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

HSD17B6 Gene

protein-coding   GIFtS: 59
GCID: GC12P057157

Hydroxysteroid (17-Beta) Dehydrogenase 6

(Previous names: hydroxysteroid (17-beta) dehydrogenase 6, hydroxysteroid...)
  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 61 2     Member 61
3(Alpha->Beta)-Hydroxysteroid Epimerasel1 2     NAD+ -Dependent 3 Alpha-Hydroxysteroid Dehydrogenase1
3-Hydroxysteroid Epimerase1 2     Short Chain Dehydrogenase/Reductase Family 9C1
Oxidative 3-Alpha-Hydroxysteroid-Dehydrogenase1 2     17-Beta-Hydroxysteroid Dehydrogenase Type 62
oxidoreductase1 2     3(Alpha->Beta)-Hydroxysteroid Epimerase2
Retinol Dehydrogenase1 2     SDR9C62
Oxidative 3-Alpha Hydroxysteroid Dehydrogenase2 3     Hydroxysteroid (17-Beta) Dehydrogenase 6 Homolog2
17-Beta-HSD 62 3     NAD+ -Dependent 3 Alpha-Hydroxysteroid Dehydrogenase 3-Hydroxysteroid
Epimerase2
3-alpha->beta-HSE2 3     Short Chain Dehydrogenase/Reductase Family 9C, Member 62
3-Alpha->Beta-Hydroxysteroid Epimerase2 3     17-beta-HSD63
RODH2 3     EC 1.1.1.2393
EC 1.1.1.1053 8     EC 1.1.1.623
HSE2 5     EC 1.1.18
Hydroxysteroid (17-Beta) Dehydrogenase 6 Homolog (Mouse)1     

External Ids:    HGNC: 233161   Entrez Gene: 86302   Ensembl: ENSG000000254237   OMIM: 6066235   UniProtKB: O147563   

Export aliases for HSD17B6 gene to outside databases

Previous GC identifers: GC12P055444 GC12P054196


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

Entrez Gene summary for HSD17B6 Gene:
The protein encoded by this gene has both oxidoreductase and epimerase activities and is involved in androgen
catabolism. The oxidoreductase activity can convert 3 alpha-adiol to dihydrotestosterone, while the epimerase
activity can convert androsterone to epi-androsterone. Both reactions use NAD+ as the preferred cofactor. This
gene is a member of the retinol dehydrogenase family. (provided by RefSeq, Aug 2013)

GeneCards Summary for HSD17B6 Gene: 
HSD17B6 (hydroxysteroid (17-beta) dehydrogenase 6) is a protein-coding gene. Diseases associated with HSD17B6 include ovary sarcoma, and apparent mineralocorticoid excess syndrome, and among its related super-pathways are Metabolism and Drug metabolism - cytochrome P450. GO annotations related to this gene include oxidoreductase activity and nucleotide binding. An important paralog of this gene is SDR9C7.

UniProtKB/Swiss-Prot: H17B6_HUMAN, O14756
Function: NAD-dependent oxidoreductase with broad substrate specificity that shows both oxidative and reductive
activity (in vitro). Has 17-beta-hydroxysteroid dehydrogenase activity towards various steroids (in vitro).
Converts 5-alpha-androstan-3-alpha,17-beta-diol to androsterone and estradiol to estrone (in vitro). Has
3-alpha-hydroxysteroid dehydrogenase activity towards androsterone (in vitro). Has retinol dehydrogenase activity
towards all-trans-retinol (in vitro). Can convert androsterone to epi-androsterone. Androsterone is first
oxidized to 5-alpha-androstane-3,17-dione and then reduced to epi-andosterone. Can act on both C-19 and C-21
3-alpha-hydroxysteroids

Gene Wiki entry for HSD17B6 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_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HSD17B6 gene promoter:
         Sp1   AP-1   Brachyury   ATF-2   IRF-1   PPAR-gamma1   STAT3   PPAR-gamma2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHSD17B6 promoter sequence
   Search SABiosciences Chromatin IP Primers for HSD17B6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HSD17B6


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

Entrez Gene cytogenetic band: 12q13   Ensembl cytogenetic band:  12q13.3   HGNC cytogenetic band: 12q13.3

HSD17B6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSD17B6 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P057157:  view genomic region     (about GC identifiers)

Start:
57,145,945 bp from pter      End:
57,181,574 bp from pter
Size:
35,630 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: H17B6_HUMAN, O14756 (See protein sequence)
Recommended Name: 17-beta-hydroxysteroid dehydrogenase type 6 precursor  
Size: 317 amino acids; 35966 Da
Subcellular location: Microsome membrane; Peripheral membrane protein; Lumenal side. Early endosome membrane;
Peripheral membrane protein; Lumenal side (Potential)
Sequence caution: Sequence=AAB88252.1; Type=Frameshift; Positions=158, 174;
Secondary accessions: O43275

