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UNG Gene

protein-coding   GIFtS: 70
GCID: GC12P109535

Uracil-DNA Glycosylase


(Previous symbol: DGU)
  See UNG-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
Uracil-DNA Glycosylase1 2     Uracil-DNA Glycosylase 21
DGU1 2 3 5     HIGM42
UDG2 3     UNG22
UNG12 3     Uracil-DNA Glycosylase 1, Uracil-DNA Glycosylase 22
UNG152 3     EC 3.2.2.273
HIGM52 5     EC 3.2.28
Uracil-DNA Glycosylase 11     

External Ids:    HGNC: 125721   Entrez Gene: 73742   Ensembl: ENSG000000762487   OMIM: 1915255   UniProtKB: P130513   

Export aliases for UNG gene to outside databases

Previous GC identifers: GC12P108593 GC12P109374 GC12P107998 GC12P106553


(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 UNG Gene:
This gene encodes one of several uracil-DNA glycosylases. One important function of uracil-DNA glycosylases is to
prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosylic bond and initiating the
base-excision repair (BER) pathway. Uracil bases occur from cytosine deamination or misincorporation of dUMP
residues. Alternative promoter usage and splicing of this gene leads to two different isoforms: the mitochondrial
UNG1 and the nuclear UNG2. The UNG2 term was used as a previous symbol for the CCNO gene (GeneID 10309), which
has been confused with this gene, in the literature and some databases. (provided by RefSeq, Nov 2010)

GeneCards Summary for UNG Gene:
UNG (uracil-DNA glycosylase) is a protein-coding gene. Diseases associated with UNG include immunodeficiency with hyper igm type 5, and congenital rubella. GO annotations related to this gene include uracil DNA N-glycosylase activity.

UniProtKB/Swiss-Prot: UNG_HUMAN, P13051
Function: Excises uracil residues from the DNA which can arise as a result of misincorporation of dUMP residues by
DNA polymerase or due to deamination of cytosine

Gene Wiki entry for UNG (Uracil-DNA glycosylase) 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_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the UNG gene promoter:
         p53   AP-2beta   AP-2alpha   AP-2gamma   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): UNG promoter sequence
   Search Chromatin IP Primers for UNG

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


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

Entrez Gene cytogenetic band: 12q23-q24.1   Ensembl cytogenetic band:  12q24.11   HGNC cytogenetic band: 12q23-q24.1

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

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P109535:  view genomic region     (about GC identifiers)

Start:
109,535,379 bp from pter      End:
109,548,798 bp from pter
Size:
13,420 bases      Orientation:
plus 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: UNG_HUMAN, P13051 (See protein sequence)
Recommended Name: Uracil-DNA glycosylase  
Size: 313 amino acids; 34645 Da
Subunit: Monomer. Interacts with FAM72A. Interacts with HIV-1 Vpr
Selected PDB 3D structures from and Proteopedia for UNG (see all 18):
1AKZ (3D)        1DPU (3D)        1EMH (3D)        1EMJ (3D)        1Q3F (3D)        1SSP (3D)    
Secondary accessions: A8K5M6 B2R8Y1 O00637 O00719 Q93028
Alternative splicing: 2 isoforms:  P13051-1   P13051-2   

Explore the universe of human proteins at neXtProt for UNG: NX_P13051

Explore proteomics data for UNG at MOPED

Post-translational modifications: 

  • Isoform 1 is processed by cleavage of a transit peptide1
  • Ubiquitination2 at Lys78
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for UNG (P13051) (see all 7)
     GQDPYHG  LGQDPYH  ILGQDPY  LVFLLWG 


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

    REFSEQ proteins (2 alternative transcripts): 
    NP_003353.1  NP_550433.1  

    ENSEMBL proteins: 
     ENSP00000242576   ENSP00000337398   ENSP00000440784   ENSP00000400287  

    UNG Human Recombinant Protein Products:

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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for UNG
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    OriGene MassSpec for UNG
    OriGene Custom Protein Services for UNG
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    Novus Biologicals UNG Proteins
    Novus Biologicals UNG Lysates
    Sino Biological Recombinant Protein for UNG
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for UNG
    Cloud-Clone Corp. Proteins for UNG

     
    Search eBioscience for Proteins for UNG 

     
    antibodies-online proteins for UNG (77 products) 

     
    antibodies-online peptides for UNG

    UNG Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of UNG
    R&D Systems Antibodies for UNG
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    Novus Biologicals UNG Antibodies
    Abcam antibodies for UNG
    Cloud-Clone Corp. Antibodies for UNG
    ThermoFisher Antibodies for UNG
    antibodies-online antibodies for UNG (83 products) 

