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

HSD17B3 Gene

protein-coding   GIFtS: 66
GCID: GC09M098998

Hydroxysteroid (17-Beta) Dehydrogenase 3

  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
Hydroxysteroid (17-Beta) Dehydrogenase 31 2     Short Chain Dehydrogenase/Reductase Family 12C1
EDH17B32 3 5     17-beta-HSD32
Testicular 17-Beta-Hydroxysteroid Dehydrogenase2 3     SDR12C22
17-Beta-HSD 32 3     Short Chain Dehydrogenase/Reductase Family 12C, Member 22
17-Beta-Hydroxysteroid Dehydrogenase Type 32 3     Testosterone 17-Beta-Dehydrogenase 32
Member 21     EC 1.1.1.643

External Ids:    HGNC: 52121   Entrez Gene: 32932   Ensembl: ENSG000001309487   OMIM: 6055735   UniProtKB: P370583   

Export aliases for HSD17B3 gene to outside databases

Previous GC identifers: GC09M089811 GC09M090741 GC09M092455 GC09M094377 GC09M096077 GC09M098037 GC09M068608


(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 HSD17B3 Gene:
This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the
conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in
male pseudohermaphroditism with gynecomastia. (provided by RefSeq, Jul 2008)

GeneCards Summary for HSD17B3 Gene: 
HSD17B3 (hydroxysteroid (17-beta) dehydrogenase 3) is a protein-coding gene. Diseases associated with HSD17B3 include pseudohermaphroditism, and gynecomastia, and among its related super-pathways are Androstenedione and testosterone biosynthesis and metabolism p.1 and Metabolic pathways. GO annotations related to this gene include testosterone 17-beta-dehydrogenase (NADP+) activity and nucleotide binding. An important paralog of this gene is HSD17B12.

UniProtKB/Swiss-Prot: DHB3_HUMAN, P37058
Function: Favors the reduction of androstenedione to testosterone. Uses NADPH while the two other EDH17B enzymes
use NADH

Gene Wiki entry for HSD17B3 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_000009.11  NT_008470.19  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HSD17B3 gene promoter:
         ATF-2   Nkx5-1   PPAR-gamma1   POU2F1   POU2F1b   POU2F1a   PPAR-gamma2   POU2F1c   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHSD17B3 promoter sequence
   Search SABiosciences Chromatin IP Primers for HSD17B3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HSD17B3


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

Entrez Gene cytogenetic band: 9q22   Ensembl cytogenetic band:  9q22.32   HGNC cytogenetic band: 9q22

HSD17B3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSD17B3 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M098998:  view genomic region     (about GC identifiers)

Start:
98,997,588 bp from pter      End:
99,064,434 bp from pter
Size:
66,847 bases      Orientation:
minus 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: DHB3_HUMAN, P37058 (See protein sequence)
Recommended Name: Testosterone 17-beta-dehydrogenase 3  
Size: 310 amino acids; 34516 Da

Explore the universe of human proteins at neXtProt for HSD17B3: NX_P37058

Explore proteomics data for HSD17B3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P37058

  • HSD17B3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HSD17B3 Protein Expression
    REFSEQ proteins: NP_000188.1  
    ENSEMBL proteins: 
     ENSP00000364412   ENSP00000364411  
    Reactome Protein details: P37058
    Human Recombinant Protein Products for HSD17B3: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0043231intracellular membrane-bounded organelle TAS8075637

    HSD17B3 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: 
    SDRC3: Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3

    4 InterPro protein domains:
     IPR020904 Sc_DH/Rdtase_CS
     IPR002347 Glc/ribitol_DH
     IPR002198 DH_sc/Rdtase_SDR
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry P37058

    ProtoNet protein and cluster: P37058

    1 Blocks protein domain: IPB002198 Short-chain dehydrogenase/reductase SDR

    UniProtKB/Swiss-Prot: DHB3_HUMAN, P37058
    Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily


    HSD17B3 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: DHB3_HUMAN, P37058
    Function: Favors the reduction of androstenedione to testosterone. Uses NADPH while the two other EDH17B enzymes
    use NADH
    Catalytic activity: Testosterone + NADP(+) = androst-4-ene-3,17-dione + NADPH

