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Aliases for UNG Gene

Aliases for UNG Gene

  • Uracil DNA Glycosylase 2 3 5
  • Uracil-DNA Glycosylase 1, Uracil-DNA Glycosylase 2 2 3
  • UNG15 3 4
  • UNG1 3 4
  • DGU 3 4
  • UDG 3 4
  • Uracil-DNA Glycosylase 3
  • EC 3.2.2.27 4
  • EC 3.2.2 58
  • 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 Recognition and association of DNA glycosylase with site containing an affected pyrimidine. GO annotations related to this gene include uracil DNA N-glycosylase activity.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for UNG Gene

Genomics for UNG Gene

Regulatory Elements for UNG Gene

Enhancers for UNG Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H109130 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.5 +34.3 34273 3 TAF1 ZMYM3 MAX ZIC2 RAD21 YY1 ZFHX2 GLIS2 POLR2A SCRT2 ALKBH2 ACACB UNG MYO1H TRPV4 LOC105369974 ENSG00000256139
GH12H109109 1.9 FANTOM5 Ensembl ENCODE dbSUPER 6.9 +16.0 16036 8 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 ACACB UBE3B MYO1H ALKBH2 UNG DAO ENSG00000256139 LOC105369974
GH12H109096 1.3 ENCODE dbSUPER 7.7 +1.1 1114 3 PKNOX1 ATF1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 GLI4 ZNF2 ZBTB7B WSCD2 ACACB MYO1H UNG GC12M109089
GH12H109126 0.7 ENCODE dbSUPER 11.5 +29.4 29377 0 ZNF664 HNF4A RAD21 ALKBH2 UNG MYO1H TRPV4 ACACB LOC105369974 ENSG00000256139
GH12H108301 1.7 FANTOM5 Ensembl ENCODE dbSUPER 4.3 -791.9 -791948 7 ELF3 RAD21 EGR1 FOS RCOR1 RUNX3 EGR2 ELF1 NR2F2 ZNF217 CMKLR1 SART3 LINC01498 FICD ENSG00000257398 BTBD11 UNG CORO1C SELPLG GC12M108289
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UNG on UCSC Golden Path with GeneCards custom track

Promoters for UNG Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000057139 626 2001 PKNOX1 ATF1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 GLI4 ZNF2 ZBTB7B

Genomic Location for UNG Gene

Chromosome:
12
Start:
109,097,574 bp from pter
End:
109,110,993 bp from pter
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. 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 posLast=7878
  • 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

Suggested Antigen Peptide Sequences for UNG Gene

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

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

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 TAS,IEA --
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for UNG
  • Applied Biological Materials Clones for UNG
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

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 9016624
GO:0005654 nucleoplasm TAS --
GO:0005739 NOT mitochondrion IEA,IBA --
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

Gene Ontology (GO) - Biological Process for UNG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair TAS,IEA 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

(19) 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

(36) 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

Unigene Clusters for UNG Gene

Uracil-DNA glycosylase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for UNG
  • Applied Biological Materials Clones for UNG
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for UNG Gene

GeneLoc Exon Structure for
UNG
ECgene alternative splicing isoforms for
UNG

Expression for UNG Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for UNG Gene



Protein tissue co-expression partners for UNG Gene

NURSA nuclear receptor signaling pathways regulating expression of UNG Gene:

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
Organs:
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

Primer Products

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 33 34
  • 99.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia UNG 34
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UNG 33 34
  • 88.72 (n)
cow
(Bos Taurus)
Mammalia UNG 33 34
  • 86.86 (n)
rat
(Rattus norvegicus)
Mammalia Ung 33
  • 85.07 (n)
mouse
(Mus musculus)
Mammalia Ung 33 16 34
  • 83.66 (n)
oppossum
(Monodelphis domestica)
Mammalia UNG 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves UNG 33 34
  • 73.58 (n)
-- 34
  • 46 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ung 33
  • 68.88 (n)
Str.7397 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.6649 33
zebrafish
(Danio rerio)
Actinopterygii unga 33 34
  • 69.07 (n)
zgc56102 33
worm
(Caenorhabditis elegans)
Secernentea ung-1 33 34
  • 54.59 (n)
Y56A3A.29a 35
  • 54 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B01265g 33
  • 55.82 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER327C 33
  • 53.55 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UNG1 33 34 36
  • 52.56 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons UNG 33
  • 55.35 (n)
rice
(Oryza sativa)
Liliopsida Os04g0673400 33
  • 57.22 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ung1 33
  • 53.12 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07482 33
  • 52.4 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8269 34
  • 47 (a)
OneToMany
-- 34
  • 45 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1651 33
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)

Paralogs for UNG Gene

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

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 from dbSNP and Humsavar for UNG Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs104894380 Pathogenic, Immunodeficiency with hyper-IgM 5 (HIGM5) [MIM:608106] 109,103,562(+) TGTTT(C/T)CTTGC reference, missense
rs144083363 Likely benign 109,098,545(+) GCCCT(A/C/G)CTCAG reference, synonymous-codon
rs193922715 Likely benign 109,103,542(+) AATCA(A/G)AACTC reference, synonymous-codon
rs3219275 Likely benign 109,110,982(+) AAGTT(A/T)GTTAA upstream-variant-2KB, utr-variant-3-prime
rs56185014 Likely benign 109,110,850(+) TATAT(-/AT)TTTTC upstream-variant-2KB, utr-variant-3-prime

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)

Relevant External Links for UNG Gene

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

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

Disorders for UNG Gene

MalaCards: The human disease database

(6) MalaCards diseases for UNG Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency with hyper igm, type 5
  • immunodeficiency with hyper igm type 5
immunodeficiency with hyper-igm, type 4
  • immunodeficiency with hyper-igm type 4
congenital rubella
  • congenital rubella syndrome
immunodeficiency, x-linked, with hyper-igm
  • immunodeficiency with hyper igm type 1
immunodeficiency with hyper-igm, type 2
  • immunodeficiency with hyper-igm type 2
- 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.

Relevant External Links for UNG

Genetic Association Database (GAD)
UNG
Human Genome Epidemiology (HuGE) Navigator
UNG
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UNG
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 22 60
  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 22 60
  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 22 60
  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 22 60
  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 22 60

Products for UNG Gene

  • Addgene plasmids for UNG

Sources for UNG Gene

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