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

HSD17B7 Gene

protein-coding   GIFtS: 62
GCID: GC01P162760

Hydroxysteroid (17-Beta) Dehydrogenase 7

  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 71 2     17beta Hydroxysteroid Dehydrogenase2
Estradiol 17-Beta-Dehydrogenase 72 3     3-Keto-Steroid Reductase2
17-Beta-HSD 72 3     PRAP2
17-Beta-Hydroxysteroid Dehydrogenase 72 3     SDR37C12
Member 11     Short Chain Dehydrogenase/Reductase Family 37C, Member 12
Short Chain Dehydrogenase/Reductase Family 37C1     EC 1.1.1.2703
17 Beta-Hydroxysteroid Dehydrogenase Type VII2     EC 1.1.1.623

External Ids:    HGNC: 52151   Entrez Gene: 514782   Ensembl: ENSG000001321967   OMIM: 6067565   UniProtKB: P569373   

Export aliases for HSD17B7 gene to outside databases

Previous GC identifers: GC01P160395 GC01P158411 GC01P159456 GC01P159947 GC01P159492 GC01P161027 GC01P134005


(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 HSD17B7 Gene:
HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the
biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynthesis of cholesterol
(Marijanovic et al., 2003 (PubMed 12829805)).(supplied by OMIM, May 2010)

GeneCards Summary for HSD17B7 Gene: 
HSD17B7 (hydroxysteroid (17-beta) dehydrogenase 7) is a protein-coding gene. Diseases associated with HSD17B7 include ovarian endometriosis, and endometrial adenocarcinoma, and among its related super-pathways are superpathway of cholesterol biosynthesis and Androstenedione and testosterone biosynthesis and metabolism p.1. GO annotations related to this gene include prolactin receptor binding and nucleotide binding.

UniProtKB/Swiss-Prot: DHB7_HUMAN, P56937
Function: Responsible for the reduction of the keto group on the C-3 of sterols

Gene Wiki entry for HSD17B7 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_000001.10  NC_018912.2  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HSD17B7 gene promoter:
         ER-alpha   AREB6   GATA-3   POU2F1   Sp1   POU2F1a   Nkx2-5   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHSD17B7 promoter sequence
   Search SABiosciences Chromatin IP Primers for HSD17B7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HSD17B7


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

Entrez Gene cytogenetic band: 1q23   Ensembl cytogenetic band:  1q23.3   HGNC cytogenetic band: 1q23

HSD17B7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSD17B7 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P162760:  view genomic region     (about GC identifiers)

Start:
162,760,492 bp from pter      End:
162,782,608 bp from pter
Size:
22,117 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: DHB7_HUMAN, P56937 (See protein sequence)
Recommended Name: 3-keto-steroid reductase  
Size: 341 amino acids; 38206 Da
Subcellular location: Cell membrane; Single-pass membrane protein
Secondary accessions: Q5T246 Q7Z4V9 Q8WWS2 Q9UF00
Alternative splicing: 3 isoforms:  P56937-1   P56937-2   P56937-3   

Explore the universe of human proteins at neXtProt for HSD17B7: NX_P56937

Explore proteomics data for HSD17B7 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P56937

  • HSD17B7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HSD17B7 Protein Expression
    REFSEQ proteins: NP_057455.1  
    ENSEMBL proteins: 
     ENSP00000356892   ENSP00000436334   ENSP00000254521   ENSP00000356889   ENSP00000412146  
     ENSP00000356894  
    Reactome Protein details: P56937
    Human Recombinant Protein Products for HSD17B7: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum ----
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005886plasma membrane IEA--
    GO:0016021integral to membrane IEA--

    HSD17B7 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

    3 InterPro protein domains:
     IPR002347 Glc/ribitol_DH
     IPR002198 DH_sc/Rdtase_SDR
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry P56937

    ProtoNet protein and cluster: P56937

    2 Blocks protein domains:
    IPB002198 Short-chain dehydrogenase/reductase SDR
    IPB002347 Glucose/ribitol dehydrogenase family signature


    UniProtKB/Swiss-Prot: DHB7_HUMAN, P56937
    Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family. ERG27 subfamily


    HSD17B7 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: DHB7_HUMAN, P56937
    Function: Responsible for the reduction of the keto group on the C-3 of sterols
    Catalytic activity: A 3-beta-hydroxysteroid + NADP(+) = a 3-oxosteroid + NADPH
    Catalytic activity: 17-beta-estradiol + NAD(P)(+) = estrone + NAD(P)H

