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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
 Explore 19 diseases affiliated with
HSD17B3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for HSD17B3    

Aliases
for HSD17B3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Hydroxysteroid (17-Beta) Dehydrogenase 31 2     17-Beta-Hydroxysteroid Dehydrogenase Type 32 3
EDH17B32 3 5     17-Beta-HSD31
SDR12C21 2     Short Chain Dehydrogenase/Reductase Family 12C, Member 22
Testicular 17-Beta-Hydroxysteroid Dehydrogenase2 3     Testosterone 17-Beta-Dehydrogenase 32
17-Beta-HSD 32 3     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


Summaries
for HSD17B3 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008470.19  
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 plasmid: HSD17B3 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

Proteins
for HSD17B3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P37058

    • HSD17B3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000188.1  
    ENSEMBL proteins: 
     ENSP00000364412   ENSP00000364411  
    Reactome Protein details: P37058
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    Browse Proteins at Uscn

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005792microsome ----
    GO:0043231intracellular membrane-bounded organelle TAS8075637


    HSD17B3 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for HSD17B3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HSD17B3 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: 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


    Function
    for HSD17B3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

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    Inhib. RNA
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0004303estradiol 17-beta-dehydrogenase activity ----
    GO:0016491oxidoreductase activity ----
    GO:0047045testosterone 17-beta-dehydrogenase (NADP+) activity IEA--
    GO:0050327testosterone 17-beta-dehydrogenase (NAD+) activity ----


    HSD17B3 for ontologies           About GeneDecksing



    Pathways & Interactions
    for HSD17B3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Estrone metabolism
    		Estrone metabolism1.00
    		Estrogen biosynthesis0.47
    		Estrone metabolism1.00
    		Estrogen biosynthesis0.47
    		Androstenedione and testosterone biosynthesis and metabolism p.10.57
    		Steroid Biosynthesis0.21
    		Androstenedione and testosterone biosynthesis and metabolism p.10.57
    2Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    3Androgen biosynthesis
    		Androgen biosynthesis1.00
    		androgen biosynthesis0.75
    4Vitamin D (calciferol) metabolism
    		Metabolism of steroid hormones and vitamin D0.27
    		Steroid hormones0.27
    5estrogen biosynthesis
    		estrogen biosynthesis1.00

    Pathway sources
    See GeneCards unified pathways
    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

    3 BioSystems Pathways for HSD17B3 
        estrogen biosynthesis
    androgen biosynthesis
    Steroid 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): 5/32 biological process terms (GO ID links to tree view) (see all 32):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006082organic acid metabolic process ----
    GO:0006694steroid biosynthetic process ----
    GO:0006702androgen biosynthetic process TAS--
    GO:0008202steroid metabolic process TAS--
    GO:0009635response to herbicide ----


    HSD17B3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for HSD17B3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 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 

    Transcripts
    for HSD17B3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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:
    ENST00000464104 ENST00000494814 ENST00000467499 ENST00000375263(uc004awa.1 uc010msc.1)
    ENST00000484816 ENST00000463517 ENST00000375262

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    Additional cDNA 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):

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

    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

    Expression
    for HSD17B3 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTGGCTGAAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    HSD17B3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisTestis InterstitiumLeydig CellsTestis
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    for HSD17B3 gene

    (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 eukaryotes.

    Orthologs for HSD17B3 gene from 7/23 species (see all 23)    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 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG60123 oxidoreductase, acting on the CH-OH group
    of more    		 34(a)   36B2   --
    worm
    (Caenorhabditis elegans)    		 Secernentea C06B3.43 estradiol 17 beta-dehydrogenase 37(a)
    (best of 4)    		   V(13909095-13910574)   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons KCR26
    KCR16
    		 beta-ketoacyl reductase 1
    		 29(a)
    28(a)
    		 many ↔ many
    many ↔ many
    		 1(8674056-8676408)
    1(25391460-25393610)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 10)    		 oxidoreductase, short chain dehydrogenase/reductas...
    oxidoreductase, short chain dehydrogenase/reductas...
    (see all 10)    		 27(a)
    27(a)
    (see all 10)    		 many ↔ many
    many ↔ many
    (see all 10)    		 4(23990480-23993837)
    2(23235758-23238771)


