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UGT2A1 Gene

protein-coding   GIFtS: 61
GCID: GC04M070454

UDP Glucuronosyltransferase 2 Family, Polypeptide A1, Complex...

(Previous names: UDP glycosyltransferase 2 family, polypeptide A1, UDP glucuronosyltransferase...)
  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)
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Aliases
UDP Glucuronosyltransferase 2 Family, Polypeptide A1, Complex Locus1 2     UDP Glucuronosyltransferase 2 Family, Polypeptide A11
UDP Glycosyltransferase 2 Family, Polypeptide A11 2     UDP-Glucuronosyltransferase 2A12
UDPGT 2A12 3     UGT2A23
EC 2.4.1.173 8     

External Ids:    HGNC: 125421   Entrez Gene: 109412   Ensembl: ENSG000001736107   OMIM: 6047165   UniProtKB: Q9Y4X13   

Export aliases for UGT2A1 gene to outside databases

Previous GC identifers: GC04P070020 GC04M070503 GC04M070704 GC04M070770 GC04M070635


(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 UGT2A1 Gene:
The protein encoded by this gene belongs to the UDP-glycosyltransferase family, members of which catalyze
biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water
solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of
potentially toxic xenobiotics and endogenous compounds. This enzyme is expressed in the olfactory
neuroepithelium, which lines the posterior nasal cavity and is exposed to a wide range of odorants and airborne
toxic compounds. Hence, this protein has been suggested to be involved in clearing lipophilic odorant molecules
from the sensory epithelium. Alternatively spliced transcript variants encoding different isoforms have been
found for this gene. (provided by RefSeq, Nov 2011)

GeneCards Summary for UGT2A1 Gene:
UGT2A1 (UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus) is a protein-coding gene. Diseases associated with UGT2A1 include fascioliasis, and kernicterus. GO annotations related to this gene include glucuronosyltransferase activity. An important paralog of this gene is UGT2A2.

UniProtKB/Swiss-Prot: UD2A1_HUMAN, Q9Y4X1
Function: UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic
substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of
major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous
compounds. Active on odorants and seems to be involved in olfaction; it could help clear lipophilic odorant
molecules from the sensory epithelium

Gene Wiki entry for UGT2A1 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:
NC_000004.12  NC_018915.2  NT_016354.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the UGT2A1 gene promoter:
         POU2F2 (Oct-2.1)   oct-B3   oct-B2   STAT5A   Cdc5   POU2F2   POU2F2C   POU2F1   POU2F1a   POU2F2B   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUGT2A1 promoter sequence
   Search Chromatin IP Primers for UGT2A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UGT2A1


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

Entrez Gene cytogenetic band: 4q13   Ensembl cytogenetic band:  4q13.3   HGNC cytogenetic band: 4q13

UGT2A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UGT2A1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M070454:  view genomic region     (about GC identifiers)

Start:
70,454,135 bp from pter      End:
70,518,965 bp from pter
Size:
64,831 bases      Orientation:
minus strand

1 alternative location:
Chr4- 70,454,912-70,518,967     

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: UD2A1_HUMAN, Q9Y4X1 (See protein sequence)
Recommended Name: UDP-glucuronosyltransferase 2A1 precursor  
Size: 527 amino acids; 59926 Da
Caution: According to HGNC, UGT2A1 and UGT2A2 are 2 separate genes. However, they share common exons at the
C-terminus, suggesting that UGT2A1 and UGT2A2 are different isoforms encoded by the same locus
Secondary accessions: B4E2F4 D3GER1 D3GER2 E9PDM7 J3KNA3
Alternative splicing: 5 isoforms:  Q9Y4X1-1   Q9Y4X1-2   Q9Y4X1-3   Q9Y4X1-4   Q9Y4X1-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UGT2A1: NX_Q9Y4X1