         Genatlas biochemistry entry for HSD17B7:
    17 beta hydroxysteroid dehydrogenase type 7,expressed in the corpus luteum during pregnancy,responsible for
    extradive biosynthesis

         Enzyme Numbers (IUBMB): EC 1.1.1.621 EC 1.1.1.2701

         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:00002533-keto sterol reductase activity IEA--
    GO:0003824catalytic activity ----
    GO:0004303estradiol 17-beta-dehydrogenase activity IEA--
    GO:0005148prolactin receptor binding IEA--
    GO:0016491oxidoreductase activity ----
         
    HSD17B7 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HSD17B7:
     Increased gamma-H2AX phosphory 

         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Hsd17b7):
     cardiovascular system  craniofacial  embryogenesis  growth/size  homeostasis/metabolism 
     mortality/aging  muscle  nervous system  skeleton 

    HSD17B7 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Hsd17b7tm1Gibo for HSD17B7

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HSD17B7 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HSD17B7 
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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 HSD17B7 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1cholesterol biosynthesis III (via desmosterol)
    Cholesterol biosynthesis0.85
    cholesterol biosynthesis I0.59
    superpathway of cholesterol biosynthesis0.85
    Steroid biosynthesis0.48
    cholesterol biosynthesis III (via desmosterol)0.59
    zymosterol biosynthesis0.46
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)0.59
    2Estrone metabolism
    Estrone metabolism0.57
    Estrogen biosynthesis0.47
    Androstenedione and testosterone biosynthesis and metabolism p.10.57
    Steroid Biosynthesis0.32
    3Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    4Prostate Cancer
    Prostate Cancer0.32
    5Glucuronidation
    Steroid hormone biosynthesis0.30

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for HSD17B7
        Androstenedione and testosterone biosynthesis and metabolism p.1
    Estrone metabolism
    Estrogen biosynthesis


    3 GeneGo (Thomson Reuters) Pathways for HSD17B7
        Estrogen biosynthesis
    Estrone metabolism
    Androstenedione and testosterone biosynthesis and metabolism p.1

    5/8 BioSystems Pathways for HSD17B7 (see all 8)
        zymosterol biosynthesis
    Prostate Cancer
    cholesterol biosynthesis I
    superpathway of cholesterol biosynthesis
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)


    3        Reactome Pathways for HSD17B7
        Metabolism
    Cholesterol biosynthesis
    Metabolism of lipids and lipoproteins


    4         Kegg Pathways  (Kegg details for HSD17B7):
        Steroid biosynthesis
    Steroid hormone biosynthesis
    Metabolic pathways
    Ovarian steroidogenesis

    UniProtKB/Swiss-Prot: DHB7_HUMAN, P56937
    Pathway: Steroid biosynthesis; estrogen biosynthesis
    Pathway: Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 5/6


    HSD17B7 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HSD17B7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/13 Interacting proteins for HSD17B7 (ENSP000002545214) via UniProtKB, MINT, STRING, and/or I2D (see all 13)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    AGPAT6ENSP000003801844STRING: ENSP00000380184
    BRSK1ENSP000003106494STRING: ENSP00000310649
    CA1ENSP000002561194STRING: ENSP00000256119
    DTYMKENSP000003048024STRING: ENSP00000304802
    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:0006695cholesterol biosynthetic process TAS--
    GO:0006703estrogen biosynthetic process IEA--
    GO:0008152metabolic process ----
    GO:0044237cellular metabolic process ----
    GO:0044281small molecule metabolic process TAS--

    HSD17B7 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

    HSD17B7 for compounds           About GeneDecksing

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

    Browse Tocris compounds for HSD17B7 (DHB7)

    10/19 HMDB Compounds for HSD17B7 (see all 19)    About this table
    CompoundSynonyms CAS #PubMed Ids
    16a-Hydroxyestrone16a-Hydroxyestrone (see all 5)566-76-7--
    3-Keto-4-methylzymosterol4-methyl-5a-cholesta-8,24-dien-3-one (see all 6)----
    4-alpha-Methyl-5-alpha-cholest-7-en-3-beta-ol4-a-Methyl-5-a-cholest-7-en-3-b-ol (see all 5)481-25-4--
    4-alpha-Methyl-5-alpha-cholest-7-en-3-one4alpha-Methyl-5alpha-cholest-7-en-3-one 2789-43-7--
    4a-Methyl-5a-cholesta-8,24-dien-3-one4alpha-methyl-5alpha-cholesta-8,24-dien-3-one 7377-73-3--
    4a-Methylzymosterol4alpha-methyl-5alpha-cholesta-8,24-dien-3beta-ol (see all 7)7448-03-5--
    4a-Methylzymosterol-4-carboxylic acid4alpha-Carboxy-4beta-methyl-5alpha-cholesta-8,24-dien-3beta-ol (see all 2)----
    5a-Cholesta-8,24-dien-3-one5alpha-cholesta-8,24-dien-3-one ----
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Estradiol(+)-3,17b-Estradiol (see all 83)50-28-2--

