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UGT2B17 Gene

protein-coding   GIFtS: 62
GCID: GC04M069406

UDP Glucuronosyltransferase 2 Family, Polypeptide B17

(Previous names: UDP glycosyltransferase 2 family, polypeptide B17)
  See UGT2B17-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
UDP Glucuronosyltransferase 2 Family, Polypeptide B171 2     UDPGT2B172
C19-Steroid-Specific UDP-Glucuronosyltransferase2 3     UDP Glycosyltransferase 2 Family, Member B172
C19-Steroid-Specific UDPGT2 3     UDP-Glucuronosyltransferase 2B172
EC 2.4.1.173 8     UDP-Glucuronyltransferase, Family 2, Beta-172
BMND122 5     UDPGT 2B173
UDP Glycosyltransferase 2 Family, Polypeptide B171     EC 2.4.18

External Ids:    HGNC: 125471   Entrez Gene: 73672   Ensembl: ENSG000001978887   OMIM: 6019035   UniProtKB: O757953   

Export aliases for UGT2B17 gene to outside databases

Previous GC identifers: GC04U990053 GC04M069386 GC04M069231 GC04M069085


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for UGT2B17 Gene:
This gene encodes a member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme
catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diverse array of substrates
including steroid hormones and lipid-soluble drugs. This process, known as glucuronidation, is an intermediate
step in the metabolism of steroids. Copy number variation in this gene is associated with susceptibility to
osteoporosis.(provided by RefSeq, Apr 2010)

GeneCards Summary for UGT2B17 Gene:
UGT2B17 (UDP glucuronosyltransferase 2 family, polypeptide B17) is a protein-coding gene. Diseases associated with UGT2B17 include bone mineral density qtl 12, osteoporosis, and acute graft versus host disease. GO annotations related to this gene include retinoic acid binding and glucuronosyltransferase activity. An important paralog of this gene is UGT2A2.

UniProtKB/Swiss-Prot: UDB17_HUMAN, O75795
Function: UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic
xenobiotics and endogenous compounds. The major substrates of this isozyme are eugenol > 4-methylumbelliferone >
dihydrotestosterone (DHT) > androstane-3-alpha,17-beta-diol (3-alpha-diol) > testosterone > androsterone (ADT)

Gene Wiki entry for UGT2B17 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NC_018915.2  NT_016354.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the UGT2B17 gene promoter:
         PPAR-gamma1   HOXA3   PPAR-gamma2   CUTL1   IRF-1   En-1   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUGT2B17 promoter sequence
   Search Chromatin IP Primers for UGT2B17

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UGT2B17


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

Entrez Gene cytogenetic band: 4q13   Ensembl cytogenetic band:  4q13.2   HGNC cytogenetic band: 4q13

UGT2B17 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UGT2B17 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M069406:  view genomic region     (about GC identifiers)

Start:
69,402,902 bp from pter      End:
69,434,245 bp from pter
Size:
31,344 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: UDB17_HUMAN, O75795 (See protein sequence)
Recommended Name: UDP-glucuronosyltransferase 2B17 precursor  
Size: 530 amino acids; 61095 Da

Explore the universe of human proteins at neXtProt for UGT2B17: NX_O75795

Explore proteomics data for UGT2B17 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn65, Asn316, Asn483
  • Selected DME Specific Peptides for UGT2B17 (O75795) (see all 24)
     DLLNALK  AFITHGG  CGKVLVW  LLGHPKT 


    See UGT2B17 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001068.1  
    ENSEMBL proteins: 
     ENSP00000320401  
    Reactome Protein details: O75795

    UGT2B17 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    UGT: UDP glucuronosyltransferases

    1 InterPro protein domain:
     IPR002213 UDP_glucos_trans

    Graphical View of Domain Structure for InterPro Entry O75795

    ProtoNet protein and cluster: O75795

    1 Blocks protein domain: IPB002213 UDP-glucoronosyl/UDP-glucosyl transferase

    UniProtKB/Swiss-Prot: UDB17_HUMAN, O75795
    Similarity: Belongs to the UDP-glycosyltransferase family