Explore proteomics data for UGT2A1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn49, Asn313, Asn347
  • Selected DME Specific Peptides for UGT2A1 (Q9Y4X1) (see all 19)
     AFITHGG  SHWLNVK  LLGHPKT  QYHSLDV 


    See UGT2A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001239203.1  NP_001239204.1  NP_006789.2  

    ENSEMBL proteins: 
     ENSP00000424478   ENSP00000421432   ENSP00000286604   ENSP00000427709  
    Reactome Protein details: Q9Y4X1

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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 Q9Y4X1

    ProtoNet protein and cluster: Q9Y4X1

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

    UniProtKB/Swiss-Prot: UD2A1_HUMAN, Q9Y4X1
    Similarity: Belongs to the UDP-glycosyltransferase family


    UGT2A1 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UD2A1_HUMAN, Q9Y4X1
    Function: UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic
    substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of
    major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous
    compounds. Active on odorants and seems to be involved in olfaction; it could help clear lipophilic odorant
    molecules from the sensory epithelium
    Catalytic activity: UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside
    Biophysicochemical properties: Kinetic parameters: KM=75.4 uM for 3-hydroxybiphenyl; KM=59.5 uM for umbelliferone;
    KM=51.6 uM for S-(-)-b-citronellol; KM=170.1 uM for borneol; KM=56.2 uM for testosterone; KM=251 uM for
    UDP-glucuronate; Vmax=2.60 nmol/min/mg enzyme with 3-hydroxybiphenyl as substrate; Vmax=0.61 nmol/min/mg enzyme
    with umbelliferone as substrate; Vmax=1.98 nmol/min/mg enzyme with S-(-)-b-citronellol as substrate; Vmax=1.05
    nmol/min/mg enzyme with borneol as substrate; Vmax=0.25 nmol/min/mg enzyme with testosterone as substrate;

         Genatlas biochemistry entry for UGT2A1:
    UDP glucoronosyltransferase 2 alpha 1,specific for the olfactory tissue

         Enzyme Number (IUBMB): EC 2.4.1.171 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015020glucuronosyltransferase activity IEA--
    GO:0016758transferase activity, transferring hexosyl groups ----
    GO:0030246carbohydrate binding ----
         
    UGT2A1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for UGT2A1:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UGT2A1
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    miRNA
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    miRTarBase miRNAs that target UGT2A1:
    hsa-mir-26b-5p (MIRT030180)

    Block miRNA regulation of human, mouse, rat UGT2A1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate UGT2A1:
    hsa-miR-4282
    SwitchGear 3'UTR luciferase reporter plasmidUGT2A1 3' UTR sequence
    Inhib. RNA
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    (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
    UD2A1_HUMAN, Q9Y4X1: Membrane; Single-pass type I membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus3
    peroxisome3
    cytoskeleton1
    cytosol1
    extracellular1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    UGT2A1 for ontologies           About GeneDecksing


    (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 UGT2A1 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for UGT2A1
        Glucuronidation
    metapathway biotransformation

    1 Reactome Pathway for UGT2A1
        Glucuronidation


    Selected Kegg Pathways  (Kegg details for UGT2A1) (see all 11):
        Pentose and glucuronate interconversions
    Ascorbate and aldarate metabolism
    Steroid hormone biosynthesis
    Starch and sucrose metabolism
    Retinol metabolism


    UGT2A1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including UGT2A1: 
              Drug Metabolism: Phase II Enzymes in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for UGT2A1

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

    Selected Interacting proteins for UGT2A1 (ENSP000002866044) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADH4ENSP000002655124STRING: ENSP00000265512
    AKR1D1ENSP000002423754STRING: ENSP00000242375
    ALDH1A1ENSP000002977854STRING: ENSP00000297785
    CES2ENSP000003178424STRING: ENSP00000317842
    COMTENSP000003545114STRING: ENSP00000354511
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process ----
    GO:0007608sensory perception of smell IEA--
    GO:0008152metabolic process TAS10359671
    GO:0009593detection of chemical stimulus TAS10359671
    GO:0030259lipid glycosylation ----