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

    Paralogs
    for HSD17B3 gene

    (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



    Genomic Variants
    for HSD17B3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1270 NCBI SNPs in HSD17B3 are shown (see all 1270)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1194810751,2
    		C,Fpathogenic70104112(-) TAGCCG/AGACGC 2 /Q /R mis11Minor allele frequency- A:0.00NA 4542
    rs289390851,2
    		Cpathogenic70118137(-) TGTCTC/TGACTG 2 S L mis1 ese31Minor allele frequency- T:0.00NA 4552
    rs81905731,2
    		C,F--68608370(-) agagaG/Catgac 1 -- ds50016Minor allele frequency- C:0.00NS NA EU CSAM EA 544
    rs81905711,2
    		C,F,--68608609(-) tgaagG/Ccttca 1 -- ds50014Minor allele frequency- C:0.02NS WA CSA 279
    rs359078961,2
    		C,--68608698(-) CAGATC/TTCAAT 1 -- ds50016Minor allele frequency- T:0.01NA EU CSAM EA 382
    rs22248641,2
    		C--68609049(+) TGGAAG/AGCACC 2 /A syn15Minor allele frequency- A:0.00MN 408
    rs81905691,2
    		C,F,--68609296(-) TCCAAA/CGGAGT 1 -- int15Minor allele frequency- C:0.02NS NA 220
    rs735432601,2
    		C,--68609829(+) TACTCA/GGGAGG 1 -- int10--------
    rs81905681,2
    		C,F,H,--68610111(-) TGCTGC/AATGTT 1 -- int129Minor allele frequency- A:0.03NS EA NA CSA WA 2842
    rs786563101,2
    		F,--68610692(+) CTCCAT/CCTTTG 1 -- int11Minor allele frequency- C:0.05WA 118

    HapMap Linkage Disequilibrium report for HSD17B3 (98997588 - 99064434 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for HSD17B3
         1 Indel: 42661
    Human Gene Mutation Database (HGMD): HSD17B3

    Locus Specific Mutation Databases (LSDB): HSD17B3

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HSD17B3
    DNA2.0 Custom Variant and Variant Library Synthesis for HSD17B3

    Disorders / Diseases
    for HSD17B3 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    HSD17B3 for disorders           About GeneDecksing

    OMIM gene information: 605573   
    OMIM disorders: 264300  
    UniProtKB/Swiss-Prot: DHB3_HUMAN, P37058
  • Defects in HSD17B3 are the cause of 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

    19 diseases for HSD17B3:    About MalaCards
    17-beta hydroxysteroid dehydrogenase 3 deficiency    pseudohermaphroditism    gynecomastia    androgen insensitivity syndrome
    leydig cells hypoplasia    virilization    hypospadias    prostate cancer
    colorectal cancer    prostatitis    breast cancer    esophagitis
    cholesterol    tuberculosis    adenocarcinoma    malaria
    neuronitis    mycobacterium tuberculosis    alcoholism

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

    2 Novoseek 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

    Publications
    for HSD17B3 gene

    (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 52):
    (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. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (2009)
    7. Association of habitual smoking and drinking with single nucleotide polymorphism (SNP) in 40 candidate genes: data from random population-based Japanese samples. (PubMed id 15654505)1, 4 Liu Y....Tsugane S. (2005)
    8. The valine allele of the V89L polymorphism in the 5-alpha-reductase gene confers a reduced risk for hypospadias. (PubMed id 16174723)1, 4 Thai H.T....Nordenskjold A. (2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. (PubMed id 8550739)1, 2 Andersson S.... Russel D.W. (1996)

    External Searches for HSD17B3 gene

    (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)

    Genome Databases showing HSD17B3 gene

    (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

    Other Databases showing HSD17B3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing HSD17B3 gene

    (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/

    Intellectual Property
    for HSD17B3 gene

    (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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