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HSD17B3 Gene

protein-coding   GIFtS: 65
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 17-beta hydroxysteroid dehydrogenase 3 deficiency, and gynecomastia. GO annotations related to this gene include testosterone 17-beta-dehydrogenase (NADP+) activity. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   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 Chromatin IP Primers for HSD17B3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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


See HSD17B3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_000188.1  
ENSEMBL proteins: 
 ENSP00000364412   ENSP00000364411  
Reactome Protein details: P37058

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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:    About this table

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


Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
endoplasmic reticulum4
extracellular2
cytosol1
lysosome1
nucleus1
peroxisome1

Gene Ontology (GO): 2 cellular component terms:    About this table

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

HSD17B3 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for HSD17B3 About   (see all 8)  
See pathways by source

SuperPathContained pathways About
1Metabolism
Metabolism0.38
Metabolism of lipids and lipoproteins0.37
Metabolic pathways0.38
2Estrone metabolism
Estrone metabolism0.57
Estrogen biosynthesis0.47
Androstenedione and testosterone biosynthesis and metabolism p.10.57
3Triglyceride Biosynthesis
Triglyceride Biosynthesis
Fatty Acyl-CoA Biosynthesis0.00
Synthesis of very long-chain fatty acyl-CoAs0.00
4Prostate Cancer
Prostate Cancer0.32
Steroid Biosynthesis0.00
5superpathway of steroid hormone biosynthesis
superpathway of steroid hormone biosynthesis
androgen biosynthesis0.00

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


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
superpathway of steroid hormone biosynthesis
Steroid Biosynthesis
androgen biosynthesis

2 Reactome Pathways for HSD17B3
    Androgen biosynthesis
Synthesis of very long-chain fatty acyl-CoAs


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

    Pathway & Disease-focused RT2 Profiler PCR Array including HSD17B3: 

          Drug Metabolism in human mouse rat

Interactions:

    Search GeneGlobe Interaction Network for HSD17B3

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

Selected Interacting proteins for HSD17B3 (P370583 ENSP000003644124) via UniProtKB, MINT, STRING, and/or I2D (see all 50)
InteractantInteraction Details
GeneCardExternal ID(s)
MLH1P406923I2D: score=1 
CYP11B1ENSP000002924274STRING: ENSP00000292427
CYP17A1ENSP000003589034STRING: ENSP00000358903
CYP19A1ENSP000002604334STRING: ENSP00000260433
HSD3B1ENSP000003584214STRING: ENSP00000358421
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Gene Ontology (GO): Selected biological process terms (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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

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)



HSD17B3 for compounds           About GeneDecksing



(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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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 

Selected AceView cDNA sequences (see all 28):

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

(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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HSD17B3 expression in normal human tissues (normalized intensities)
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
 
 Testis (Reproductive System)    fully expand to see all 2 entries
         Pre-Sertoli Cells Testis Cord
HSD17B3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

HSD17B3 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.477

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

    Pathway & Disease-focused RT2 Profiler PCR Array including HSD17B3: 
          Drug Metabolism in human mouse rat

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

Orthologs for HSD17B3 gene from Selected species (see all 13)    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 67.11(n)
60.53(a)
  427474  XM_425046.4  XP_425046.4 
tropical clawed frog
(Xenopus tropicalis)
Amphibia hsd17b31 hydroxysteroid (17-beta) dehydrogenase 3 64.34(n)
61.03(a)
  101730254  XM_004911405.1  XP_004911462.1 
zebrafish
(Danio rerio)
Actinopterygii BC053203.12   -- 74.09(n)   393335  BC053203.1 
worm
(Caenorhabditis elegans)
Secernentea C06B3.43 estradiol 17 beta-dehydrogenase 37(a)
(best of 4)
  V(13909095-13910574)   --
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IFA386
Microsomal beta-keto-reductase; contains oleate re...
26(a)
1 → many
II(558685-559728) YBR159W


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)
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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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for HSD17B3 (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
----------
rs289390851,2,,4
CMale pseudohermaphrodism with gynecomastia (MPH)4 pathogenic199019607(-) TGTCTC/TGACTG 2 S L mis1 ese31Minor allele frequency- T:0.00NA 4552
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--------

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

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(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.)
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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
    17-beta hydroxysteroid dehydrogenase 3 deficiency    gynecomastia    pseudohermaphroditism    leydig cells hypoplasia
    androgen insensitivity syndrome    asperger syndrome    hypospadias    narcolepsy
    prostate cancer    prostatitis    esophagitis    tuberculosis
    adenocarcinoma    colorectal cancer    multiple myeloma    myeloma
    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)
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    PubMed articles for HSD17B3 gene, integrated from 10 sources (see all 56):
    (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. (Nat. Genet. 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. (Eur. J. Endocrinol. 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. (J. Clin. Endocrinol. Metab. 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. (Prostate 2002)
    5. Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency. (PubMed id 11158067)1, 2, 9 Lindqvist A.... Andersson S. (J. Clin. Endocrinol. Metab. 2001)
    6. Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium. (PubMed id 20634197)1, 4 Canzian F....Feigelson H.S. (Hum. Mol. Genet. 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. (Hum. Genet. 2010)
    8. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (Carcinogenesis 2010)
    9. Genetic polymorphisms of 17 I^-hydroxysteroid dehydrogenase 3 and the risk of hypospadias. (PubMed id 20059664)1, 4 Sata F....Kishi R. (J Sex Med 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. (Hum. Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 3293 HGNC: 5212 AceView: HSD17B3 Ensembl:ENSG00000130948 euGenes: HUgn3293
    ECgene: HSD17B3 Kegg: 3293 H-InvDB: HSD17B3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for HSD17B3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HSD17B3[genesymbol]
    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.)
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    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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