    UGT2A1 for ontologies           About GeneDecksing



    (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 UGT2A1 (UD2A1)

    Selected HMDB Compounds for UGT2A1 (see all 83)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (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--
    17-alpha-estradiol-3-glucuronide ----
    17-beta-estradiol glucuronide ----



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for UGT2A1 gene (3 alternative transcripts): 
    NM_001252274.1  NM_001252275.1  NM_006798.3  

    Unigene Cluster for UGT2A1:

    UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus
    Hs.225950  [show with all ESTs]
    Unigene Representative Sequence: NM_001252274
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000503640(uc003hem.4 uc011caq.2 uc010ihu.3) ENST00000512704(uc010iht.3)
    ENST00000286604 ENST00000502343 ENST00000514341 ENST00000505512
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    hsa-miR-4282
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      QuantiFast Probe-based Assays in human, mouse, rat UGT2A1

    Additional mRNA sequence: 

    AJ006054.1 AK304249.1 AK314209.1 BC142640.1 FJ664272.1 FJ664273.1 

    2 DOTS entries:

    DT.92415436  DT.91913500 

    7 AceView cDNA sequences:

    CD105882 NM_006798 BX283268 AJ006054 BG400151 BG185464 BG186196 

    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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    UGT2A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTATTATTA
    UGT2A1 Expression
    About this image


    UGT2A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Heart (Cardiovascular System)
             Atrioventricular Node
    UGT2A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UGT2A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.225950

    UniProtKB/Swiss-Prot: UD2A1_HUMAN, Q9Y4X1
    Tissue specificity: Olfactory epithelium and brain. Isoform 2 is mainly expressed in the nasal mucosa

        Pathway & Disease-focused RT2 Profiler PCR Arrays including UGT2A1: 
              Drug Metabolism: Phase II Enzymes in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for UGT2A1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UGT2A1

    (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 chordates.

    Orthologs for UGT2A1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ugt2a11 , 5 UDP glucuronosyltransferase 2 family, polypeptide A11, 5 85.31(n)1
    88.54(a)1
      5 (43.56 cM)5
    942151  NM_053184.21  NP_444414.21 
     874594905 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.114192 Transcribed sequence with moderate similarity to protein more 75.84(n)    CK028589.1 


    ENSEMBL Gene Tree for UGT2A1 (if available)
    TreeFam Gene Tree for UGT2A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UGT2A1 gene
    UGT2A22  UGT1A82  UGT3A12  UGT1A72  UGT2B112  UGT2B72  UGT1A32  UGT1A12  
    UGT3A22  UGT1A52  UGT2B102  UGT1A102  UGT1A62  UGT82  UGT2B152  UGT2B42  
    UGT2A32  UGT2B172  UGT2B282  UGT1A92  UGT1A42  
    Selected SIMAP similar genes for UGT2A1 using alignment to 3 protein entries:     UD2A1_HUMAN (see all proteins) (see all similar genes):
    UGT2A2    UGT2A3    UGT2B11    UGT2B4    UGT2B17    UGT2B28
    UGT2B7    UGT2B15    UGT2B10    UGT1A3S    UGT1A6    UGT1A9S
    UGT1    UGT1A1    BILIQTL1    UGT1A8S    UGT1A6S    UGT1A10