    UNG Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for UNG
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for UNG
    Cloud-Clone Corp. CLIAs for UNG
    Search eBioscience for ELISAs for UNG 
    antibodies-online kits for UNG (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR005122 Uracil-DNA_glycosylase-like
     IPR018085 Ura-DNA_Glyclase_AS
     IPR002043 Ura_DNA_glycsylse

    Graphical View of Domain Structure for InterPro Entry P13051

    ProtoNet protein and cluster: P13051

    2 Blocks protein domains:
    IPB003249 Uracil-DNA glycosylase
    IPB005122 Uracil-DNA glycosylase superfamily


    UniProtKB/Swiss-Prot: UNG_HUMAN, P13051
    Similarity: Belongs to the uracil-DNA glycosylase family


    Find genes that share domains with UNG           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: UNG_HUMAN, P13051
    Function: Excises uracil residues from the DNA which can arise as a result of misincorporation of dUMP residues by
    DNA polymerase or due to deamination of cytosine
    Catalytic activity: Hydrolyzes single-stranded DNA or mismatched double-stranded DNA and polynucleotides,
    releasing free uracil

         Genatlas biochemistry entry for UNG:
    DNA glycosylase,uracil,nuclear form (UNG2),and mitochondrial form (UNG1),base excision repair

         Enzyme Numbers (IUBMB): EC 3.2.22 EC 3.2.2.271

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004844uracil DNA N-glycosylase activity NAS9016624
         
    Find genes that share ontologies with UNG           About GenesLikeMe


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ung):
     cellular  hematopoietic system  homeostasis/metabolism  immune system  mortality/aging 
     nervous system  normal  tumorigenesis 

    Find genes that share phenotypes with UNG           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for UNG: Ungtm1Mend Ungtm1Tld

       genOway: Develop your customized and physiologically relevant rodent model for UNG

    miRNA
    Products:
        
    miRTarBase miRNAs that target UNG:
    hsa-mir-28-5p (MIRT049999), hsa-mir-215-5p (MIRT024454), hsa-mir-16-5p (MIRT007301), hsa-mir-24-3p (MIRT030474), hsa-mir-192-5p (MIRT026620), hsa-mir-199a-5p (MIRT007303), hsa-mir-125b-5p (MIRT045987), hsa-mir-34c-5p (MIRT007302), hsa-mir-129-2-3p (MIRT038623)

    Block miRNA regulation of human, mouse, rat UNG using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate UNG (see all 16):
    hsa-miR-15a hsa-miR-449a hsa-miR-424 hsa-miR-199b-5p hsa-miR-195 hsa-miR-15b hsa-miR-18a hsa-miR-34c-5p
    SwitchGear 3'UTR luciferase reporter plasmidUNG 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for UNG
    Predesigned siRNA for gene silencing in human, mouse, rat UNG

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for UNG

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    OriGene ORF clones in mouse, rat for UNG
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    GenScript: all cDNA clones in your preferred vector (see all 2): UNG (NM_003362)
    Sino Biological Human cDNA Clone for UNG
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UNG
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UNG
    Addgene plasmids for UNG 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for UNG 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UNG


    (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
    UNG_HUMAN, P13051: Isoform 1: Mitochondrion
    UNG_HUMAN, P13051: Isoform 2: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus5

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS9016624
    GO:0005739mitochondrion IEA--

    Find genes that share ontologies with UNG           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 UNG About    
    See pathways by source

    SuperPathContained pathways About
    1Resolution of Abasic Sites (AP sites)
    Base excision repair0.53
    2Primary immunodeficiency
    Primary immunodeficiency


    Find genes that share SuperPaths with UNG           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for UNG
        DNA Repair Mechanisms



    2 Kegg Pathways  (Kegg details for UNG):
        Base excision repair
    Primary immunodeficiency

        Pathway & Disease-focused RT2 Profiler PCR Arrays including UNG: 
              DNA Damage Signaling Pathway in human mouse rat
              DNA Repair in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for UNG

