UNG Gene (Uracil DNA Glycosylase)
Key enzyme in base excision repair, critical for maintaining genomic integrity by removing uracil from DNA.
Gene Information Card
| Symbol | UNG |
|---|---|
| Full Name | Uracil DNA Glycosylase |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.11 |
| NCBI Gene ID | 7374 ncbi.nlm.nih.gov/gene/7374 |
| Ensembl ID | ENSG00000076248 |
| UniProt ID | P13051 |
| OMIM ID | 191525 |
| HGNC ID | 12576 |
| Aliases | DGU, UDG, UNG1, UNG2, UNG15 |
Description
The UNG gene encodes uracil DNA glycosylase, a key enzyme in the base excision repair (BER) pathway. It removes uracil from DNA, which can arise from spontaneous deamination of cytosine or misincorporation of dUMP. Two isoforms exist: UNG1 (mitochondrial) and UNG2 (nuclear). Loss of function leads to genomic instability and is associated with hyper-IgM syndrome type 5.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hyper-IgM syndrome type 5 (HIGM5) | Defective UNG impairs class switch recombination and somatic hypermutation, leading to elevated IgM and reduced IgG, IgA, IgE. | OMIM #608106 |
| Colorectal cancer | UNG deficiency increases uracil accumulation in DNA, promoting mutations and genomic instability. | COSMIC; ClinVar |
| Breast cancer | Altered UNG expression linked to DNA repair defects and tumor progression. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.6 | High |
| Spleen | 18.2 | Medium |
| Lymph node | 15.4 | Medium |
| Bone marrow | 12.1 | Medium |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.5 | Cervical cancer cell line |
| K562 | 18.9 | Leukemia cell line |
| HepG2 | 15.3 | Liver cancer cell line |
| A549 | 12.7 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.763C>T (p.Arg255*) | Nonsense | Rare | Loss of function; associated with HIGM5 |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production; severe immunodeficiency |
| c.644G>A (p.Arg215Gln) | Missense | <0.01% | Reduced catalytic activity; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations abolish UNG activity, leading to uracil accumulation and immunodeficiency.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • uracil DNA N-glycosylase activity | • base-excision repair |
| • DNA repair | • mitochondrion |
| • nucleus | • damaged DNA binding |
Pathways
• Base excision repair (BER)
• DNA repair
• Class switch recombination
• Somatic hypermutation of immunoglobulin genes
Protein Summary
Uracil DNA glycosylase (UNG) is a 313-amino acid protein (isoform 2) that excises uracil from DNA. It contains a conserved catalytic domain and a nuclear localization signal. UNG is essential for preventing mutagenesis from cytosine deamination and dUMP misincorporation. It interacts with replication protein A and PCNA to coordinate repair.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UNG Knockout HEK293 Cell Line | EDJ-KQ5272 | Human | 7374 | Details Get a Quote |
| UNG Knockout A-549 Cell Line | EDJ-KQ29597 | Human | 7374 | Details Get a Quote |
| UNG Knockout HCT 116 Cell Line | EDJ-KQ29599 | Human | 7374 | Details Get a Quote |
| UNG Knockout HeLa Cell Line | EDJ-KQ29600 | Human | 7374 | Details Get a Quote |
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