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Aliases for UNG Gene

Aliases for UNG Gene

  • Uracil DNA Glycosylase 2 3 5
  • UNG15 3 4
  • UNG1 3 4
  • DGU 3 4
  • UDG 3 4
  • Uracil-DNA Glycosylase 1, Uracil-DNA Glycosylase 2 3
  • Uracil-DNA Glycosylase 1 2
  • Uracil-DNA Glycosylase 2 2
  • EC 3.2.2.27 4
  • EC 3.2.2 63
  • 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 Ciliary Dyskinesia, Primary, 29. Among its related pathways are Chks in Checkpoint Regulation and DNA Double-Strand Break Repair. 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

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around UNG on UCSC Golden Path with GeneCards custom track

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

Proteomics data for UNG Gene at MOPED

Selected DME Specific Peptides for UNG Gene

Post-translational modifications for UNG Gene

  • Isoform 1 is processed by cleavage of a transit peptide.
  • Ubiquitination at Lys 5 and Lys 78
  • Modification sites at PhosphoSitePlus

Other Protein References for UNG Gene

Antibody Products

Domains & Families for UNG Gene

Gene Families for UNG Gene

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 family.
Family:
  • Belongs to the uracil-DNA glycosylase 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

Gene Ontology (GO) - Molecular Function for UNG Gene

GO ID Qualified GO term Evidence PubMed IDs
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

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
Jensen Localization Image for UNG Gene COMPARTMENTS Subcellular localization image for UNG gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for UNG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
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 IEA,TAS 1923798
GO:0006284 base-excision repair IEA,TAS 10805771
GO:0043066 negative regulation of apoptotic process IEA --
GO:0045008 depyrimidination TAS --
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:

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 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, MOPED, and MaxQB for UNG Gene



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.
genes like me logo Genes that share expression patterns with UNG: view

Protein tissue co-expression partners for UNG Gene

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
cow
(Bos Taurus)
Mammalia UNG 35
  • 86.86 (n)
  • 94.05 (a)
UNG 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UNG 35
  • 88.72 (n)
  • 94.42 (a)
UNG 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ung 35
  • 83.66 (n)
  • 86.93 (a)
Ung 16
Ung 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UNG 35
  • 99.57 (n)
  • 100 (a)
UNG 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ung 35
  • 85.07 (n)
  • 91.89 (a)
oppossum
(Monodelphis domestica)
Mammalia UNG 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UNG 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves UNG 35
  • 73.58 (n)
  • 75.59 (a)
-- 36
  • 46 (a)
OneToMany
UNG 36
  • 76 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.7397 35
ung 35
  • 68.88 (n)
  • 73.75 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6649 35
zebrafish
(Danio rerio)
Actinopterygii unga 35
  • 69.07 (n)
  • 71.82 (a)
zgc56102 35
unga 36
  • 70 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y56A3A.29a 37
  • 54 (a)
ung-1 35
  • 54.59 (n)
  • 55.5 (a)
ung-1 36
  • 44 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER327C 35
  • 53.55 (n)
  • 54.98 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B01265g 35
  • 55.82 (n)
  • 56.13 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UNG1 35
  • 52.56 (n)
  • 55.35 (a)
UNG1 36
  • 36 (a)
OneToOne
UNG1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons UNG 35
  • 55.35 (n)
  • 55.81 (a)
rice
(Oryza sativa)
Liliopsida Os04g0673400 35
  • 57.22 (n)
  • 56.7 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1651 35
bread mold
(Neurospora crassa)
Ascomycetes NCU07482 35
  • 52.4 (n)
  • 49.3 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ung1 35
  • 53.12 (n)
  • 51.87 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToMany
CSA.8269 36
  • 47 (a)
OneToMany
Species with no ortholog for UNG:
  • 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
VAR_017094 Immunodeficiency with hyper-IgM 5 (HIGM5)
rs7488798 - 109,097,690(+) CGGCC(A/G)GAAGA upstream-variant-2KB, reference, missense
rs246078 -- 109,105,909(+) GGTAG(A/G)GGGGT intron-variant
rs12816460 -- 109,104,775(+) AAATT(A/T)TAGAG intron-variant
rs12817483 -- 109,104,630(+) ctttc(C/T)ccagg intron-variant

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

Variant ID Type Subtype PubMed ID
esv2422361 CNV Duplication 17116639
nsv526106 CNV Loss 19592680
esv1652073 CNV Insertion 17803354

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

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

Disorders for UNG Gene

MalaCards: The human disease database

(9) MalaCards diseases for UNG Gene - From: 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
ciliary dyskinesia, primary, 29
  • primary ciliary dyskinesia without situs inversus
congenital rubella
  • craniosynostosis
immunodeficiency, x-linked, with hyper-igm
  • immunodeficiency with hyper igm type 1
gastric diffuse adenocarcinoma
  • adenocarcinoma of linitis plastica type
- 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}. 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. Cell cycle regulation and in vitro hybrid arrest analysis of the major human uracil-DNA glycosylase. (PMID: 1923798) Slupphaug G. … Krokan H.E. (Nucleic Acids Res. 1991) 2 3 23 67
  2. 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 H.E. (Neuroscience 2007) 2 3 23
  3. Analysis of somatic hypermutation in X-linked hyper-IgM syndrome shows specific deficiencies in mutational targeting. (PMID: 19023113) Longo N.S. … Lipsky P.E. (Blood 2009) 3 23
  4. Small interfering RNA-directed knockdown of uracil DNA glycosylase induces apoptosis and sensitizes human prostate cancer cells to genotoxic stress. (PMID: 19671688) Pulukuri S.M. … Rao J.S. (Mol. Cancer Res. 2009) 3 23
  5. Requirement of non-canonical activity of uracil DNA glycosylase for class switch recombination. (PMID: 17090531) Begum N.A. … Honjo T. (J. Biol. Chem. 2007) 3 23

Products for UNG Gene

Sources for UNG Gene

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