    Find genes that share domains with UGT2B17           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UDB17_HUMAN, O75795
    Function: UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic
    xenobiotics and endogenous compounds. The major substrates of this isozyme are eugenol > 4-methylumbelliferone >
    dihydrotestosterone (DHT) > androstane-3-alpha,17-beta-diol (3-alpha-diol) > testosterone > androsterone (ADT)
    Catalytic activity: UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside

         Genatlas biochemistry entry for UGT2B17:
    UDP-glucoronosyltransferase (B17),expressed in several extrahepatic steroid tissues,including prostate,active or
    C19 steroids

         Enzyme Numbers (IUBMB): EC 2.4.1.171 2 EC 2.4.12

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001972NOT retinoic acid binding IDA--
    GO:0015020glucuronosyltransferase activity IEA--
    GO:0016758transferase activity, transferring hexosyl groups ----
    GO:0030246carbohydrate binding ----
         
    Find genes that share ontologies with UGT2B17           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for UGT2B17

    miRNA
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    miRTarBase miRNAs that target UGT2B17:
    hsa-mir-142-3p (MIRT021574), hsa-mir-335-5p (MIRT017924)

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UGT2B17


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    UDB17_HUMAN, O75795: Microsome membrane; Single-pass membrane protein (Potential). Endoplasmic reticulum
    membrane; Single-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus2
    peroxisome2
    cytosol1
    extracellular1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016020membrane TAS8798464
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with UGT2B17           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for UGT2B17 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Glucuronidation
    Glucuronidation0.61
    Starch and sucrose metabolism0.41
    Ascorbate and aldarate metabolism0.61
    Drug metabolism - other enzymes0.36
    Pentose and glucuronate interconversions0.61
    2Biological oxidations
    Biological oxidations0.56
    metapathway biotransformation0.42
    Phase II conjugation0.56
    Glucuronidation0.00
    3Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    4Chemical carcinogenesis
    Chemical carcinogenesis0.71
    Drug metabolism - cytochrome P4500.69
    Metabolism of xenobiotics by cytochrome P4500.71
    Retinol metabolism0.35
    5Metabolism of porphyrins
    Porphyrin and chlorophyll metabolism0.56


    Find genes that share SuperPaths with UGT2B17           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for UGT2B17
        Glucuronidation
    metapathway biotransformation

    1 Reactome Pathway for UGT2B17
        Glucuronidation


    Selected Kegg Pathways  (Kegg details for UGT2B17) (see all 11):
        Pentose and glucuronate interconversions
    Ascorbate and aldarate metabolism
    Steroid hormone biosynthesis
    Starch and sucrose metabolism
    Retinol metabolism

        Pathway & Disease-focused RT2 Profiler PCR Array including UGT2B17: 
              Drug Metabolism: Phase II Enzymes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for UGT2B17

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

    Selected Interacting proteins for UGT2B17 (ENSP000003204014) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADH4ENSP000002655124STRING: ENSP00000265512
    AKR1C4ENSP000002631264STRING: ENSP00000263126
    AKR1D1ENSP000002423754STRING: ENSP00000242375
    ALDH1A1ENSP000002977854STRING: ENSP00000297785
    COMTENSP000003545114STRING: ENSP00000354511
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process ----
    GO:0008152metabolic process ----
    GO:0008202steroid metabolic process TAS8798464
    GO:0030259lipid glycosylation ----

    Find genes that share ontologies with UGT2B17           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for UGT2B17 (UDB17)

