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

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)
About This Section

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

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, and among its related super-pathways are Androstenedione and testosterone biosynthesis and metabolism p.1 and Metabolism. GO annotations related to this gene include testosterone dehydrogenase (NAD+) activity and nucleotide binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010498.15  NC_018927.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for HSD17B2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: DHB2_HUMAN, P37059 (See protein sequence)
Recommended Name: Estradiol 17-beta-dehydrogenase 2  
Size: 387 amino acids; 42785 Da
Subcellular location: Membrane; Single-pass type II membrane protein (Potential)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P37059

  • HSD17B2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HSD17B2 Protein Expression
    REFSEQ proteins: NP_002144.1  
    ENSEMBL proteins: 
     ENSP00000455992   ENSP00000199936   ENSP00000457943   ENSP00000454931   ENSP00000456529  
     ENSP00000456471  

    Human Recombinant Protein Products for HSD17B2: 
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    Novus Biologicals HSD17B2 Proteins
    Novus Biologicals HSD17B2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    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 TAS8099587
    GO:0016021integral to membrane IEA--

    HSD17B2 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: 
    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,
    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: 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): 5 molecular function terms (GO ID links to tree view):    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 IEA--
    GO:0050327testosterone 17-beta-dehydrogenase (NAD+) activity ----
         
    HSD17B2 for ontologies           About GeneDecksing


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

    HSD17B2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Hsd17b2tm1Mpo for HSD17B2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HSD17B2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HSD17B2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HSD17B2 

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    Inhib. RNA
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSD17B2


    (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 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
    Steroid Biosynthesis0.32
    2Metabolism
    Metabolic pathways0.40
    3Prostate Cancer
    Prostate Cancer0.32
    4Glucuronidation
    Steroid hormone biosynthesis0.30
    5Ovarian steroidogenesis
    Ovarian steroidogenesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for HSD17B2
        Androstenedione and testosterone biosynthesis and metabolism p.1
    Estrone metabolism
    Estrogen biosynthesis


    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HSD17B2

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

    5/33 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 (GO ID links to tree view):    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 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

    HSD17B2 for compounds           About GeneDecksing

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

    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

    10/12 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)

    Search CenterWatch for drugs/clinical trials and news about HSD17B2 / DHB2

    (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,
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    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 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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    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 

    24/128 AceView cDNA sequences (see all 128):

    BC059170 CF128605 CR595758 BG619123 BG618530 CR591324 NM_002153 CR599647 
    CR590260 BU620652 CR591737 AI131466 BM712256 CR623916 AL544508 CR615010 
    BM771692 BM772142 BI042465 BF725694 CB853358 CA311161 BU734725 AL552292 

    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™, 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

    HSD17B2 expression in normal human tissues (normalized intensities)      HSD17B2 embryonic expression: see
    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 
     5/21 selected tissues (see all 21) fully expand
     
     Endothelium (Cardiovascular System)    fully expand to see all 9 entries
             Umbilical cord blood-derived endothelial progenitor cells
             Human Ovarian Microvascular Endothelial Cells (HOMEC)   
     
     Eye (Sensory Organs)    fully expand to see all 6 entries
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
             Human Retinal Pigment Epithelial Cells (HRPEpiC)   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 3 entries
             Human Bladder Smooth Muscle Cells (HBdSMC)   
             visceral organ/bladder   
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
             Human Vertebral Mesenchymal Stem Cells (HVMSC)   
     
     Epithelium (Uncategorized)    fully expand to see all 3 entries
             Human Iris Pigment Epithelial Cells (HIPEpiC)   

    See HSD17B2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HSD17B2

    SOURCE GeneReport for Unigene cluster: Hs.162795
        SABiosciences Expression via Pathway-Focused PCR Array including HSD17B2: 
              Drug Metabolism in human mouse rat

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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 HSD17B2 gene from 5/15 species (see all 15)    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 71.9(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)
    55.73(a)
      415807  XM_414168.3  XP_414168.3 
    lizard
    (Anolis carolinensis)
    Reptilia HSD17B26
    Uncharacterized protein
    48(a)
    1 ↔ 1
    GL344611.1(17569-19906)
    zebrafish
    (Danio rerio)
    Actinopterygii hsd17b21 hydroxysteroid (17-beta) dehydrogenase 2 54.69(n)
    45.93(a)
      449537  NM_001040188.1  NP_001035278.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AYR1(YIL124W)4
    AYR11
    NADPH-dependent 1-acyl dihydroxyacetone phosphate reductase more4
    Ayr1p1
    41.05(n)1
    31.05(a)1
      9(126204-127097)4
    8546821, 4  NP_012142.31  NP_012142.14 


    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)
    About This Section
    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) 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

    10/1885 SNPs in HSD17B2 are shown (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
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 109685    OMIM disorders: --

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

    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)
    About This Section

    PubMed articles for HSD17B2 gene, integrated from 9 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. (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. (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....Stal O. (2007)
    4. Genetic variation in sex-steroid receptors and synthe sizing enzymes and colorectal cancer risk in women. (PubMed id 20148360)1, 4, 9 Lin J....Cook N.R. (2010)
    5. Polymorphisms associated with circulating sex hormone levels in postmenopausal women. (PubMed id 15199113)1, 4, 9 Dunning A.M....Ponder B.A. (2004)
    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. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (2010)
    8. Family-based analysis of candidate genes for polycyst ic ovary syndrome. (PubMed id 20200332)1, 4 Ewens K.G....Spielman R.S. (2010)
    9. 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)
    10. Genetic susceptibility to distinct bladder cancer sub phenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (2010)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3294 HGNC: 5211 AceView: HSD17B2 Ensembl:ENSG00000086696 euGenes: HUgn3294
    ECgene: HSD17B2 Kegg: 3294 H-InvDB: HSD17B2

    (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 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.)
    About This Section
    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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