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HSD17B2 Gene

protein-coding   GIFtS: 66
GCID: GC16P082068

Hydroxysteroid (17-Beta) Dehydrogenase 2

  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 21 2     Member 21
EDH17B22 3 5     Short Chain Dehydrogenase/Reductase Family 9C1
Microsomal 17-Beta-Hydroxysteroid Dehydrogenase2 3     HSD172
Testosterone 17-Beta-Dehydrogenase2 3     SDR9C22
17-Beta-HSD 22 3     Estradiol 17-Beta-Dehydrogenase 22
17-Beta-Hydroxysteroid Dehydrogenase Type 22 3     Short Chain Dehydrogenase/Reductase Family 9C, Member 22
20 Alpha-Hydroxysteroid Dehydrogenase2 3     EC 1.1.1.2393
20-alpha-HSD2 3     EC 1.1.1.623
E2DH2 3     

External Ids:    HGNC: 52111   Entrez Gene: 32942   Ensembl: ENSG000000866967   OMIM: 1096855   UniProtKB: P370593   

Export aliases for HSD17B2 gene to outside databases

Previous GC identifers: GC16P072910 GC16P083029 GC16P081807 GC16P081848 GC16P080626 GC16P067822


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for HSD17B2 Gene:
HSD17B2 (hydroxysteroid (17-beta) dehydrogenase 2) is a protein-coding gene. Diseases associated with HSD17B2 include progesterone resistance, and hereditary breast ovarian cancer. GO annotations related to this gene include 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity and estradiol 17-beta-dehydrogenase activity. An important paralog of this gene is SDR9C7.

UniProtKB/Swiss-Prot: DHB2_HUMAN, P37059
Function: Capable of catalyzing the interconversion of testosterone and androstenedione, as well as estradiol and
estrone. Also has 20-alpha-HSD activity. Uses NADH while EDH17B3 uses NADPH

Gene Wiki entry for HSD17B2 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_000016.10  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HSD17B2 gene promoter:
         STAT5B   HOXA9   HOXA9B   MyoD   HNF-3beta   SRY   PPAR-gamma1   PPAR-gamma2   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHSD17B2 promoter sequence
   Search Chromatin IP Primers for HSD17B2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HSD17B2


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

Entrez Gene cytogenetic band: 16q24.1-q24.2   Ensembl cytogenetic band:  16q23.3   HGNC cytogenetic band: 16q24.1-q24.2

HSD17B2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSD17B2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P082068:  view genomic region     (about GC identifiers)

Start:
82,068,609 bp from pter      End:
82,132,139 bp from pter
Size:
63,531 bases      Orientation:
plus 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DHB2_HUMAN, P37059 (See protein sequence)
Recommended Name: Estradiol 17-beta-dehydrogenase 2  
Size: 387 amino acids; 42785 Da
Secondary accessions: B2R7T4

Explore the universe of human proteins at neXtProt for HSD17B2: NX_P37059

Explore proteomics data for HSD17B2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See HSD17B2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002144.1  
    ENSEMBL proteins: 
     ENSP00000455992   ENSP00000199936   ENSP00000457943   ENSP00000454931   ENSP00000456529  
     ENSP00000456471  

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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:
    SDRC2: Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2

    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 P37059

    ProtoNet protein and cluster: P37059

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

    UniProtKB/Swiss-Prot: DHB2_HUMAN, P37059
    Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family


    HSD17B2 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: DHB2_HUMAN, P37059
    Function: Capable of catalyzing the interconversion of testosterone and androstenedione, as well as estradiol and
    estrone. Also has 20-alpha-HSD activity. Uses NADH while EDH17B3 uses NADPH
    Catalytic activity: 17-beta-estradiol + NAD(P)(+) = estrone + NAD(P)H
    Catalytic activity: Testosterone + NAD(+) = androstenedione + NADH
    Biophysicochemical properties: Kinetic parameters: KM=0.21 uM for estradiol; KM=0.39 uM for testosterone; KM=0.31
    uM for dihydrotestosterone; KM=0.71 uM for 20-alpha-dihydroprogesterone; KM=0.78 uM for estrone; KM=2.63 uM for
    androstenedione; Vmax=38 nmol/min/mg enzyme with estradiol as substrate; Vmax=45 nmol/min/mg enzyme with
    testosterone as substrate; Vmax=38 nmol/min/mg enzyme with dihydrotestosterone as substrate; Vmax=5.6 nmol/min/mg
    enzyme with 20-alpha-dihydroprogesterone as substrate; Vmax=6.6 nmol/min/mg enzyme with estrone as substrate;
    Vmax=11.5 nmol/min/mg enzyme with androstenedione as substrate;