         Genatlas biochemistry entry for HSD17B3:
    17 beta-hydroxysteroid dehydrogenase,type III,microsomal,NADP dependent,expressed predominantly in the
    testis,catalyzing the last step of testosterone biosynthesis,playing an essential role in the formation of active
    intracellular sex steroids

         Enzyme Number (IUBMB): EC 1.1.1.641

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016491oxidoreductase activity ----
    GO:0047045testosterone 17-beta-dehydrogenase (NADP+) activity IEA--
         
    HSD17B3 for ontologies           About GeneDecksing


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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 HSD17B3 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Estrone metabolism
    Estrone metabolism0.57
    Estrogen biosynthesis0.47
    Androstenedione and testosterone biosynthesis and metabolism p.10.57
    Steroid Biosynthesis0.32
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    3Androgen biosynthesis
    androgen biosynthesis0.62
    Androgen biosynthesis0.62
    4Metabolism of steroid hormones and vitamin D
    Metabolism of steroid hormones and vitamin D1.00
    Steroid hormones1.00
    5Prostate Cancer
    Prostate Cancer0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for HSD17B3
        Androstenedione and testosterone biosynthesis and metabolism p.1
    Estrone metabolism
    Estrogen biosynthesis


    3 GeneGo (Thomson Reuters) Pathways for HSD17B3
        Estrogen biosynthesis
    Estrone metabolism
    Androstenedione and testosterone biosynthesis and metabolism p.1

    4 BioSystems Pathways for HSD17B3
        Prostate Cancer
    Steroid Biosynthesis
    androgen biosynthesis
    estrogen biosynthesis

    5        Reactome Pathways for HSD17B3
        Metabolism of steroid hormones and vitamin D
    Metabolism
    Steroid hormones
    Androgen biosynthesis
    Metabolism of lipids and lipoproteins


    2         Kegg Pathways  (Kegg details for HSD17B3):
        Steroid hormone biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: DHB3_HUMAN, P37058
    Pathway: Hormone biosynthesis; testosterone biosynthesis


    HSD17B3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HSD17B3

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

    5/29 Interacting proteins for HSD17B3 (P370583 ENSP000003644124) via UniProtKB, MINT, STRING, and/or I2D (see all 29)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    MLH1P406923I2D: score=1 
    CYP11B1ENSP000002924274STRING: ENSP00000292427
    CYP17A1ENSP000003589034STRING: ENSP00000358903
    CYP19A1ENSP000002604334STRING: ENSP00000260433
    HSD3B1ENSP000003584214STRING: ENSP00000358421
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006702androgen biosynthetic process TAS--
    GO:0008152metabolic process ----
    GO:0008202steroid metabolic process TAS--
    GO:0030539male genitalia development TAS8075637
    GO:0044281small molecule metabolic process TAS--

    HSD17B3 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

    HSD17B3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for HSD17B3 (DHB3)

    7 HMDB Compounds for HSD17B3    About this table
    CompoundSynonyms CAS #PubMed Ids
    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--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--
    Testosterone(+)-testosterone (see all 86)58-22-0--
    Testosterone sulfate17-O-Sulfotestosterone (see all 10)651-45-6--

    1 DrugBank Compound for HSD17B3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--237755 17139284 17016423

    8 Novoseek inferred chemical compound relationships for HSD17B3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    17beta-hydroxysteroid 93.1 16 15924334 (2), 16797984 (2), 20346654 (1), 18992267 (1) (see all 13)
    androstenedione 85.3 13 18620056 (2), 16166196 (1), 12429500 (1), 15924334 (1) (see all 6)
    testosterone 72.3 19 15924334 (2), 20005209 (2), 20346654 (1), 9709959 (1) (see all 12)
    estrone 71.4 2 16166196 (1), 18620056 (1)
    estradiol 52 2 16166196 (1), 18620056 (1)
    nadph 33.3 1 12429500 (1)
    estrogen 25.2 1 16166196 (1)
    serine 5.98 1 12210481 (1)

    Search CenterWatch for drugs/clinical trials and news about HSD17B3 / DHB3

    (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 HSD17B3 gene: 
    NM_000197.1  