Explore the universe of human proteins at neXtProt for HSD17B6: NX_O14756

Explore proteomics data for HSD17B6 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O14756

  • 4/6 DME Specific Peptides for HSD17B6 (O14756) (see all 6)
     GVEAFSD  GLVNNAG  TGCDSGFG  VTDCMEHALT 

    HSD17B6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HSD17B6 Protein Expression
    REFSEQ proteins: NP_003716.2  
    ENSEMBL proteins: 
     ENSP00000450698   ENSP00000451753   ENSP00000451406   ENSP00000452103   ENSP00000452273  
     ENSP00000451497   ENSP00000318631  

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    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular NAS11513953
    GO:0005783endoplasmic reticulum IEA--
    GO:0031901early endosome membrane IEA--

    HSD17B6 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 O14756

    ProtoNet protein and cluster: O14756

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

    UniProtKB/Swiss-Prot: H17B6_HUMAN, O14756
    Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family


    HSD17B6 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: H17B6_HUMAN, O14756
    Function: NAD-dependent oxidoreductase with broad substrate specificity that shows both oxidative and reductive
    activity (in vitro). Has 17-beta-hydroxysteroid dehydrogenase activity towards various steroids (in vitro).
    Converts 5-alpha-androstan-3-alpha,17-beta-diol to androsterone and estradiol to estrone (in vitro). Has
    3-alpha-hydroxysteroid dehydrogenase activity towards androsterone (in vitro). Has retinol dehydrogenase activity
    towards all-trans-retinol (in vitro). Can convert androsterone to epi-androsterone. Androsterone is first
    oxidized to 5-alpha-androstane-3,17-dione and then reduced to epi-andosterone. Can act on both C-19 and C-21
    3-alpha-hydroxysteroids
    Catalytic activity: 17-beta-estradiol + NAD(P)(+) = estrone + NAD(P)H
    Catalytic activity: Testosterone + NAD(+) = androstenedione + NADH
    Catalytic activity: All-trans-retinol-[cellular-retinol-binding-protein] + NAD(+) =
    all-trans-retinal-[cellular-retinol-binding-protein] + NADH
    Biophysicochemical properties: Kinetic parameters: KM=0.19 uM for NAD; KM=0.18 uM for NADH; KM=54 uM for NADPH;
    KM=940 uM for NADP; KM=3.2 uM for all-trans-retinol; KM=0.24 uM for allopregnanolone; KM=0.13 uM for
    3-alpha-androstanediol; KM=0.23 uM for androsterone; KM=0.13 uM for dehydroepiandrosterone; Vmax=1.2 nmol/min/mg
    enzyme with all-trans-retinol; Vmax=14.7 nmol/min/mg enzyme with allopregnanolone; Vmax=16.5 nmol/min/mg enzyme
    with 3-alpha-androstanediol; Vmax=35 nmol/min/mg enzyme with androsterone; Vmax=0.90 nmol/min/mg enzyme with
    dehydroepiandrosterone; Note=The kinetic parameters were determined using microsomes from transfected cells;

         Enzyme Numbers (IUBMB): EC 1.1.1.1051 2 EC 1.1.1.621 EC 1.1.12 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:0003824catalytic activity TAS9188497
    GO:0004303estradiol 17-beta-dehydrogenase activity IEA--
    GO:0004745retinol dehydrogenase activity IEA--
    GO:0009055electron carrier activity TAS9188497
    GO:0016491oxidoreductase activity NAS9188497
         
    HSD17B6 for ontologies           About GeneDecksing


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    Inhib. RNA
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    (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 HSD17B6 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolic pathways0.40
    2Drug metabolism - cytochrome P450
    Retinol metabolism0.39
    3Glucuronidation
    Steroid hormone biosynthesis0.30

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    3         Kegg Pathways  (Kegg details for HSD17B6):
        Steroid hormone biosynthesis
    Retinol metabolism
    Metabolic pathways


    HSD17B6 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HSD17B6

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

    5/33 Interacting proteins for HSD17B6 (ENSP000003186314) 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): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006702androgen biosynthetic process NAS9188497
    GO:0006710androgen catabolic process TAS9188497
    GO:0008152metabolic process ----

    HSD17B6 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

    HSD17B6 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for HSD17B6 (H17B6)

    6 HMDB Compounds for HSD17B6    About this table
    CompoundSynonyms CAS #PubMed Ids
    Estradiol(+)-3,17b-Estradiol (see all 83)50-28-2--
    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--
    Succinic acid1,2-Ethanedicarboxylate (see all 11)110-15-6--
    Testosterone(+)-testosterone (see all 86)58-22-0--