    Selected HMDB Compounds for UGT2B17 (see all 86)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Androsterone(3R,5S,8R,9S,10S,13S,14S)-3-hydroxy-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,14,15,16-tetradecahydrocyclopenta[a]phenanthren-17-one (see all 28)53-41-89364925
    Ethyl glucuronide 17685-04-016139098
    (23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronide)(23S)-23,25-dihydroxy-24-oxovitamin D3 23-(beta-glucuronide) (see all 5)----
    1-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate)-beta-D-Glucopyranuronic acidIbuprofen acyl glucuronide;(2S,3S,4S,5R,6S)-3,4,5-trihydroxy-6-[2-[4-(2-methylpropyl)phenyl]propanoyloxy]oxane-2-carboxylic acid (see all 5)115075-59-7--
    1-Salicylate glucuronide1-salicylic acid glucuronide ----
    11-Hydroxyprogesterone 11-glucuronide11-hydroxyprogesterone 11-glucuronoside (see all 5)77710-64-6--
    11-Oxo-androsterone glucuronide11-oxo-etiocholanolone glucuronide (see all 3)----
    11-beta-hydroxyandrosterone-3-glucuronide11-beta-hydroxyetiocholanolone-3-glucuronide ----
    15-hydroxynorandrostene-3,17-dione glucuronide15-HNADG (see all 5)131749-23-0--
    16-alpha,17-beta-estriol 17-beta-D-glucuronideestra-1,3,5(10)-triene-3,16alpha,17beta-triol 17-D-glucuronide (see all 7)7219-89-8--

    1 DrugBank Compound for UGT2B17    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    LosartanDuP 89 (see all 2)114798-26-4enzymesubstrate19515014

    Selected Novoseek inferred chemical compound relationships for UGT2B17 gene (see all 11)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    4-(methylnitrosamino)-1-(3-pyridyl)-1-butanol 77.4 1 17416778 (1)
    dihydrotestosterone 72.9 24 9364925 (3), 9154505 (2), 17698910 (2), 9202245 (2) (see all 11)
    uridine diphosphate 68.8 2 8131219 (1), 19572376 (1)
    uridine 66.7 4 20429943 (1), 8798464 (1), 9202245 (1), 17826523 (1)
    testosterone 64.3 39 9154505 (6), 17698910 (4), 16332934 (3), 19088161 (3) (see all 11)
    steroid 56.5 16 9564848 (2), 20429943 (2), 11159850 (2), 19487245 (1) (see all 8)
    4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone 54.9 2 17416778 (1)
    glucuronic acid 47.6 1 19224506 (1)
    cycloheximide 14.6 1 11159850 (1)
    tamoxifen 12.9 2 15135306 (1), 16480962 (1)



    Find genes that share compounds with UGT2B17           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for UGT2B17 gene: 
    NM_001077.3  

    Unigene Cluster for UGT2B17:

    UDP glucuronosyltransferase 2 family, polypeptide B17
    Hs.575083  [show with all ESTs]
    Unigene Representative Sequence: U59209
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000317746(uc021xov.1)
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      QuantiFast Probe-based Assays in human, mouse, rat UGT2B17

    Additional mRNA sequence: U59209.1 

    3 DOTS entries:

    DT.40257588  DT.92423054  DT.102821119 

    16 AceView cDNA sequences:

    U59209 BG204559 NM_001077 BG207750 AI802786 BG196369 BX104868 BG205096 
    BG204560 BG206197 BG197852 BG189722 BF767899 BG198908 BG212981 BG181243 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    UGT2B17 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGGGTTTTA
    UGT2B17 Expression
    About this image


    UGT2B17 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Paraxial Mesoderm (Gastrulation Derivatives)
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Neural Crest (Gastrulation Derivatives)
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Blood (Hematopoietic System)
             Mature B-Cells Peripheral Blood
    UGT2B17 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UGT2B17 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.575083

    UniProtKB/Swiss-Prot: UDB17_HUMAN, O75795
    Tissue specificity: Expressed in various tissues including the liver, kidney, testis, uterus, placenta, mammary
    gland, adrenal gland, skin and prostate

