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

HSD17B2 Gene

protein-coding   GIFtS: 64
GCID: GC16P082068

hydroxysteroid (17-beta) dehydrogenase 2

 Explore 18 diseases affiliated with
HSD17B2 via our new
 Human Malady Compendium 
Biological research products
for HSD17B2
    

(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 21 2     20 Alpha-Hydroxysteroid Dehydrogenase2 3
EDH17B22 3 5     20-Alpha-HSD1
HSD171 2     E2DH2 3
SDR9C21 2     Estradiol 17-Beta-Dehydrogenase 22
Microsomal 17-Beta-Hydroxysteroid Dehydrogenase2 3     Short Chain Dehydrogenase/Reductase Family 9C, Member 22
Testosterone 17-Beta-Dehydrogenase2 3     EC 1.1.1.2393
17-Beta-HSD 22 3     EC 1.1.1.623
17-Beta-Hydroxysteroid Dehydrogenase Type 22 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

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


(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_000016.9  NC_018927.1  NT_010498.15  
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 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P37059

  • HSD17B2 Protein expression data from MOPED and PaxDb:    About this image 
    HSD17B2 Protein Expression
    REFSEQ proteins: NP_002144.1  
    ENSEMBL proteins: 
     ENSP00000455992   ENSP00000199936   ENSP00000457943   ENSP00000454931   ENSP00000456529  
     ENSP00000456471  

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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 TAS8099587
    GO:0005792microsome ----
    GO:0016021integral to membrane IEA--

    HSD17B2 for ontologies           About GeneDecksing



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

    HSD17B2 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 P37059

    ProtoNet protein and cluster: P37059

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

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    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--
         
    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:
         Mouse knock-out Hsd17b2tm1Mpo for HSD17B2
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for HSD17B2 

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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, 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  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
    2Steroid hormone biosynthesis
    Steroid hormone biosynthesis1.00
    3Metabolism
    Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    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

    1 BioSystems Pathway for HSD17B2 
        Steroid Biosynthesis


    2         Kegg Pathways  (Kegg details for HSD17B2):
        Steroid hormone biosynthesis
    Metabolic pathways


    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): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0001890placenta development IEA--
    GO:0006694steroid biosynthetic process IEA--
    GO:0006702androgen biosynthetic process ----
    GO:0006703estrogen biosynthetic process ----

    HSD17B2 for ontologies           About GeneDecksing



    (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

    HSD17B2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for HSD17B2

    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 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 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,
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    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
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000563491 ENST00000199936(uc002fgv.3) ENST00000566213 ENST00000569351
    ENST00000568090 ENST00000566838 ENST00000564265

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    Additional cDNA 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):

    CR599647 CR600847 CA311161 BU734725 CR614043 CR590260 CR595758 BG619123 
    BM821329 BI042465 AI393964 AL546227 CR624530 BM712256 CB240853 CR601534 
    AL552206 BG618530 BM771692 CR615010 BG572676 NM_002153 CR623916 BC009581 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCCAGAGCTC
    HSD17B2 Expression
    About this image

    HSD17B2 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)
    LiverLiver LobuleLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor Z1 (Embryonic Progenitor Cell)

    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 last universal common ancestor (LUCA).

    Orthologs for HSD17B2 gene from 8/26 species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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 --
    --
    (see all 4)
    --
    24(a)
    19(a)
    (see all 4)
    possible ortholog
    possible ortholog
    (see all 4)
    6(68513343-68523966)
    4(88258680-88266957)
    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 sro6
    CG88886
    --
    23(a)
    22(a)
    1 ↔ many
    possible ortholog
    3R(25620358-25621420)
    2R(7952070-7967048)
    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 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G652056
    AT5G100506
    1-acylglycerone phosphate reductase
    21(a)
    21(a)
    possible ortholog
    possible ortholog
    5(26050810-26052034)
    5(3144200-3145730)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    oxidoreductase, short chain dehydrogenase/reductas...
    oxidoreductase, short chain dehydrogenase/reductas...
    18(a)
    18(a)
    possible ortholog
    possible ortholog
    12(27135120-27136028)
    4(22652738-22655412)
    E. coli
    (Escherichia coli)
    Gamma proteobacteria ybbO6
    predicted oxidoreductase with NAD(P)-binding Rossm...
    23(a)
    possible ortholog
    Chromosome(517564-518373)


    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  RDH82  RDH162  DHRS7B2  
    DHRS72  HSD17B12  KDSR2  DHRS7C2  RDH52  
    8 SIMAP similar genes for HSD17B2 using alignment to 6 protein entries:     DHB2_HUMAN (see all proteins):
    HSD11B2    RDHL    BDH1    HSD17B6    SDR9C7    DHRS9
    RDH5    RDH16

    HSD17B2 for paralogs           About GeneDecksing



    (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

    10/1627 NCBI SNPs in HSD17B2 are shown (see all 1627    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
    H--82067204(+) GTAATG/CGTTCA 1 -- us2k15Minor allele frequency- C:0.00NS EA 584

    HapMap Linkage Disequilibrium report for HSD17B2 (82068609 - 82132139 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for HSD17B2
         1 Indel: 45471
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    HSD17B2 for disorders           About GeneDecksing

    OMIM gene information: 109685    OMIM disorders: --

    18 diseases for HSD17B2:    About MalaCards
    progesterone resistance    breast-ovarian cancer    polycystic ovary syndrome    hereditary breast ovarian cancer
    sporadic breast cancer    ovarian cancer    familial prostate cancer    breast cancer
    prostate cancer    pulmonary disease    endometriosis    meningioma
    colorectal cancer    prostatitis    esophagitis    tuberculosis
    adenocarcinoma    mycobacterium tuberculosis

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

    3 Novoseek 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 89):
    (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. Polymorphisms associated with circulating sex hormone levels in postmenopausal women. (PubMed id 15199113)1, 4, 9 Dunning A.M....Ponder B.A. (2004)
    4. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (2009)
    5. 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)
    6. The human type II 17 beta-hydroxysteroid dehydrogenase gene encodes two alternatively spliced mRNA species. (PubMed id 7546291)1, 2 Labrie Y....Labrie F. (1995)
    7. Expression cloning and characterization of human 17 beta- hydroxysteroid dehydrogenase type 2, a microsomal enzyme possessing 20 alpha-hydroxysteroid dehydrogenase activity. (PubMed id 8099587)1, 2 Wu L....Andersson S. (1993)
    8. SP1 and SP3 mediate progesterone-dependent induction of the 17beta hydroxysteroid dehydrogenase type 2 gene in human endometrium. (PubMed id 16807381)1, 9 Cheng Y.H....Bulun S.E. (2006)
    9. 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, 9 Jansson A....Stal O. (2007)
    10. Genetic variation in sex-steroid receptors and synthe sizing enzymes and colorectal cancer risk in women. (PubMed id 20148360)1, 9 Lin J....Cook N.R. (2010)

    (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)

    (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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