    1 DrugBank Compound for HSD17B6    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Succinic acid1,2-Ethanedicarboxylic acid (see all 8)110-15-6target--15646028 16371358 15713802 16405730 15639001

    3 Novoseek inferred chemical compound relationships for HSD17B6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5alpha-androstane-3alpha,17beta-diol 81.8 1 17223255 (1)
    dihydrotestosterone 64.7 2 17223255 (1), 9188497 (1)
    vitamin a 52.7 1 9677409 (1)

    Search CenterWatch for drugs/clinical trials and news about HSD17B6 / H17B6

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 HSD17B6 gene: 
    NM_003725.3  

    Unigene Cluster for HSD17B6:

    Hydroxysteroid (17-beta) dehydrogenase 6
    Hs.524513  [show with all ESTs]
    Unigene Representative Sequence: NM_003725
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000555159 ENST00000555805 ENST00000554643 ENST00000556650 ENST00000554150
    ENST00000556481 ENST00000554155 ENST00000322165(uc001smg.1) ENST00000556875
    ENST00000553476
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    Additional mRNA sequence: 

    AF016509.1 AF223225.1 AK313423.1 BC020710.1 U89281.1 

    13 DOTS entries:

    DT.112239  DT.91751197  DT.95163537  DT.121209210  DT.121209224  DT.121209205  DT.95163540  DT.121209274 
    DT.121209293  DT.91751202  DT.121209263  DT.121209277  DT.40307845 

    11 AceView cDNA sequences:

    AA317665 CB162089 AV683846 AV660232 AU133812 AV658227 CD248621 AV659731 
    AV691524 AV683719 AV653177 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for HSD17B6 (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for HSD17B6

    (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

    HSD17B6 expression in normal human tissues (normalized intensities)      HSD17B6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTATATTTC
    HSD17B6 Expression
    About this image


    HSD17B6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Liver (Hepatobiliary System)
             Periportal Hepatocytes Liver Lobule
     
     Smooth Muscle (Extraembryonic Tissues)
             Human umbilical Smooth Muscle (HUSM)   
     
     Ovary (Reproductive System)
             Human Ovarian Fibroblasts (HOF)   
     
     Umbilical Cord (Extraembryonic Tissues)
             Human umbilical Smooth Muscle (HUSM)   
     
     Uterus (Reproductive System)
             uterine fibroid tissue   

    See HSD17B6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HSD17B6

    SOURCE GeneReport for Unigene cluster: Hs.524513

    UniProtKB/Swiss-Prot: H17B6_HUMAN, O14756
    Tissue specificity: Detected in liver and prostate (at protein level). Detected in adult liver, lung, brain,
    placenta, prostate, adrenal gland, testis, mammary gland, spleen, spinal cord and uterus. Detected in caudate
    nucleus, and at lower levels in amygdala, corpus callosum, hippocampus, substantia nigra and thalamus. Detected
    in fetal lung, liver and brain

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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.

    Orthologs for HSD17B6 gene from 6/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hsd17b61 , 5 hydroxysteroid (17-beta) dehydrogenase 61, 5 77.95(n)1
    73.42(a)1
      10 (76.39 cM)5
    274001  NM_013786.21  NP_038814.11 
     1279909415 
    chicken
    (Gallus gallus)
    Aves --
    --
    55(a)
    possible ortholog
    LGE22C19W28_E50C23(937825-939717)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 9)
    --
    63(a)
    63(a)
    (see all 9)
    many ↔ many
    many ↔ many
    (see all 9)
    2(94974620-95001618)
    2(95083371-95095109)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC060497.12   -- 76.75(n)    BC060497.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC046089.12   -- 71.69(n)   378440  BC046089.1 
    worm
    (Caenorhabditis elegans)
    Secernentea dhs-201 Protein DHS-20 49.23(n)
    41.39(a)
      179590  NM_073540.4  NP_505941.3 


    ENSEMBL Gene Tree for HSD17B6 (if available)
    TreeFam Gene Tree for HSD17B6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HSD17B6 gene
    SDR9C72  DHRS92  HSD11B22  HSD17B22  BDH12  RDH162  RDH82  DHRS7B2  
    DHRS72  HSD17B12  KDSR2  DHRS7C2  RDH52  
    7 SIMAP similar genes for HSD17B6 using alignment to 3 protein entries:     H17B6_HUMAN (see all proteins):
    RDH16    SDR9C7    RDHL    BDH1    DHRS9    RDH5
    HSD17B2

