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 sp... See more...

Aliases for UNG Gene

Aliases for UNG Gene

  • Uracil DNA Glycosylase 2 3 5
  • Uracil-DNA Glycosylase 1, Uracil-DNA Glycosylase 2 2 3
  • Uracil-DNA Glycosylase 3 4
  • UNG15 3 4
  • UNG1 3 4
  • DGU 3 4
  • UDG 3 4
  • EC 3.2.2.27 4
  • EC 3.2.2 52
  • HIGM4 3
  • HIGM5 3
  • UNG2 3

External Ids for UNG Gene

Previous HGNC Symbols for UNG Gene

  • DGU

Previous GeneCards Identifiers for UNG Gene

  • GC12P108593
  • GC12P109374
  • GC12P107998
  • GC12P109535
  • GC12P106553

Summaries for UNG Gene

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 Immunodeficiency With Hyper-Igm, Type 4. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis and Cleavage of the damaged pyrimidine. Gene Ontology (GO) annotations related to this gene include uracil DNA N-glycosylase activity.

UniProtKB/Swiss-Prot Summary for UNG Gene

  • 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 Gene

Additional gene information for UNG Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UNG Gene

Genomics for UNG Gene

GeneHancer (GH) Regulatory Elements for UNG Gene

Promoters and enhancers for UNG Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J109096 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 507.6 +1.1 1116 3.4 HNRNPK FOXK2 SIN3A MYC NRF1 POLR2G USF1 SP1 NCOR1 PHF8 UNG ALKBH2 WSCD2 ACACB UBE3B SART3 MYO1H lnc-ACACB-2
GH12J109130 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.5 +34.3 34301 3.5 ZIC2 RBM25 POLR2A CHD2 ZFHX2 ZFP91 SCRT1 RAD21 RXRA GLIS1 ACACB LOC105369974 lnc-ALKBH2-3 ALKBH2 UNG MYO1H TRPV4 piR-55937
GH12J109109 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 6.9 +16.9 16861 10.1 FOXK2 ZBTB40 CTCF TCF12 POLR2G NCOR1 GTF2E2 KDM6A RFX1 TOE1 ACACB MYO1H ALKBH2 UNG DAO ENSG00000256139 lnc-ALKBH2-3 LOC105369974
GH12J108950 Enhancer 1 Ensembl ENCODE 10.6 -148.3 -148273 4.6 CTCF USF1 ZNF639 CLOCK REST CUX1 MYC CTBP1 RAD21 TRIM22 RNU6-361P SSH1 ALKBH2 UNG SELPLG TMEM119 FICD LINC01498 SVOP lnc-SSH1-3
GH12J109191 Enhancer 0.8 Ensembl ENCODE 10.6 +95.8 95808 3.8 TCF12 FOXA2 CEBPB FOS CEBPG FOSL2 RCOR1 ATF3 NR3C1 PRDM10 ALKBH2 ACACB ENSG00000255655 UNG TRPV4 piR-55937 LOC105369974
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UNG on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UNG

Top Transcription factor binding sites by QIAGEN in the UNG gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • p53

Genomic Locations for UNG Gene

Genomic Locations for UNG Gene
chr12:109,097,574-109,110,993
(GRCh38/hg38)
Size:
13,420 bases
Orientation:
Plus strand
chr12:109,535,379-109,548,798
(GRCh37/hg19)
Size:
13,420 bases
Orientation:
Plus strand

Genomic View for UNG Gene

Genes around UNG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UNG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UNG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UNG Gene

Proteins for UNG Gene

  • Protein details for UNG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13051-UNG_HUMAN
    Recommended name:
    Uracil-DNA glycosylase
    Protein Accession:
    P13051
    Secondary Accessions:
    • A8K5M6
    • B2R8Y1
    • O00637
    • O00719
    • Q93028

    Protein attributes for UNG Gene

    Size:
    313 amino acids
    Molecular mass:
    34645 Da
    Quaternary structure:
    • Monomer. Interacts with FAM72A.
    • (Microbial infection) Interacts with HIV-1 Vpr.