    1 DrugBank Compound for HSD17B7    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423

    3 Novoseek inferred chemical compound relationships for HSD17B7 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    17beta-hydroxysteroid 86.7 5 16356630 (1), 15731358 (1), 17498944 (1), 10544267 (1)
    steroid 32 2 17498944 (1)
    cholesterol 22.2 3 16356630 (1), 17498944 (1)

    Search CenterWatch for drugs/clinical trials and news about HSD17B7 / DHB7

    (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 HSD17B7 gene: 
    NM_016371.2  

    Unigene Cluster for HSD17B7:

    Hydroxysteroid (17-beta) dehydrogenase 7
    Hs.492925  [show with all ESTs]
    Unigene Representative Sequence: AK022929
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000485405(uc001gci.3 uc009wuv.3) ENST00000463037 ENST00000367915
    ENST00000466176 ENST00000254521 ENST00000367913 ENST00000484251 ENST00000413934
    ENST00000494450 ENST00000470195 ENST00000488656 ENST00000367917
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    Additional mRNA sequence: 

    AF098786.2 AF145023.1 AJ249179.1 AK022929.1 AK290741.1 AY358962.1 BC007068.1 BC065246.1 
    BT007075.1 

    12 DOTS entries:

    DT.212132  DT.95356397  DT.40229952  DT.95373297  DT.100819443  DT.121355368  DT.40256072  DT.100819439 
    DT.121355374  DT.102827107  DT.121355367  DT.121355377 

    24/95 AceView cDNA sequences (see all 95):

    BU674056 BM825021 BQ440565 NM_016371 AF098786 AI783561 AJ249179 BT007075 
    CR625699 BX101987 AI245405 AW243862 BX339371 BM048004 BC065246 BF982204 
    BM710063 BM313647 AI472243 BF928970 AA506121 AU129437 CF597082 N77671 

    GeneLoc Exon Structure


    (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

    HSD17B7 expression in normal human tissues (normalized intensities)      HSD17B7 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATTTCTACT
    HSD17B7 Expression
    About this image


    HSD17B7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Limb (Muscoskeletal System)
             Limb Bud
     
     Eye (Sensory Organs)
             Retina
     
     Brain (Nervous System)
             brain/forebrain/telencephalon   
     
     Spleen (Hematopoietic System)
             Spleen
     
     Testis (Reproductive System)

    See HSD17B7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HSD17B7

    SOURCE GeneReport for Unigene cluster: Hs.492925

    UniProtKB/Swiss-Prot: DHB7_HUMAN, P56937
    Tissue specificity: Highly expressed in adrenal gland, liver, lung and thymus. Expressed in breast, ovaries,
    pituitary gland, pregnant uterus, prostate, kidney, lymph node, small intestine, spinal cord and trachea. Weakly
    expressed in all other tissues tested. Isoform 3 is expressed in eye ciliary epithelial cells and neuroendocrine
    cells

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSD17B7

    (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 HSD17B7 gene from 5/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hsd17b71 , 5 hydroxysteroid (17-beta) dehydrogenase 71, 5 80.42(n)1
    78.92(a)1
      1 (76.84 cM)5
    154901  NM_010476.31  NP_034606.31 
     1699495355 
    chicken
    (Gallus gallus)
    Aves HSD17B71 hydroxysteroid (17-beta) dehydrogenase 7 65.52(n)
    63.75(a)
      424367  XM_422210.2  XP_422210.2 
    lizard
    (Anolis carolinensis)
    Reptilia HSD17B76
    Uncharacterized protein
    54(a)
    1 ↔ 1
    GL343300.1(1050153-1072291)
    zebrafish
    (Danio rerio)
    Actinopterygii hsd17b71 hydroxysteroid (17-beta) dehydrogenase 7 64.2(n)
    61.11(a)
      768185  NM_001077328.1  NP_001070796.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERG27(YLR100W)4
    ERG271
    3-keto sterol reductase, catalyzes the last of three more4
    Erg27p1
    41.51(n)1
    23.62(a)1
      12(341810-342853)4
    8507901, 4  NP_013201.11, 4 