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

    Selected Interacting proteins for UNG (P130512, 3 ENSP000002425764) via UniProtKB, MINT, STRING, and/or I2D (see all 66)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PCNAP120043, ENSP000003684384I2D: score=3 STRING: ENSP00000368438
    APEX2Q9UBZ43, ENSP000003641264I2D: score=1 STRING: ENSP00000364126
    HSPB1P047923, ENSP000002485534I2D: score=1 STRING: ENSP00000248553
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    RPA2P159273, ENSP000003630214I2D: score=3 STRING: ENSP00000363021
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair TAS1923798
    GO:0006284base-excision repair IEA--
    GO:0016032viral process IEA--
    GO:0016446somatic hypermutation of immunoglobulin genes IEA--
    GO:0016447somatic recombination of immunoglobulin gene segments IEA--

    Find genes that share ontologies with UNG           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 UNG

    3 DrugBank Compounds for UNG    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    1-(2-DEOXY-5-O-PHOSPHONO-BETA-D-ERYTHRO-PENTOFURANOSYL)-4-METHYL-1H-INDOLE-- --target--10592235
    3-[(1E,7E)-8-(2,6-dioxo-1,2,3,6-tetrahydropyrimidin-4-yl)-3,6-dioxa-2,7-diazaocta-1,7-dien-1-yl]benzoic acid-- --target--10592235
    4-[(1E,7E)-8-(2,6-DIOXO-1,2,3,6-TETRAHYDROPYRIMIDIN-4-YL)-3,6-DIOXA-2,7-DIAZAOCTA-1,7-DIEN-1-YL]BENZOIC ACID-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for UNG gene (see all 52)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cytosine 85 40 8670846 (3), 10805771 (1), 15684068 (1), 17135186 (1) (see all 23)
    deoxyuridine 80 19 11412125 (2), 11551943 (2), 7607485 (2), 11027138 (1) (see all 8)
    5-formyluracil 79.6 8 19365746 (1), 12718543 (1), 15466595 (1)
    cytidine 78.3 20 16378989 (2), 15967827 (1), 17090531 (1), 19010771 (1) (see all 9)
    5-hydroxymethyluracil 77.9 7 11800595 (1), 12718543 (1), 15466595 (1)
    thymine 77.2 16 17017766 (2), 8670846 (2), 15581354 (1), 8346023 (1) (see all 10)
    dutp 72.1 23 1762930 (1), 12188441 (1), 9843658 (1), 12369930 (1) (see all 15)
    zd9331 67 1 12565992 (1)
    5-hydroxyuracil 64.6 5 12718543 (1), 15466595 (1)
    dialuric acid 63.8 3 7758578 (3)



    Find genes that share compounds with UNG           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 UNG gene (2 alternative transcripts): 
    NM_003362.3  NM_080911.2  

    Unigene Cluster for UNG:

    Uracil-DNA glycosylase
    Hs.191334  [show with all ESTs]
    Unigene Representative Sequence: NM_003362
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000242576(uc001tnz.2) ENST00000540158 ENST00000336865(uc001toa.2)
    ENST00000539287 ENST00000446767
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate UNG (see all 16):
    hsa-miR-15a hsa-miR-449a hsa-miR-424 hsa-miR-199b-5p hsa-miR-195 hsa-miR-15b hsa-miR-18a hsa-miR-34c-5p
    SwitchGear 3'UTR luciferase reporter plasmidUNG 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat UNG
    Clone
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    Addgene plasmids for UNG 
    Primer
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    OriGene qPCR primer pairs and template standards for UNG
    OriGene qSTAR qPCR primer pairs in human, mouse for UNG
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UNG
      QuantiTect SYBR Green Assays in human, mouse, rat UNG
      QuantiFast Probe-based Assays in human, mouse, rat UNG

    Additional mRNA sequence: 

    AK291341.1 AK299416.1 AK313552.1 BC015205.1 BC050634.2 CR541673.1 CR749342.1 X15653.1 
    Y09008.1 

    15 DOTS entries:

    DT.92437903  DT.100827328  DT.100772449  DT.100647961  DT.101969226  DT.100827342  DT.100827336  DT.99995336 
    DT.100827338  DT.100037125  DT.100827326  DT.121214491  DT.95142793  DT.95142796  DT.95142797 

    Selected AceView cDNA sequences (see all 330):

    AU279887 BX438441 CR596393 BU168154 BQ048928 BP870791 BU161952 AA583479 
    AA486429 AI476572 T29480 AI493913 BF792854 BX366166 NM_080911 BM698838 
    CD672939 BU176423 CR749342 BX280889 AA807765 BU622689 BX346912 AI140058 