    Three dimensional structures from OCA and Proteopedia for UNG Gene

    Alternative splice isoforms for UNG Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UNG Gene

Selected DME Specific Peptides for UNG Gene

P13051:
  • QGVLLLN
  • LGQDPYH
  • ILGQDPY
  • HGLCFSV
  • LLNAVLTV
  • LVFLLWG
  • GQDPYHG

Post-translational modifications for UNG Gene

  • Isoform 1 is processed by cleavage of a transit peptide.
  • Ubiquitination at Lys5 and Lys78
  • Modification sites at PhosphoSitePlus

Other Protein References for UNG Gene

Domains & Families for UNG Gene

Gene Families for UNG Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for UNG Gene

Blocks:
  • Uracil-DNA glycosylase superfamily
  • Uracil-DNA glycosylase, not poxvirus
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UNG Gene

GenScript: Design optimal peptide antigens:
  • Uracil-DNA glycosylase (B4DRT6_HUMAN)
  • Uracil-DNA glycosylase (F5GYA2_HUMAN)
  • Uracil-DNA glycosylase (Q6FHS8_HUMAN)
  • Uracil-DNA glycosylase (UNG_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P13051

UniProtKB/Swiss-Prot:

UNG_HUMAN :
  • Belongs to the uracil-DNA glycosylase (UDG) superfamily. UNG family.
Family:
  • Belongs to the uracil-DNA glycosylase (UDG) superfamily. UNG family.
genes like me logo Genes that share domains with UNG: view

Function for UNG Gene

Molecular function for UNG Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Hydrolyzes single-stranded DNA or mismatched double-stranded DNA and polynucleotides, releasing free uracil.; EC=3.2.2.27; Evidence=. ;.
GENATLAS Biochemistry:
DNA glycosylase,uracil,nuclear form (UNG2),and mitochondrial form (UNG1),base excision repair

Enzyme Numbers (IUBMB) for UNG Gene

Phenotypes From GWAS Catalog for UNG Gene

Gene Ontology (GO) - Molecular Function for UNG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003684 damaged DNA binding IDA 18973764
GO:0004844 uracil DNA N-glycosylase activity IEA,TAS --
GO:0005515 protein binding IPI 10982866
GO:0016787 hydrolase activity IEA --
GO:0016799 hydrolase activity, hydrolyzing N-glycosyl compounds IEA --
genes like me logo Genes that share ontologies with UNG: view
genes like me logo Genes that share phenotypes with UNG: view

Human Phenotype Ontology for UNG Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for UNG Gene

MGI Knock Outs for UNG:
  • Ung Ung<tm1Tld>
  • Ung Ung<tm1Mend>

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for UNG

No data available for Transcription Factor Targets and HOMER Transcription for UNG Gene

Localization for UNG Gene

Subcellular locations from UniProtKB/Swiss-Prot for UNG Gene

[Isoform 1]: Mitochondrion.
[Isoform 2]: Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UNG gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for UNG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS,IBA 9016624
GO:0005654 nucleoplasm TAS --
GO:0005739 mitochondrion IBA 21873635
genes like me logo Genes that share ontologies with UNG: view

Pathways & Interactions for UNG Gene

genes like me logo Genes that share pathways with UNG: view

Pathways by source for UNG Gene

Gene Ontology (GO) - Biological Process for UNG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA,TAS 1923798
GO:0006284 base-excision repair TAS,IEA 10805771
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0016032 viral process IEA --
GO:0016446 somatic hypermutation of immunoglobulin genes IEA --
genes like me logo Genes that share ontologies with UNG: view

No data available for SIGNOR curated interactions for UNG Gene

Drugs & Compounds for UNG Gene

(22) Drugs for UNG Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
1-(2-DEOXY-5-O-PHOSPHONO-BETA-D-ERYTHRO-PENTOFURANOSYL)-4-METHYL-1H-INDOLE Experimental Pharma Target 0
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 Experimental Pharma Target 0
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 Experimental Pharma Target 0
Uracil Experimental, Investigational Pharma Target 0

(34) Additional Compounds for UNG Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with UNG: view

Transcripts for UNG Gene

mRNA/cDNA for UNG Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for UNG

Alternative Splicing Database (ASD) splice patterns (SP) for UNG Gene

No ASD Table

Relevant External Links for UNG Gene

GeneLoc Exon Structure for
UNG

Expression for UNG Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UNG Gene

Protein differential expression in normal tissues from HIPED for UNG Gene

This gene is overexpressed in Heart (40.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UNG Gene



Protein tissue co-expression partners for UNG Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UNG

SOURCE GeneReport for Unigene cluster for UNG Gene:

Hs.191334

mRNA Expression by UniProt/SwissProt for UNG Gene:

P13051-UNG_HUMAN
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.