        Pathway & Disease-focused RT2 Profiler PCR Array including UGT2B17: 
              Drug Metabolism: Phase II Enzymes in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UGT2B17

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for UGT2B17 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ugt2b11 , 5 UDP glucuronosyltransferase 2 family, polypeptide B11, 5 77.33(n)1
    71.32(a)1
      5 (43.56 cM)5
    717731  NM_152811.11  NP_690024.11 
     869166385 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0070281 AgaP_AGAP007028 40.67(n)
    29.11(a)
      1270077  XM_308744.4  XP_308744.4 


    ENSEMBL Gene Tree for UGT2B17 (if available)
    TreeFam Gene Tree for UGT2B17 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UGT2B17 gene
    UGT2A22  UGT1A82  UGT3A12  UGT1A72  UGT2B112  UGT2B72  UGT1A32  UGT1A12  
    UGT3A22  UGT1A52  UGT2B102  UGT2A12  UGT1A102  UGT1A62  UGT82  UGT2B152  
    UGT2B42  UGT2A32  UGT2B282  UGT1A92  UGT1A42  
    Selected SIMAP similar genes for UGT2B17 using alignment to 1 protein entry:     UDB17_HUMAN(see all similar genes):
    UGT2B15    UGT2B11    UGT2B4    UGT2B7    UGT2B28    UGT2A3
    UGT1A3S    UGT1A9S    UGT2B10    UGT2A2    UGT2A1    UGT1A8S
    UGT1A5    BILIQTL1    UGT1A8    UGT1A1    UGT1A6    UGT1A7

    Find genes that share paralogs with UGT2B17           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for UGT2B17
    PGOHUM00000259904 PGOHUM00000245945


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    UDB17_HUMAN, O75795: Copy-number variation of UGT2B17 defines the bone mineral density quantitative trait locus 12
    (BMND12) [MIM:612560]. Variance in bone mineral density is a susceptibility factor for osteoporotic fractures


    Selected SNPs for UGT2B17 (see all 714)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1137833761,2
    F--69299167(+) TTCTCG/AAAGTT 1 -- ds50011Minor allele frequency- A:0.00CSA 1
    rs1114064551,2
    F--69299198(+) TTGCCG/ATCTTT 1 -- ds50011Minor allele frequency- A:0.00CSA 1
    rs1490533181,2
    --69299264(+) TTTTGG/TTTGTG 1 -- ds50010--------
    rs1860165621,2
    --69299462(+) ACTATC/GTTTCA 1 -- ds50010--------
    rs1892820221,2
    --69299487(+) TTGCCA/GTGTCT 1 -- ds50010--------
    rs765882641,2
    C,F--69299489(+) GCCATG/ATCTTC 1 -- ds50011Minor allele frequency- A:0.18WA 118
    rs789981531,2
    C,F--69299716(+) TTGTGT/ATCAAA 1 -- ut311Minor allele frequency- A:0.07NA 120
    rs1813374491,2
    --69299805(+) AAGCCC/TATAAG 1 -- ut310--------
    rs1856315211,2
    --69299847(+) ATCATA/TGACAT 1 -- ut310--------
    rs1903278631,2
    --69299884(+) TAAATC/TCCTGG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for UGT2B17 (69402902 - 69434245 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for UGT2B17 (see all 50):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2421501CNV Deletion20811451
    esv2727770CNV Deletion23290073
    nsv820369CNV Deletion20802225
    esv2669141CNV Deletion23128226
    dgv951e199CNV Deletion23128226
    dgv5598n71CNV Loss21882294
    nsv436941CNV Loss16327808
    nsv822582CNV Loss20364138
    dgv89n17CNV Loss16327808
    dgv5594n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): UGT2B17
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UGT2B17
    DNA2.0 Custom Variant and Variant Library Synthesis for UGT2B17