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


    UNG expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Hindgut
     
     Thymus (Hematopoietic System)
             Thymus
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    UNG Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UNG Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.191334

    UniProtKB/Swiss-Prot: UNG_HUMAN, P13051
    Tissue specificity: Isoform 1 is widely expressed with the highest expression in skeletal muscle, heart and
    testicles. Isoform 2 has the highest expression levels in tissues containing proliferating cells

        Pathway & Disease-focused RT2 Profiler PCR Arrays including UNG: 
              DNA Damage Signaling Pathway in human mouse rat
              DNA Repair in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for UNG
    OriGene qSTAR qPCR primer pairs in human, mouse for UNG
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UNG
    QuantiTect SYBR Green Assays in human, mouse, rat UNG
    QuantiFast Probe-based Assays in human, mouse, rat UNG
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UNG

    (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 eukaryotes.

    Orthologs for UNG gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ung1 , 5 uracil DNA glycosylase1, 5 83.66(n)1
    86.93(a)1
      5 (55.97 cM)5
    222561  NM_001040691.11  NP_001035781.11 
     1141303865 
    chicken
    (Gallus gallus)
    Aves UNG1 uracil-DNA glycosylase 73.58(n)
    75.59(a)
      374010  NM_204189.1  NP_989520.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.66492 Xenopus laevis transcribed sequence with moderate similarity more 75.13(n)    CA973075.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc561022 similar to uracil-DNA glycosylase 79.95(n)   393949  BC045912.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y56A3A.29a3
    ung-11
    ung-11 54(a)3
    54.59(n)1
    55.5(a)1
      III(12043268-12045734)3
    1766331  NM_067159.51  NP_499560.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UNG1(YML021C)4
    UNG11
    Uracil-DNA glycosylase, required for repair of uracil more4
    UNG11
    52.56(n)1
    55.35(a)1
      13(230813-229734)4
    8549871, 4  NP_013691.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons UNG1 UNG 55.35(n)
    55.81(a)
      821394  NM_112749.4  NP_188493.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g06734001 Os04g0673400 57.22(n)
    56.7(a)
      4337373  NM_001060767.1  NP_001054232.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UNG gene
    1 SIMAP similar gene for UNG using alignment to 3 protein entries:     UNG_HUMAN (see all proteins):
    DKFZp781L1143

    Find genes that share paralogs with UNG           About GenesLikeMe


    4 Pseudogenes.org Pseudogenes for UNG
    PGOHUM00000247873 PGOHUM00000249131 PGOHUM00000245993 PGOHUM00000235442


    (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 UNG (see all 454)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0170944
    Immunodeficiency with hyper-IgM 5 (HIGM5)4--see VAR_0170942 F S mis40--------
    rs1048943801,2
    Cpathogenic1109338589(+) TGTTTC/TCTTGC 4 S F mis10--------
    rs1440833631,2
    Cprobable-non-pathogenic1109333572(+) GCCCTA/C/GCTCAG 4 L syn11NA 3052
    rs7595611,2
    C,F,A,H--109330641(+) CATTTT/CGGGGA 1 -- us2k113Minor allele frequency- C:0.36NA WA CSA EA 505
    rs110647541,2
    C--109330652(+) TGGAGA/GCAGAA 1 -- us2k12Minor allele frequency- G:0.12WA 120
    rs38909951,2
    C,F,A,H--109330751(+) AGTTAT/CAGAGC 1 -- us2k131Minor allele frequency- C:0.23NS EA NA WA 3268
    rs1808666791,2
    --109330819(+) GAGACC/GTGAGG 1 -- us2k10--------
    rs1407560981,2
    --109330987(+) CTAAGA/CCTTTT 1 -- us2k10--------
    rs38479541,2
    C,F,A,H--109330997(-) TTGGTT/CTTCAA 1 -- us2k119Minor allele frequency- C:0.24NS EA NA WA CSA 2344
    rs2004924691,2
    --109331043(+) TTTTC-/TTTTTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for UNG (109535379 - 109548798 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for UNG:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422361CNV Duplication17116639
    esv1652073CNV Insertion17803354
    nsv526106CNV Loss19592680

    Human Gene Mutation Database (HGMD): UNG
    Locus Specific Mutation Databases (LSDB): UNG

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UNG
    DNA2.0 Custom Variant and Variant Library Synthesis for UNG