    UGT2A1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), 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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    Selected SNPs for UGT2A1 (see all 348)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1460494541,2
    C--70507420(+) GGAGTC/TTGATA 3 -- int10--------
    rs794422331,2
    C,F--70507545(+) TAATGC/GAGGTA 3 -- int12Minor allele frequency- G:0.09NA 122
    rs1864145981,2
    --70507636(+) ATCAAA/GTTAAT 3 -- int10--------
    rs1401916031,2
    --70507732(+) CTCAAA/TCACTG 3 -- int10--------
    rs23316851,2
    C,F,O,A,H--70507794(+) ATAGGC/TTATTA 3 -- int120Minor allele frequency- T:0.32NS EA NA WA CSA 2346
    rs1438513671,2
    --70507861(+) TAAAAC/TTCAAG 3 -- int10--------
    rs1881244911,2
    --70507892(+) AACTTC/GCATTT 3 -- int10--------
    rs41482871,2
    C--70508064(-) TTTGAA/CAAATC 3 -- int11Minor allele frequency- C:0.00NA 2
    rs1810224161,2
    --70508134(+) GAGAGG/TAAAGC 3 -- int10--------
    rs1497009481,2
    --70508144(+) CAAAGG/TAATGA 3 -- int10--------

    HapMap Linkage Disequilibrium report for UGT2A1 (70454135 - 70518965 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for UGT2A1 (see all 20):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2658506CNV Deletion23128226
    dgv93n16CNV Deletion17901297
    esv1001272CNV Deletion20482838
    dgv659n27CNV Loss19166990
    nsv521416CNV Loss19592680
    esv24189CNV Loss19812545
    nsv499046CNV Loss21111241
    nsv511264CNV Loss21212237
    nsv461552CNV Loss19166990
    nsv514225CNV Loss21397061

    Human Gene Mutation Database (HGMD): UGT2A1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UGT2A1
    DNA2.0 Custom Variant and Variant Library Synthesis for UGT2A1

    (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.)
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    OMIM gene information: 604716    OMIM disorders: --

    3 diseases for UGT2A1:    
    About MalaCards
    fascioliasis    kernicterus    gilbert syndrome

    1 disease from the University of Copenhagen DISEASES database for UGT2A1:
    Gilbert syndrome

    UGT2A1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): UGT2A1
    Human Genome Epidemiology (HuGE) Navigator: UGT2A1 (3 documents)

    Export disorders for UGT2A1 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 UGT2A1 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with UGT2A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of a novel human olfactory UDP- glucuronosyltransferase. (PubMed id 10359671)1, 2, 3 Jedlitschky G.A.... Burchell B. (Biochem. J. 1999)
    2. Human UDP-glucuronosyltransferase UGT2A2: cDNA construction, expression, and functional characterization in comparison with UGT2A1 and UGT2A3. (PubMed id 19858781)1, 2 Sneitz N.... Finel M. (Pharmacogenet. Genomics 2009)
    3. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1, 4 Saito A....Kamatani N. (J. Hum. Genet. 2009)
    4. Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy. (PubMed id 19898482)1, 4 Ross C.J....Hayden M.R. (Nat. Genet. 2009)
    5. Identification and functional characterization of a novel UDP-glucuronosyltransferase 2A1 splice variant: potential importance in tobacco-related cancer susceptibility. (PubMed id 22984225)1 Bushey R.T. and Lazarus P. (J. Pharmacol. Exp. Ther. 2012)
    6. Characterization of UDP-glucuronosyltransferase 2A1 (UGT2A1) variants and their potential role in tobacco carcinogenesis. (PubMed id 21164388)1 Bushey R.T....Lazarus P. (Pharmacogenet. Genomics 2011)
    7. Single-nucleotide polymorphisms, acute rejection, and severity of tubulitis in kidney transplantation, accounting for center-to-center variation. (PubMed id 21085059)4 Israni A....Oetting W.S. (Transplantation 2010)
    8. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    9. Nomenclature update for the mammalian UDP glycosyltransferase (UGT) gene superfamily. (PubMed id 16141793)1 Mackenzie P.I....Nebert D.W. (Pharmacogenet. Genomics 2005)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 10941 HGNC: 12542 AceView: UGT2A1 Ensembl:ENSG00000173610 euGenes: HUgn10941
    ECgene: UGT2A1 Kegg: 10941 H-InvDB: UGT2A1

    (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)
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    NameDescription
    PharmGKB entry for UGT2A1 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 UGT2A1 gene:
    Search GeneIP for patents involving UGT2A1

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



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