG77241 CG7724 45.53(n)
    31.01(a)
      39918  NM_140700.2  NP_648957.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERG266
    C-3 sterol dehydrogenase, catalyzes the second of ...
    24(a)
    1 → many
    VII(495453-496502)


    ENSEMBL Gene Tree for HSD3B2 (if available)
    TreeFam Gene Tree for HSD3B2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HSD3B2 gene
    SDR42E12  SDR42E22  HSD3B72  HSD3B12  NSDHL2  
    4 SIMAP similar genes for HSD3B2 using alignment to 2 protein entries:     3BHS2_HUMAN (see all proteins):
    HSD3B1    3-HSD 1    HSD3B7    SDR42E2

    HSD3B2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for HSD3B2
    PGOHUM00000244870


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/345 SNPs in HSD3B2 are shown (see all 345)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0105204
    Adrenal hyperplasia 2 (AH2)4--see VAR_0105202 A T mis40--------
    VAR_0656654
    Adrenal hyperplasia 2 (AH2)4--see VAR_0656652 P L mis40--------
    VAR_0000094
    Adrenal hyperplasia 2 (AH2)4--see VAR_0000092 Y N mis40--------
    VAR_0105314
    Adrenal hyperplasia 2 (AH2)4--see VAR_0105312 P Q mis40--------
    VAR_0000084
    Adrenal hyperplasia 2 (AH2)4--see VAR_0000082 A P mis40--------
    VAR_0105264
    Adrenal hyperplasia 2 (AH2)4--see VAR_0105262 L R mis40--------
    VAR_0154114
    Adrenal hyperplasia 2 (AH2)4--see VAR_0154112 P T mis40--------
    VAR_0000114
    Adrenal hyperplasia 2 (AH2)4--see VAR_0000112 T R mis40--------
    VAR_0105344
    Adrenal hyperplasia 2 (AH2)4--see VAR_0105342 T M mis40--------
    VAR_0105214
    Adrenal hyperplasia 2 (AH2)4--see VAR_0105212 N S mis40--------

    HapMap Linkage Disequilibrium report for HSD3B2 (119957554 - 119965662 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for HSD3B2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2716762CNV Deletion23290073
    esv34089CNV Loss18971310
    nsv2599CNV Loss18451855
    nsv524681CNV Gain19592680


    Human Gene Mutation Database (HGMD): HSD3B2

    Locus Specific Mutation Databases (LSDB): HSD3B2
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613890    OMIM disorders: --

    UniProtKB/Swiss-Prot: 3BHS2_HUMAN, P26439
  • Adrenal hyperplasia 2 (AH2) [MIM:201810]: A form of congenital adrenal hyperplasia, a common recessive
    disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen
    excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes
    with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the
    most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone
    biosynthesis, 'non-classic form' or late-onset (NC or LOAH)and 'cryptic' (asymptomatic). In AH2, virilization is
    much less marked or does not occur. AH2 is frequently lethal in early life. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Note=Mild HSD3B2 deficiency in hyperandrogenic females is associated with characteristic traits of
    polycystic ovary syndrome, such as insulin resistance and luteinizing hormone hypersecretion

  • 20/31 diseases for HSD3B2 (see all 31):    About MalaCards
    3-beta-hydroxysteroid dehydrogenase deficiency    congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency    3-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia    hyperandrogenism
    prostate cancer    pseudohermaphroditism    familial prostate cancer    addison's disease
    21-hydroxylase deficiency    adrenocortical carcinoma    polycystic ovary syndrome    precocious puberty
    hypospadias    cushing's syndrome    esophageal adenocarcinoma    thyroid cancer
    essential hypertension    infertility    insulin resistance    hypertension

    1 disease from the University of Copenhagen DISEASES database for HSD3B2:
    Hypospadias

    HSD3B2 for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for HSD3B2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adrenal hyperplasia congenital 80.5 14 8004103 (2), 11196452 (1), 18252794 (1), 10843183 (1) (see all 9)
    pseudohermaphroditism 72.3 1 8185809 (1)
    virilization 69.4 4 11196452 (1), 10599696 (1), 10843183 (1), 12428206 (1)
    pseudohermaphroditism male 66.2 1 8060486 (1)
    hyperandrogenism 55.4 2 18683055 (1)
    prostate cancer 47.5 17 17823934 (3), 9294620 (3), 19505920 (2), 11912155 (2) (see all 8)
    addisons disease 40.8 1 15632317 (1)
    polycystic ovary syndrome 39.1 1 14764797 (1)
    tumors 0 4 19270420 (2), 18623241 (1), 20519819 (1)

    Genatlas disease: HSD3B2
    adrenal hyperplasia II (3-beta-hydroxysteroid dehydrogenase deficiency),male pseudohermaphroditism,with or
    without salt losing

    Genetic Association Database (GAD): HSD3B2
    Human Genome Epidemiology (HuGE) Navigator: HSD3B2 (27 documents)

    Export disorders for HSD3B2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HSD3B2 gene, integrated from 9 sources (see all 158):
    (articles sorted by number of sources associating them with HSD3B2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene. (PubMed id 1363812)1, 2, 3 Rheaume E.... Labrie F. (1992)
    2. The orphan nuclear receptor NGFIB regulates transcription of 3beta-hydroxysteroid dehydrogenase. implications for the control of adrenal functional zonation. (PubMed id 15208301)1, 7, 9 Bassett M.H....Rainey W.E. (2004)
    3. Refining hormonal diagnosis of type II 3beta-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping. (PubMed id 15585552)1, 4, 9 Mermejo L.M....de Castro M. (2005)
    4. SRD5A2 and HSD3B2 polymorphisms are associated with prostate cancer risk and aggressiveness. (PubMed id 17823934)1, 4, 9 Neslund-Dudas C....Rybicki B.A. (2007)
    5. Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls. (PubMed id 10651755)1, 2, 9 Marui S.... Mendonca B.B. (2000)
    6. 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)1, 2, 9 Moisan A.M.... Simard J. (1999)
    7. 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)1, 2, 9 Alos N.... Simard J. (2000)
    8. Molecular study of the 3 beta-hydroxysteroid dehydrogenase gene type II in patients with hypospadias. (PubMed id 14764821)1, 4, 9 Codner E....Cassorla F.G. (2004)
    9. Single and multigenic analysis of the association bet ween variants in 12 steroid hormone metabolism genes and risk of prostate cance r. (PubMed id 19505920)1, 4, 9 Beuten J....Leach R.J. (2009)
    10. Joint effect of HSD3B1 and HSD3B2 genes is associated with hereditary and sporadic prostate cancer susceptibility. (PubMed id 11912155)1, 4, 9 Chang B.L....Xu J. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3284 HGNC: 5218 AceView: HSD3B2andHSD3B1andLOC440606 Ensembl:ENSG00000203859 euGenes: HUgn3284
    ECgene: HSD3B2 Kegg: 3284 H-InvDB: HSD3B2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HSD3B2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HSD3B2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HSD3B2 gene:
    Search GeneIP for patents involving HSD3B2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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