    HSD17B6 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for HSD17B6
    PGOHUM00000239479


    (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

    10/478 SNPs in HSD17B6 are shown (see all 478)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1900414881,2
    --57155152(+) AAAACC/TCGTCT 1 -- us2k10--------
    rs1395818101,2
    --57155154(+) AACTCA/GTCTCT 1 -- us2k10--------
    rs1449925841,2
    --57155186(+) TGGGTA/GTGGTG 1 -- us2k10--------
    rs107477701,2
    C,F,A,H--57155219(+) ACTCAA/GGAGGC 1 -- us2k16Minor allele frequency- G:0.29NA CSA 14
    rs47592561,2
    C,F,H--57155256(+) ggaggC/Aagagg 1 -- us2k1 trp313Minor allele frequency- A:0.01NS EA NA WA CSA 309
    rs355828611,2
    C--57155325(+) CTCTC-/AAAAAA 1 -- us2k11Minor allele frequency- A:0.00NA 2
    rs1458088771,2
    --57155679(+) AGACAG/TTAAAA 1 -- us2k10--------
    rs771051551,2
    F--57155703(+) AATAGA/GTGAAC 1 -- us2k12Minor allele frequency- G:0.08CSA WA 120
    rs1489906031,2
    --57155868(+) GTGACA/TGCTAA 1 -- us2k10--------
    rs2014217231,2
    C--57156031(+) TACTT-/AAAAAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HSD17B6 (57145945 - 57181574 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for HSD17B6:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2667772CNV Deletion23128226
    nsv826382CNV Gain20364138

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606623    OMIM disorders: --

    14 diseases for HSD17B6:    About MalaCards
    ovary sarcoma    apparent mineralocorticoid excess syndrome    hereditary breast ovarian cancer    smith-lemli-opitz syndrome
    pseudohermaphroditism    cushing's syndrome    polycystic ovary syndrome    ovarian cancer
    tuberculosis    retinitis    adenoma    sarcoma
    prostate cancer    prostatitis

    1 disease from the University of Copenhagen DISEASES database for HSD17B6:
    Apparent mineralocorticoid excess syndrome

    HSD17B6 for disorders           About GeneDecksing

    Genetic Association Database (GAD): HSD17B6
    Human Genome Epidemiology (HuGE) Navigator: HSD17B6 (4 documents)

    Export disorders for HSD17B6 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 HSD17B6 gene, integrated from 9 sources (see all 30):
    (articles sorted by number of sources associating them with HSD17B6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Expression cloning and characterization of oxidative 17beta- and 3alpha-hydroxysteroid dehydrogenases from rat and human prostate. (PubMed id 9188497)1, 2, 9 Biswas M.G. and Russell D.W. (1997)
    2. Genome-wide meta-analyses identifies seven loci assoc iated with platelet aggregation in response to agonists. (PubMed id 20526338)1, 4 Johnson A.D....Becker L.C. (2010)
    3. Family-based analysis of candidate genes for polycyst ic ovary syndrome. (PubMed id 20200332)1, 4 Ewens K.G....Spielman R.S. (2010)
    4. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (2009)
    5. Independent confirmation of association between metab olic phenotypes of polycystic ovary syndrome and variation in the type 6 17beta -hydroxysteroid dehydrogenase gene. (PubMed id 19837928)1, 4 Jones M.R....Goodarzi M.O. (2009)
    6. Polymorphism in HSD17B6 is associated with key features of polycystic ovary syndrome. (PubMed id 17070195)1, 4 Jones M.R....Stuckey B.G. (2006)
    7. Gene structure, chromosomal localization and analysis of 3- ketosteroid reductase activity of the human 3(alpha-->beta)- hydroxysteroid epimerase. (PubMed id 11513953)1, 2 Huang X.-F. and Luu-The V. (2001)
    8. Further characterization of human microsomal 3alpha-hydroxysteroid dehydrogenase. (PubMed id 11360992)1, 2 Chetyrkin S.V.... Kedishvili N.Y. (2001)
    9. Evolution of 17beta-hydroxysteroid dehydrogenases and their role in androgen, estrogen and retinoid action. (PubMed id 11165032)1, 3 Baker M.E. (2001)
    10. Molecular characterization of a first human 3(alpha-->beta)- hydroxysteroid epimerase. (PubMed id 10896656)1, 2 Huang X.-F. and Luu-The V. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 8630 HGNC: 23316 AceView: RODH Ensembl:ENSG00000025423 euGenes: HUgn8630
    ECgene: HSD17B6 Kegg: 8630 H-InvDB: HSD17B6

    (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 HSD17B6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HSD17B6 gene:
    Search GeneIP for patents involving HSD17B6

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



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