Evidence on tissue expression from TISSUES for UNG Gene

  • Nervous system(4.4)
  • Intestine(2.7)
  • Blood(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for UNG Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • immune
  • lymphatic
  • reproductive
  • respiratory
Regions:
Thorax:
  • lung
Pelvis:
  • testicle
General:
  • blood
  • bone marrow
  • lymph node
  • white blood cell
genes like me logo Genes that share expression patterns with UNG: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for UNG Gene

Orthologs for UNG Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UNG Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UNG 31 30
  • 99.57 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UNG 31
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UNG 31 30
  • 88.72 (n)
OneToOne
cow
(Bos Taurus)
Mammalia UNG 31 30
  • 86.86 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ung 30
  • 85.07 (n)
mouse
(Mus musculus)
Mammalia Ung 17 31 30
  • 83.66 (n)
oppossum
(Monodelphis domestica)
Mammalia UNG 31
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves UNG 31 30
  • 73.58 (n)
OneToMany
-- 31
  • 46 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ung 30
  • 68.88 (n)
Str.7397 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.6649 30
zebrafish
(Danio rerio)
Actinopterygii unga 31 30
  • 69.07 (n)
OneToOne
zgc56102 30
worm
(Caenorhabditis elegans)
Secernentea ung-1 31 30
  • 54.59 (n)
OneToOne
Y56A3A.29a 32
  • 54 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B01265g 30
  • 55.82 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER327C 30
  • 53.55 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UNG1 33 31 30
  • 52.56 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons UNG 30
  • 55.35 (n)
rice
(Oryza sativa)
Liliopsida Os04g0673400 30
  • 57.22 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ung1 30
  • 53.12 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07482 30
  • 52.4 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8269 31
  • 47 (a)
OneToMany
-- 31
  • 45 (a)
OneToMany
Cin.1651 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1651 30
Species where no ortholog for UNG was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UNG Gene

ENSEMBL:
Gene Tree for UNG (if available)
TreeFam:
Gene Tree for UNG (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UNG: view image

Paralogs for UNG Gene

(1) SIMAP similar genes for UNG Gene using alignment to 3 proteins:

  • UNG_HUMAN
  • F5GYA2_HUMAN
  • Q6FHS8_HUMAN

Pseudogenes.org Pseudogenes for UNG Gene

genes like me logo Genes that share paralogs with UNG: view

No data available for Paralogs for UNG Gene

Variants for UNG Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UNG Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
573856 Uncertain Significance: Immunodeficiency with hyper IgM type 5 109,103,461(+) G/A SYNONYMOUS_VARIANT
578381 Pathogenic: Immunodeficiency with hyper IgM type 5 109,103,495(+) C/T NONSENSE
581300 Uncertain Significance: Immunodeficiency with hyper IgM type 5 109,099,241(+) C/T MISSENSE_VARIANT
639461 Uncertain Significance: Immunodeficiency with hyper IgM type 5 109,109,823(+) T/C INTRON_VARIANT
643750 Uncertain Significance: Immunodeficiency with hyper IgM type 5 109,097,740(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for UNG Gene

Structural Variations from Database of Genomic Variants (DGV) for UNG Gene

Variant ID Type Subtype PubMed ID
dgv1553n100 CNV gain 25217958
dgv1554n100 CNV gain 25217958
esv1652073 CNV insertion 17803354
esv2422361 CNV duplication 17116639
esv3630714 CNV loss 21293372
nsv526106 CNV loss 19592680

Variation tolerance for UNG Gene

Residual Variation Intolerance Score: 59.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.21; 24.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UNG Gene

Human Gene Mutation Database (HGMD)
UNG
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UNG

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UNG Gene

Disorders for UNG Gene

MalaCards: The human disease database

(15) MalaCards diseases for UNG Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search UNG in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

UNG_HUMAN
  • 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. {ECO:0000269 PubMed:12958596, ECO:0000269 PubMed:15967827}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for UNG

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with UNG: view

No data available for Genatlas for UNG Gene

Publications for UNG Gene

  1. 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. (PMID: 17101234) Akbari M … Krokan HE (Neuroscience 2007) 2 3 23 54
  2. B cells from hyper-IgM patients carrying UNG mutations lack ability to remove uracil from ssDNA and have elevated genomic uracil. (PMID: 15967827) Kavli B … Slupphaug G (The Journal of experimental medicine 2005) 3 4 23 54
  3. Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. (PMID: 12958596) Imai K … Durandy A (Nature immunology 2003) 3 4 23 54
  4. Base excision repair initiation revealed by crystal structures and binding kinetics of human uracil-DNA glycosylase with DNA. (PMID: 9724657) Parikh SS … Tainer JA (The EMBO journal 1998) 3 4 23 54
  5. Nuclear and mitochondrial splice forms of human uracil-DNA glycosylase contain a complex nuclear localisation signal and a strong classical mitochondrial localisation signal, respectively. (PMID: 9753728) Otterlei M … Krokan HE (Nucleic acids research 1998) 3 4 23 54

Products for UNG Gene

Sources for UNG Gene