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

UNG Gene

protein-coding   GIFtS: 67
GCID: GC12P109535

uracil-DNA glycosylase


(Previous symbol: DGU)
 Explore 34 diseases affiliated with
UNG via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for UNG    

Aliases
for UNG gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Uracil-DNA Glycosylase1 2     UNG152 3
DGU1 2 3 5     HIGM52
UDG1 2 3     Uracil-DNA Glycosylase 1, Uracil-DNA Glycosylase 22
UNG11 2 3     EC 3.2.2.273
HIGM41 2 5     EC 3.2.28
UNG21 2     

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


Summaries
for UNG gene

(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 UNG:
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)

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)


Genomic Views
for UNG 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009775.17  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for UNG

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for UNG gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Isoform 1: Mitochondrion
Subcellular location: Isoform 2: Nucleus
6/18 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

Post-translational modifications:

  • Isoform 1 is processed by cleavage of a transit peptide1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P13051

    • 4/7 DME Specific Peptides for UNG (P13051) (see all 7)
     GQDPYHG  LGQDPYH  ILGQDPY  LVFLLWG 

    UNG Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000242576   ENSP00000337398   ENSP00000440784   ENSP00000400287   ENSP00000438623  

    Human Recombinant Protein Products: 
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    OriGene Purified Protein: UNG
    OriGene Protein Over-expression Lysate (see all 2): UNG
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    Novus Biologicals UNG Proteins
    Novus Biologicals UNG Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for UNG
    Uscn Proteins for UNG

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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


    UNG for ontologies           About GeneDecksing



    UNG Antibody Products: 
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    Abcam antibodies for UNG 
    Uscn Antibodies for UNG
    ThermoFisher Antibody for UNG

    Assay Products for UNG: 
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    Uscn ELISAs and CLIAs for UNG

    Protein Domains /
    Families
    for UNG gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    UNG for domains           About GeneDecksing

    3 InterPro domains/families:
     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 families:
    IPB003249 Uracil-DNA glycosylase
    IPB005122 Uracil-DNA glycosylase superfamily


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


    Function
    for UNG gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat UNG
    8/16 QIAGEN miScript miRNA 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 plasmid: UNG 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for UNG (see all 6)
    Browse OriGene siRNA
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    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for UNG

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for UNG (see all 7)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): UNG (NM_003362)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UNG
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UNG 

    Cell Line
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    Search LifeMap BioReagents cell lines for UNG

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UNG

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004844uracil DNA N-glycosylase activity NAS9016624


    UNG for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for UNG: Ungtm1Mend Ungtm1Tld
         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 

    UNG for phenotypes           About GeneDecksing


    Pathways & Interactions
    for UNG gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Primary immunodeficiency
    		Primary immunodeficiency1.00
    2Resolution of Abasic Sites (AP sites)
    		Base excision repair0.51

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



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


    UNG for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UNG

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

    5/50 Interacting proteins for UNG (P130512, 3 ENSP000002425764) via UniProtKB, MINT, STRING, and/or I2D (see all 50)
    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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair NAS--
    GO:0006284base-excision repair IEA--
    GO:0016446somatic hypermutation of immunoglobulin genes IEA--
    GO:0016447somatic recombination of immunoglobulin gene segments IEA--
    GO:0019048virus-host interaction IEA--


    UNG for ontologies           About GeneDecksing



    Drugs & Compounds
    for UNG gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    UNG for compounds           About GeneDecksing

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

    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

    10/52 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about UNG 

    Transcripts
    for UNG gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000242576(uc001tnz.2) ENST00000540158 ENST00000336865(uc001toa.2)
    ENST00000539287 ENST00000446767 ENST00000542183

    miRNA
    Products:             		 OriGene 3'-UTR Clone (see all 2): UNG
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat UNG
    8/16 QIAGEN miScript miRNA 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 plasmid: UNG 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for UNG (see all 6)
    Browse OriGene siRNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): UNG (NM_003362)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UNG 
    Primer
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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat UNG
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat UNG
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UNG

    Additional cDNA 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 

    24/330 AceView cDNA sequences (see all 330):

    AI362375 NM_003362 AA295203 CR596393 BF792854 BI833004 CR619335 BX098770 
    BM698838 AA507484 BQ670076 BP870791 BU187892 BQ882986 BU681754 BU176423 
    N35874 F01382 AA807765 BI915233 BM799989 AL559968 BM978062 CR613619 

    GeneLoc Exon Structure


    Expression
    for UNG gene

    (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

    UNG expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAGATATATA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    UNG expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    7 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Gut TubeMidgutMidgut Endoderm CellsEndoderm
    BrainMedulla OblongataBrain
    Gut TubeMidgutGut Tube
    Neural TubeDiencephalic Ventricular ZoneNeural Tube
    Neural TubeMesencephalic Ventricular ZoneNeural Tube
    Neural TubeMetencephalonNeural Tube
    Neural TubeTelencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including UNG: 
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              DNA Repair in human mouse rat

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UNG

    Orthologs
    for UNG gene

    (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 last universal common ancestor (LUCA).