         Genatlas biochemistry entry for HSD17B2:
    17-beta-hydroxysteroid dehydrogenase,type II,microsomal,NAD dependent,converting estrogens and androgens,playing
    an essential role in the formation of active intracellular sex steroids

         Enzyme Numbers (IUBMB): EC 1.1.1.621 EC 1.1.1.2391

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004303estradiol 17-beta-dehydrogenase activity IDA17538076
    GO:0016491oxidoreductase activity ----
    GO:004700617-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity TAS17538076
    GO:0047035testosterone dehydrogenase (NAD+) activity IDA8099587
         
    HSD17B2 for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Hsd17b2):
     behavior/neurological  craniofacial  embryogenesis  growth/size/body  mortality/aging 
     nervous system  renal/urinary system 

    HSD17B2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Hsd17b2tm1Mpo for HSD17B2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HSD17B2
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    2 qRT-PCR Assays for microRNAs that regulate HSD17B2:
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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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 UniProtKB/Swiss-Prot
    DHB2_HUMAN, P37059: Membrane; Single-pass type II membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum4
    cytosol2
    lysosome2
    plasma membrane2
    extracellular1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS8099587
    GO:0016021integral component of membrane IEA--

    HSD17B2 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 HSD17B2 About    
    See pathways by source

    SuperPathContained pathways About
    1Estrone metabolism
    Estrone metabolism0.57
    Estrogen biosynthesis0.47
    Androstenedione and testosterone biosynthesis and metabolism p.10.57
    2Prostate Cancer
    Prostate Cancer0.32
    Steroid Biosynthesis0.00
    3Metabolism
    Metabolic pathways0.38
    4Steroid hormone biosynthesis
    Steroid hormone biosynthesis
    5Ovarian steroidogenesis
    Ovarian steroidogenesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 GeneGo (Thomson Reuters) Pathways for HSD17B2
        Estrogen biosynthesis
    Estrone metabolism
    Androstenedione and testosterone biosynthesis and metabolism p.1

    2 BioSystems Pathways for HSD17B2
        Prostate Cancer
    Steroid Biosynthesis



    3 Kegg Pathways  (Kegg details for HSD17B2):
        Steroid hormone biosynthesis
    Metabolic pathways
    Ovarian steroidogenesis


    HSD17B2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including HSD17B2: 
              Drug Metabolism in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for HSD17B2

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

    Selected Interacting proteins for HSD17B2 (ENSP000001999364) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AKR1D1ENSP000002423754STRING: ENSP00000242375
    CYP11B1ENSP000002924274STRING: ENSP00000292427
    CYP19A1ENSP000002604334STRING: ENSP00000260433
    CYP1A1ENSP000003690504STRING: ENSP00000369050
    CYP1B1ENSP000002606304STRING: ENSP00000260630
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0001890placenta development IEA--
    GO:0006694steroid biosynthetic process IEA--
    GO:0008152metabolic process ----
    GO:0032526response to retinoic acid IDA17538076

    HSD17B2 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 HSD17B2 (DHB2)

    10 HMDB Compounds for HSD17B2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Androstenedione(4)-Androsten-3,17-dione (see all 14)63-05-817538076
    16a-Hydroxyestrone16a-Hydroxyestrone (see all 5)566-76-7--
    Estradiol(+)-3,17b-Estradiol (see all 83)50-28-2--
    Estriol13b-Methyl-1,3,5(10)-gonatriene-3,16a,17b-triol (see all 50)50-27-1--
    Estrone(+)-Estrone (see all 7)53-16-7--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    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--

    1 DrugBank Compound for HSD17B2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--3463506 17139284 17016423 8529651 2615366

    Selected Novoseek inferred chemical compound relationships for HSD17B2 gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    17beta-hydroxysteroid 89.8 8 8125484 (1), 16807381 (1), 17538076 (1), 20108182 (1) (see all 9)
    hydroxysteroid 77.8 3 17510238 (1), 18348690 (1)
    estrone 76.7 4 1551473 (1), 17538076 (1), 1958511 (1), 16896040 (1) (see all 5)
    dihydroprogesterone 73.5 3 17510238 (1), 17538076 (1), 14967895 (1)
    estradiol 60.6 8 1958511 (2), 18270252 (2), 1551473 (1), 16807381 (1) (see all 7)
    androstenedione 58.9 1 17538076 (1), 16896040 (1)
    testosterone 56.3 4 17538076 (1), 12361724 (1), 17085046 (1), 14967895 (1) (see all 5)
    17-hydroxyprogesterone 54.4 1 14967895 (1)
    progesterone 50.4 15 16807381 (4), 20108182 (3), 11165014 (2), 17510238 (1) (see all 8)
    steroid 45.5 2 1551473 (1), 17085046 (1)



    HSD17B2 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,
    Conferences by KenesGroup, 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 HSD17B2 gene: 
    NM_002153.2  

