UNG uracil DNA glycosylase
Gene ID: 7374, updated on 11-Apr-2024Gene type: protein coding
Also known as: DGU; UDG; UNG1; UNG2; HIGM4; HIGM5; UNG15
- See all available tests in GTR for this gene
- Go to complete Gene record for UNG
- Go to Variation Viewer for UNG variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Hyper-IgM syndrome type 5 | See labs |
Genomic context
- Location:
- 12q24.11
- Sequence:
- Chromosome: 12; NC_000012.12 (109097597..109110992)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for UNG variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- UNG database
- UNGbase: Mutation registry for UNG deficiency (Hyper-IgM syndrome, type 5)
- Variation ViewerRelated Variants
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