    Orthologs for UNG gene from 9/35 species (see all 35)    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 73.8(n)
    76.59(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    		 Protein UNG-11 54(a)3
    54.43(n)1
    55.5(a)1    		   III(12043268-12045734)3
    1766331  NM_067159.41  NP_499560.11 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes UNG1(YML021C)4
    UNG11    		 Uracil-DNA glycosylase, required for repair of uracil more4
    Ung1p1    		 48.1(n)1
    45.3(a)1    		   13(230813-229734)4
    8549871, 4  NP_013691.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons UNG1 uracil dna glycosylase 51.72(n)
    48.84(a)    		   821394  NM_112749.4  NP_188493.1 
    rice
    (Oryza sativa)    		 Liliopsida Os04g06734001 hypothetical protein 52.57(n)
    50.2(a)    		   4337373  NM_001060767.1  NP_001054232.1 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria ung6
    		 uracil-DNA-glycosylase
    		 55(a)
    		 1 ↔ 1
    		 Chromosome(2714776-2715465)


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

    Paralogs
    for UNG gene

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

    UNG for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for UNG
    PGOHUM00000247873 PGOHUM00000249131 PGOHUM00000245993 PGOHUM00000235442


    Genomic Variants
    for UNG gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/363 NCBI SNPs in UNG are shown (see all 363)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048943801,2
    		Cpathogenic109541367(+) TGTTTC/TCTTGC 4 S F mis10--------
    rs1440833631,2
    		C,probable-non-pathogenic109536350(+) GCCCTA/C/GCTCAG 6 L syn11NA 3052
    rs7595611,2
    		C,F,A,H,--109533419(+) CATTTT/CGGGGA 1 -- us2k113Minor allele frequency- C:0.36NA WA CSA EA 505
    rs110647541,2
    		C,--109533430(+) TGGAGA/GCAGAA 1 -- us2k12Minor allele frequency- G:0.12WA 120
    rs38909951,2
    		C,F,A,H,--109533529(+) AGTTAT/CAGAGC 1 -- us2k131Minor allele frequency- C:0.23NS EA NA WA 3268
    rs1808666791,2
    		--109533597(+) GAGACC/GTGAGG 1 -- us2k10--------
    rs1407560981,2
    		--109533765(+) CTAAGA/CCTTTT 1 -- us2k10--------
    rs38479541,2
    		C,F,A,H,--109533775(-) TTGGTT/CTTCAA 1 -- us2k119Minor allele frequency- C:0.24NS EA NA WA CSA 2344
    rs2004924691,2
    		--109533821(+) TTTTC-/TTTTTT 1 -- us2k10--------
    rs1873643431,2
    		--109533944(+) CCTGAA/GTAGCT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for UNG (109535379 - 109548798 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for UNG
         1 CNV: 5312
    Human Gene Mutation Database (HGMD): UNG

    Locus Specific Mutation Databases (LSDB): UNG

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing UNG
    DNA2.0 Custom Variant and Variant Library Synthesis for UNG

    Disorders / Diseases
    for UNG gene

    (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.)
    About This Section
    UNG for disorders           About GeneDecksing

    OMIM gene information: 191525   
    OMIM disorders: 608106  
    UniProtKB/Swiss-Prot: UNG_HUMAN, P13051
  • Defects in UNG are a cause of immunodeficiency with hyper-IgM type 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

    20/34 diseases for UNG (see all 34):    About MalaCards
    immunodeficiency with hyper igm type 4    immunodeficiency with hyper igm    immunodeficiency with hyper igm type 5    graft versus host disease
    xeroderma pigmentosum    bloom syndrome    herpes simplex    congenital rubella
    rubella    neurodegenerative disease    kaposi's sarcoma    colon adenocarcinoma
    familial colorectal cancer    tauopathy    immunodeficiency    colorectal cancer
    acne    osteosarcoma    vaccinia    copd

    10/17 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: UNG (17 documents)

    Export disorders for UNG gene to outside databases

    Publications
    for UNG gene

    (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 UNG gene, integrated from 9 sources (see all 354):
    (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. (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. (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. (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. (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. (1995)
    6. 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. (1996)
    7. 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. (1996)
    8. Different organization of base excision repair of ura cil in DNA in nuclei and mitochondria and selective upregulation of mitochondri al uracil-DNA glycosylase after oxidative stress. (PubMed id 17101234)1, 3, 9 Akbari M....Krokan H.E. (2007)
    9. 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. (2005)
    10. Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. (PubMed id 12958596)1, 2, 9 Imai K....Durandy A. (2003)

    External Searches for UNG gene

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

    Genome Databases showing UNG gene

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

    Other Databases showing UNG gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing UNG gene

    (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 UNG Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for UNG Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UNG
    NIEHS-SNPshttp://egp.gs.washington.edu/data/ung/
    UNGbasehttp://bioinf.uta.fi/UNGbase/

    Intellectual Property
    for UNG gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



    Products
    for UNG gene

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    About This Section

     
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