    (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.)
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    OMIM gene information: 601903   
    OMIM disorders: 612560  
    4 diseases for UGT2B17:    
    About MalaCards
    bone mineral density qtl 12, osteoporosis    acute graft versus host disease    osteoporosis    prostate cancer

    1 disease from the University of Copenhagen DISEASES database for UGT2B17:
    Prostate cancer

    Find genes that share disorders with UGT2B17           About GenesLikeMe

    4 Novoseek inferred disease relationships for UGT2B17 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    prostate cancer 49.2 24 17826523 (5), 18247404 (5), 16896035 (4), 17935910 (4) (see all 7)
    graft-versus-host disease 42.2 2 15813850 (1), 17496542 (1)
    cancer lung 0 3 17416778 (2)
    cancer 0 2 1944327 (1), 16220109 (1)

    Genetic Association Database (GAD): UGT2B17
    Human Genome Epidemiology (HuGE) Navigator: UGT2B17 (27 documents)

    Export disorders for UGT2B17 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for UGT2B17 gene, integrated from 10 sources (see all 93):
    (articles sorted by number of sources associating them with UGT2B17)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Chromosomal localization, structure, and regulation of the UGT2B17 gene, encoding a C19 steroid metabolizing enzyme. (PubMed id 9364925)1, 2, 6, 9 Beaulieu M....Hum D.W. (DNA Cell Biol. 1997)
    2. Genome-wide copy-number-variation study identified a susceptibility gene, UGT2B17, for osteoporosis. (PubMed id 18992858)1, 2, 4, 9 Yang T.-L....Deng H.-W. (Am. J. Hum. Genet. 2008)
    3. Isolation and characterization of a novel cDNA encoding a human UDP- glucuronosyltransferase active on C19 steroids. (PubMed id 8798464)1, 2, 3, 9 Beaulieu M.... Belanger A. (J. Biol. Chem. 1996)
    4. A common deletion in the uridine diphosphate glucuronyltransferase (UGT) 2B17 gene is a strong determinant of androgen excretion in healthy pubertal boys. (PubMed id 19088161)1, 4, 9 Juul A....Ottesen A.M. (J. Clin. Endocrinol. Metab. 2009)
    5. Deletion polymorphism of the UGT2B17 gene is associated with increased risk for prostate cancer and correlated to gene expression in the prostate. (PubMed id 17387331)1, 4, 9 Karypidis A.H....EkstrAPm L. (Pharmacogenomics J. 2008)
    6. Association between polymorphisms in HSD3B1 and UGT2B17 and prostate cancer risk. (PubMed id 17826523)1, 4, 9 Park J.Y....Pow-Sang J. (Urology 2007)
    7. Deletion polymorphism of UDP-glucuronosyltransferase 2B17 and risk of prostate cancer in African American and Caucasian men. (PubMed id 16896035)1, 4, 9 Park J....Pow-Sang J. (amp 2006)
    8. The UGT2B17 gene deletion is not associated with prostate cancer risk. (PubMed id 18247404)1, 4, 9 Olsson M....GrAPnberg H. (Prostate 2008)
    9. The UGT2B17 gene deletion polymorphism and risk of prostate cancer. A case-control study in Caucasians. (PubMed id 17935910)1, 4, 9 Gallagher C.J....Lazarus P. (Cancer Detect. Prev. 2007)
    10. The uridine diphosphate glucuronosyltransferase 2B15 D85Y and 2B17 deletion polymorphisms predict the glucuronidation pattern of androgens and fat mass in men. (PubMed id 17698910)1, 4, 9 Swanson C....Ohlsson C. (J. Clin. Endocrinol. Metab. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
    Disorders
    Free Text  

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7367 HGNC: 12547 AceView: UGT2B17 Ensembl:ENSG00000197888 euGenes: HUgn7367
    ECgene: UGT2B17 Kegg: 7367 H-InvDB: UGT2B17

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for UGT2B17 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for UGT2B17 gene:
    Search GeneIP for patents involving UGT2B17

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



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