    ENSEMBL Gene Tree for HSD17B7 (if available)
    TreeFam Gene Tree for HSD17B7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HSD17B7 gene
    2 SIMAP similar genes for HSD17B7 using alignment to 5 protein entries:     DHB7_HUMAN (see all proteins):
    RDH11    RDH13

    HSD17B7 for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for HSD17B7
    PGOHUM00000257786 PGOHUM00000257787 PGOHUM00000245051 PGOHUM00000245301


    (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

    10/485 SNPs in HSD17B7 are shown (see all 485)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1131747971,2
    C--162763685(+) TTTTTC/TCCCTA 1 -- int10--------
    rs41466871,2
    C--162767247(+) TTTTTC/TCCCTT 1 -- int1 trp30--------
    rs3711176531,2
    C--162767247(-) AAGGG-/AAAAAA 1 -- int11Minor allele frequency- A:0.00NA 2
    rs1165439361,2
    F--169308626(+) TTGAGG/ATCCCT 1 -- us2k11Minor allele frequency- A:0.03NA 120
    rs17800111,2
    C,A,H--169308637(-) gggtaA/Gcccat 1 -- us2k1 tfbs36Minor allele frequency- G:0.32NA EA 248
    rs1911223561,2
    --169308717(+) ATGGCA/TTGGCC 1 -- us2k10--------
    rs1837111051,2
    --169308764(+) CTTTCC/TCTTTC 1 -- us2k10--------
    rs577170021,2
    C,F--169308790(+) GGAAGT/GGTGGC 1 -- us2k12Minor allele frequency- G:0.09WA NA 238
    rs1889879961,2
    --169308869(+) AAAGGC/TTGGGA 1 -- us2k10--------
    rs1139100561,2
    C--169308874(+) CTGGGG/ATGTAA 1 -- us2k11Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for HSD17B7 (162760492 - 162782608 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for HSD17B7:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1698857CNV Insertion17803354
    nsv516482CNV Gain+Loss19592680

    SABiosciences Cancer Mutation PCR Assays
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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: 606756    OMIM disorders: --

    9 diseases for HSD17B7:    About MalaCards
    ovarian endometriosis    endometrial adenocarcinoma    endometriosis    essential hypertension
    hypertension    ovarian cancer    adenocarcinoma    breast cancer
    prostatitis


    HSD17B7 for disorders           About GeneDecksing

    Genetic Association Database (GAD): HSD17B7
    Human Genome Epidemiology (HuGE) Navigator: HSD17B7 (6 documents)

    Export disorders for HSD17B7 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 HSD17B7 gene, integrated from 9 sources (see all 38):
    (articles sorted by number of sources associating them with HSD17B7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Determination of cDNA, gene structure and chromosomal localization of the novel human 17beta-hydroxysteroid dehydrogenase type 7. (PubMed id 10544267)1, 2, 3, 9 Krazeisen A.... Adamski J. (1999)
    2. Maternal and fetal genetic associations of PTGER3 and PON1 with preterm birth. (PubMed id 20140262)1, 4 Ryckman K.K....Jacobsson B. (2010)
    3. Genetic variation in the estrogen metabolic pathway a nd mammographic density as an intermediate phenotype of breast cancer. (PubMed id 20214802)1, 4 Li J....Hall P. (2010)
    4. Analysis of 17beta-hydroxysteroid dehydrogenase types 5, 7, and 12 genetic sequence variants in breast cancer cases from French Cana dian Families with high risk of breast and ovarian cancer. (PubMed id 19460435)1, 4 Plourde M....The V.L. (2009)
    5. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (2009)
    6. Follow-up of a major linkage peak on chromosome 1 rev eals suggestive QTLs associated with essential hypertension: GenNet study. (PubMed id 19536175)1, 4 Ehret G.B....Chakravarti A. (2009)
    7. Spontaneous preterm birth in African Americans is associated with infection and inflammatory response gene variants. (PubMed id 19019335)1, 4 Velez D.R....Menon R. (2008)
    8. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (2008)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51478 HGNC: 5215 AceView: HSD17B7 Ensembl:ENSG00000132196 euGenes: HUgn51478
    ECgene: HSD17B7 Kegg: 51478 H-InvDB: HSD17B7

    (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 HSD17B7 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for HSD17B7 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HSD17B7 gene:
    Search GeneIP for patents involving HSD17B7

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



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