    Unigene Cluster for HSD17B3:

    Hydroxysteroid (17-beta) dehydrogenase 3
    Hs.477  [show with all ESTs]
    Unigene Representative Sequence: BC034281
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000467499 ENST00000494814 ENST00000464104 ENST00000375263(uc004awa.1 uc010msc.1)
    ENST00000484816 ENST00000463517 ENST00000375262
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    Additional mRNA sequence: 

    BC034281.1 BT019371.1 CR541894.1 U05659.1 

    4 DOTS entries:

    DT.311214  DT.96085319  DT.406630  DT.95365776 

    24/28 AceView cDNA sequences (see all 28):

    AA437076 BC034281 BI829083 CR541894 BX090487 NM_000197 AA423977 U05659 
    AL041457 CA426934 AI090853 BX114120 AA194135 BI829957 AI825362 BI826279 
    AA906442 AL041458 BI829350 AA442370 AA778628 N62871 AI631164 AW102743 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for HSD17B3    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b
    SP1:                                -     -                             -           -               
    SP2:                                                                                                
    SP3:                                                  -                             -               
    SP4:                                                                                                


    ECgene alternative splicing isoforms for HSD17B3

    (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

    HSD17B3 expression in normal human tissues (normalized intensities)      HSD17B3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGGCTGAAG
    HSD17B3 Expression
    About this image


    HSD17B3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Pre-Sertoli Cells Testis Cord
     
     Blood (Hematopoietic System)
             platelets   

    See HSD17B3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HSD17B3

    SOURCE GeneReport for Unigene cluster: Hs.477

    UniProtKB/Swiss-Prot: DHB3_HUMAN, P37058
    Tissue specificity: Testis

        SABiosciences Expression via Pathway-Focused PCR Array including HSD17B3: 
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    In Situ
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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 HSD17B3 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hsd17b31 , 5 hydroxysteroid (17-beta) dehydrogenase 31, 5 78.03(n)1
    73.44(a)1
      13 (33.26 cM)5
    154871  NM_008291.31  NP_032317.21 
     640582745 
    chicken
    (Gallus gallus)
    Aves ZNF3671 zinc finger protein 367 68.45(n)
    62.14(a)
      427474  XM_425046.3  XP_425046.3 
    zebrafish
    (Danio rerio)
    Actinopterygii BC053203.12   -- 74.09(n)   393335  BC053203.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes IFA386
    Microsomal beta-keto-reductase; contains oleate re...
    27(a)
    1 → many
    II(558685-559728)


    ENSEMBL Gene Tree for HSD17B3 (if available)
    TreeFam Gene Tree for HSD17B3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HSD17B3 gene
    HSD17B122  HSDL12  
    2 SIMAP similar genes for HSD17B3 using alignment to 3 protein entries:     DHB3_HUMAN (see all proteins):
    HSDL1    HSD17B12

    HSD17B3 for paralogs           About GeneDecksing



    (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

    10/1556 SNPs in HSD17B3 are shown (see all 1556)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0160734
    Male pseudohermaphrodism with gynecomastia (MPH)4--see VAR_0160732 C Y mis40--------
    VAR_0160724
    Male pseudohermaphrodism with gynecomastia (MPH)4--see VAR_0160722 F I mis40--------
    VAR_0069554
    Male pseudohermaphrodism with gynecomastia (MPH)4--see VAR_0069552 A V mis40--------
    VAR_0162034
    Male pseudohermaphrodism with gynecomastia (MPH)4--see VAR_0162032 E D mis40--------
    VAR_0160744
    Male pseudohermaphrodism with gynecomastia (MPH)4--see VAR_0160742 P L mis40--------
    VAR_0160714
    Male pseudohermaphrodism with gynecomastia (MPH)4--see VAR_0160712 V E mis40--------
    VAR_0160694
    Male pseudohermaphrodism with gynecomastia (MPH)4--see VAR_0160692 N S mis40--------
    VAR_0160674
    Male pseudohermaphrodism with gynecomastia (MPH)4--see VAR_0160672 A T mis40--------
    VAR_0069534
    Male pseudohermaphrodism with gynecomastia (MPH)4--see VAR_0069532 R Q mis40--------
    VAR_0069544
    Male pseudohermaphrodism with gynecomastia (MPH)4--see VAR_0069542 R W mis40--------