    (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: 191525   
    OMIM disorders: 608106  
    UniProtKB/Swiss-Prot: UNG_HUMAN, P13051
  • Immunodeficiency with hyper-IgM 5 (HIGM5) [MIM:608106]: A rare immunodeficiency syndrome characterized by
    normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to
    bacterial infections. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 6 diseases for UNG:    
    About MalaCards
    immunodeficiency with hyper igm type 5    congenital rubella    rubella    bloom syndrome
    colon adenocarcinoma    colorectal cancer


    Find genes that share disorders with UNG           About GenesLikeMe

    Selected Novoseek inferred disease relationships for UNG gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyper-igm syndrome 75.4 5 12958596 (1), 15661022 (1), 14985856 (1), 19302039 (1)
    bloom syndrome 53.6 2 2106500 (1), 1742335 (1)
    immunodeficiency 33.4 8 9151883 (1), 10888643 (1), 15096517 (1), 16103149 (1) (see all 6)
    herpes simplex 29 16 18468698 (2), 10395474 (2), 8391260 (2), 7845459 (1) (see all 9)
    colon adenocarcinoma 6.14 2 11554295 (1)
    colon cancer 3.79 1 8625314 (1)
    tumors 1.93 11 11172609 (3), 15182505 (2), 1688517 (2), 15814641 (1) (see all 5)
    mimicry 0.176 4 7671300 (2), 11859082 (1)
    cancer lung 0 7 15182505 (5)
    glioma 0 4 1354431 (1), 9852992 (1), 10980411 (1), 15681472 (1)

    Genetic Association Database (GAD): UNG
    Human Genome Epidemiology (HuGE) Navigator: UNG (17 documents)

    Export disorders for UNG 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 UNG gene, integrated from 10 sources (see all 367):
    (articles sorted by number of sources associating them with UNG)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cell cycle regulation and in vitro hybrid arrest analysis of the major human uracil-DNA glycosylase. (PubMed id 1923798)1, 3, 9 Slupphaug G....Krokan H.E. (Nucleic Acids Res. 1991)
    2. Nuclear and mitochondrial forms of human uracil-DNA glycosylase are encoded by the same gene. (PubMed id 8332455)1, 2, 9 Slupphaug G.... Helland D.E. (Nucleic Acids Res. 1993)
    3. Base excision repair initiation revealed by crystal structures and binding kinetics of human uracil-DNA glycosylase with DNA. (PubMed id 9724657)1, 2, 9 Parikh S.S....Tainer J.A. (EMBO J. 1998)
    4. Nuclear and mitochondrial uracil-DNA glycosylases are generated by alternative splicing and transcription from different positions in the UNG gene. (PubMed id 9016624)1, 2, 9 Nilsen H.... Krokan H.E. (Nucleic Acids Res. 1997)
    5. Crystal structure of human uracil-DNA glycosylase in complex with a protein inhibitor: protein mimicry of DNA. (PubMed id 7671300)1, 2, 9 Mol C.D.... Tainer J.A. (Cell 1995)
    6. Polymorphisms in uracil-processing genes, but not one-carbon nutrients, are associated with altered DNA uracil concentrations in an urban Puerto Rican population. (PubMed id 19403629)1, 4, 9 Chanson A....Mason J.B. (Am. J. Clin. Nutr. 2009)
    7. Human immunodeficiency virus type 1 Vpr protein binds to the uracil DNA glycosylase DNA repair enzyme. (PubMed id 8551605)1, 2, 9 Bouhamdan M.... Sire J. (J. Virol. 1996)
    8. Excision of cytosine and thymine from DNA by mutants of human uracil- DNA glycosylase. (PubMed id 8670846)1, 2, 9 Kavli B.... Krohan H.E. (EMBO J. 1996)
    9. Different organization of base excision repair of uracil in DNA in nuclei and mitochondria and selective upregulation of mitochondrial uracil-DNA glycosylase after oxidative stress. (PubMed id 17101234)1, 3, 9 Akbari M....Krokan H.E. (Neuroscience 2007)
    10. B cells from hyper-IgM patients carrying UNG mutations lack ability to remove uracil from ssDNA and have elevated genomic uracil. (PubMed id 15967827)1, 2, 9 Kavli B.... Slupphaug G. (J. Exp. Med. 2005)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7374 HGNC: 12572 AceView: UNG Ensembl:ENSG00000076248 euGenes: HUgn7374
    ECgene: UNG Kegg: 7374 H-InvDB: UNG

    (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 UNG Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for UNG Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=UNG[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/ung/
    UNGbasehttp://bioinf.uta.fi/UNGbase/

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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