    Unigene Cluster for HSD17B2:

    Hydroxysteroid (17-beta) dehydrogenase 2
    Hs.162795  [show with all ESTs]
    Unigene Representative Sequence: BX648557
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000563491 ENST00000199936(uc002fgv.3) ENST00000566213 ENST00000569351
    ENST00000568090 ENST00000566838
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      QuantiFast Probe-based Assays in human, mouse, rat HSD17B2

    Additional mRNA sequence: 

    AK223001.1 AK313109.1 BC009581.1 BC059170.1 BX648557.1 L11708.1 

    10 DOTS entries:

    DT.211464  DT.100817166  DT.95171576  DT.100817157  DT.100817162  DT.95171579  DT.100029949  DT.120717073 
    DT.120717082  DT.97865470 

    Selected AceView cDNA sequences (see all 128):

    AL552292 CR595758 CR624530 CR615010 CB240853 CA395826 CR595269 CB853358 
    AL546227 CR591737 BC009581 BG618530 AL552206 BU734725 CR614043 BM772142 
    CR599647 BC059170 AI131466 BM771692 BU620652 CA311161 CR590260 NM_002153 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for HSD17B2    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9
    SP1:              -                             -     -         
    SP2:                                                            
    SP3:        -     -                                             
    SP4:              -     -                                       
    SP5:                                                            


    ECgene alternative splicing isoforms for HSD17B2

    (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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    HSD17B2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCAGAGCTC
    HSD17B2 Expression
    About this image


    HSD17B2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Liver Lobule
             Hepatocyte-like cells
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 2 entries
             Placenta-derived mesenchymal stem cells (family)
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Mesenchymal Stem Cells (Uncategorized)    fully expand to see all 2 entries
             Placenta-derived mesenchymal stem cells (family)
     
     Neural Crest (Gastrulation Derivatives)
             PureStem MEL2, NCr-fac Progenitor
    HSD17B2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HSD17B2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.162795
        Pathway & Disease-focused RT2 Profiler PCR Array including HSD17B2: 
              Drug Metabolism in human mouse rat

    Primer
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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 HSD17B2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hsd17b21 , 5 hydroxysteroid (17-beta) dehydrogenase 21, 5 71.72(n)1
    61.17(a)1
      8 (64.82 cM)5
    154861  NM_008290.21  NP_032316.21 
     1177019465 
    chicken
    (Gallus gallus)
    Aves HSD17B21 hydroxysteroid (17-beta) dehydrogenase 2 61.33(n)
    55.47(a)
      415807  XM_414168.4  XP_414168.4 
    lizard
    (Anolis carolinensis)
    Reptilia HSD17B26
    hydroxysteroid (17-beta) dehydrogenase 2
    49(a)
    1 ↔ 1
    GL344611.1(17569-19906)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia hsd17b21 hydroxysteroid (17-beta) dehydrogenase 2 55.19(n)
    46.88(a)
      100497002  XM_002934950.1  XP_002934996.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hsd17b21 hydroxysteroid (17-beta) dehydrogenase 2 54.69(n)
    45.93(a)
      449537  NM_001040188.1  NP_001035278.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta e6
    ebony
    7(a)
    many ↔ many
    3R(17055561-17062900)
    worm
    (Caenorhabditis elegans)
    Secernentea dhs-206
    Protein DHS-20 (dhs-20) mRNA, complete cds
    26(a)
    many ↔ many
    V(11602312-11604563) WBGene00000983
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AYR1(YIL124W)4 NADPH-dependent 1-acyl dihydroxyacetone phosphate reductase more   --   9(126204-127097) 854682  NP_012142.1 


    ENSEMBL Gene Tree for HSD17B2 (if available)
    TreeFam Gene Tree for HSD17B2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HSD17B2 gene
    SDR9C72  DHRS92  HSD11B22  HSD17B62  BDH12  RDH162  RDH82  DHRS7B2  
    DHRS72  HSD17B12  KDSR2  DHRS7C2  RDH52  
    8 SIMAP similar genes for HSD17B2 using alignment to 6 protein entries:     DHB2_HUMAN (see all proteins):
    RDHL    HSD11B2    BDH1    HSD17B6    SDR9C7    DHRS9
    RDH5    RDH16