    HapMap Linkage Disequilibrium report for HSD17B3 (98997588 - 99064434 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for HSD17B3:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2738812CNV Deletion23290073
    esv2667821CNV Deletion23128226
    esv4565CNV Deletion18987735
    nsv6623CNV Insertion18451855
    nsv893601CNV Loss21882294


    Human Gene Mutation Database (HGMD): HSD17B3

    Locus Specific Mutation Databases (LSDB): HSD17B3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing HSD17B3
    DNA2.0 Custom Variant and Variant Library Synthesis for HSD17B3

    (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: 605573   
    OMIM disorders: 264300  
    UniProtKB/Swiss-Prot: DHB3_HUMAN, P37058
  • Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]: These individuals have unambiguous female
    external genitalia at birth, but fail to menstruate at the time of expected puberty and instead virilize as
    evidenced by growth of the phallus. Breast development may or may not take place. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 17 diseases for HSD17B3:    About MalaCards
    pseudohermaphroditism    gynecomastia    17-beta hydroxysteroid dehydrogenase iii deficiency    leydig cells hypoplasia
    prostate cancer    androgen insensitivity syndrome    hypospadias    esophageal adenocarcinoma
    narcolepsy    cytochrome p450    tuberculosis    prostatitis
    alcoholism    esophagitis    colorectal cancer    adenocarcinoma
    breast cancer

    3 diseases from the University of Copenhagen DISEASES database for HSD17B3:
    Pseudohermaphroditism     Hypospadias     Androgen insensitivity syndrome

    HSD17B3 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for HSD17B3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pseudohermaphroditism male 89.3 7 9709959 (2), 10599740 (2), 8626842 (1), 12429500 (1)
    prostate cancer 26 6 12210481 (3), 20346654 (1)

    Genatlas disease: HSD17B3
    hypospadias,pseudovaginal,perineoscrotal,male pseudohermaphroditism with elevated androstenedione

    Genetic Association Database (GAD): HSD17B3
    Human Genome Epidemiology (HuGE) Navigator: HSD17B3 (17 documents)

    Export disorders for HSD17B3 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 HSD17B3 gene, integrated from 9 sources (see all 54):
    (articles sorted by number of sources associating them with HSD17B3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Male pseudohermaphroditism caused by mutations of testicular 17 beta- hydroxysteroid dehydrogenase 3. (PubMed id 8075637)1, 2, 3, 9 Geissler W.M.... Andersson S. (1994)
    2. A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism. (PubMed id 9758445)1, 2, 9 Bilbao J.R.... Castano L. (1998)
    3. Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3). (PubMed id 9709959)1, 2, 9 Moghrabi N.... Andersson S. (1998)
    4. Association of the G289S single nucleotide polymorphism in the HSD17B3 gene with prostate cancer in Italian men. (PubMed id 12210481)1, 4, 9 Margiotti K....Reichardt J.K. (2002)
    5. Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency. (PubMed id 11158067)1, 2, 9 Lindqvist A.... Andersson S. (2001)
    6. Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolis m and breast cancer risk in the NCI breast and prostate cancer cohort consortiu m. (PubMed id 20634197)1, 4 Canzian F....Feigelson H.S. (2010)
    7. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (2010)
    8. Genetic Polymorphisms of 17beta-Hydroxysteroid Dehydr ogenase 3 and the Risk of Hypospadias. (PubMed id 20059664)1, 4 Sata F....Kishi R. (2010)
    9. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (2010)
    10. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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      (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: 3293 HGNC: 5212 AceView: HSD17B3 Ensembl:ENSG00000130948 euGenes: HUgn3293
    ECgene: HSD17B3 Kegg: 3293 H-InvDB: HSD17B3

    (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 HSD17B3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HSD17B3
    NIEHS-SNPshttp://egp.gs.washington.edu/data/hsd17b3/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HSD17B3 gene:
    Search GeneIP for patents involving HSD17B3

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



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