    HSD17B2 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 HSD17B2 (see all 1885)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs780249081,2
    F--82066906(+) TTTTTC/TGAACG 1 -- us2k11Minor allele frequency- T:0.12NA 120
    rs1832326101,2
    --82066929(+) AGGATA/GCTCTG 1 -- us2k10--------
    rs80613311,2
    C,F,A,H--82066970(+) TGCCCT/CGTGGC 1 -- us2k17Minor allele frequency- C:0.29NS WA NA CSA 303
    rs80549311,2
    C,F,A,H--82066971(+) GCCCTG/ATGGCT 1 -- us2k18Minor allele frequency- A:0.09NS EA WA NA CSA 600
    rs1879289731,2
    --82066991(+) CCCAGC/GAAGGA 1 -- us2k10--------
    rs1909347081,2
    --82067012(+) GTTGAA/GGGAGG 1 -- us2k10--------
    rs81910441,2
    C,F,H--82067039(+) CCAAAG/CGCAAT 1 -- us2k1 tfbs314Minor allele frequency- C:0.04NS EA WA CSA 1194
    rs1826423991,2
    --82067074(+) CTGGCC/TTGGAG 1 -- us2k10--------
    rs81910451,2
    C,F,H--82067083(+) AGCTGG/CTAACG 1 -- us2k16Minor allele frequency- C:0.01NS EA WA 716
    rs81910461,2
    C,H--82067204(+) GTAATG/CGTTCA 1 -- us2k15Minor allele frequency- C:0.00NS EA 584

    HapMap Linkage Disequilibrium report for HSD17B2 (82068609 - 82132139 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for HSD17B2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2671131CNV Deletion23128226
    esv2029415CNV Deletion18987734
    nsv907012CNV Gain21882294

    Human Gene Mutation Database (HGMD): HSD17B2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HSD17B2
    DNA2.0 Custom Variant and Variant Library Synthesis for HSD17B2

    (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.)
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    OMIM gene information: 109685    OMIM disorders: --

    20 diseases for HSD17B2:    
    About MalaCards
    progesterone resistance    hereditary breast ovarian cancer    asperger syndrome    sporadic breast cancer
    polycystic ovary syndrome    leiomyoma    lung cancer susceptibility    endometriosis
    breast cancer    ovarian cancer    meningioma    prostate cancer
    prostatitis    esophagitis    tuberculosis    adenocarcinoma
    colorectal cancer    lung cancer    retinitis    endotheliitis

    2 diseases from the University of Copenhagen DISEASES database for HSD17B2:
    Endometriosis     Hereditary breast ovarian cancer

    HSD17B2 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for HSD17B2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer 38.8 11 8125484 (2), 8003440 (2), 1958511 (2), 17260097 (2) (see all 5)
    tumors 0 3 1551473 (1), 12361724 (1), 1958511 (1)
    cancer 0 2 8401501 (2)

    Genetic Association Database (GAD): HSD17B2
    Human Genome Epidemiology (HuGE) Navigator: HSD17B2 (26 documents)

    Export disorders for HSD17B2 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 HSD17B2 gene, integrated from 10 sources (see all 91):
    (articles sorted by number of sources associating them with HSD17B2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Regulation of 17-beta hydroxysteroid dehydrogenase type 2 in human placental endothelial cells. (PubMed id 17538076)1, 6, 9 Su E.J....Bulun S.E. (Biol. Reprod. 2007)
    2. Mapping of the HSD17B2 gene encoding type II 17 beta-hydroxysteroid dehydrogenase close to D16S422 on chromosome 16q24.1-q24.2. (PubMed id 7759109)1, 3, 9 Durocher F....Simard J. (Genomics 1995)
    3. A new polymorphism in the coding region of exon four in HSD17B2 in relation to risk of sporadic and hereditary breast cancer. (PubMed id 17260097)1, 4, 9 Jansson A....StAYl O. (Breast Cancer Res. Treat. 2007)
    4. Genetic variation in sex-steroid receptors and synthesizing enzymes and colorectal cancer risk in women. (PubMed id 20148360)1, 4, 9 Lin J....Cook N.R. (amp 2010)
    5. Polymorphisms associated with circulating sex hormone levels in postmenopausal women. (PubMed id 15199113)1, 4, 9 Dunning A.M....Ponder B.A. (J. Natl. Cancer Inst. 2004)
    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. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (Carcinogenesis 2010)
    8. Family-based analysis of candidate genes for polycystic ovary syndrome. (PubMed id 20200332)1, 4 Ewens K.G....Spielman R.S. (J. Clin. Endocrinol. Metab. 2010)
    9. Polymorphisms of estrogen-related genes jointly confer susceptibility to human spermatogenic defect. (PubMed id 18980759)1, 4 Su M.T....Kuo P.L. (Fertil. Steril. 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
    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)
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    Entrez Gene: 3294 HGNC: 5211 AceView: HSD17B2 Ensembl:ENSG00000086696 euGenes: HUgn3294
    ECgene: HSD17B2 Kegg: 3294 H-InvDB: HSD17B2

    (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)
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    NameDescription
    PharmGKB entry for HSD17B2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for HSD17B2 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/hsd17b2/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HSD17B2 gene:
    Search GeneIP for patents involving HSD17B2

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



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