UNG Chromosome 12
Uracil DNA glycosylase
Upload your DNA to see your personal genotypes for variants in UNG.
What This Gene Does
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]
Gene Info
Gene Group
DNA glycosylases
Locus Type
gene with protein product
Location
12q24.11
Ensembl
ENSG00000076248
Associated Conditions (3)
Hyper-IgM syndrome type 5
UNG-related disorder
Colorectal cancer
Key Variants
RS144083363
Conflicting classifications of pathogenicity
Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
Health Risk
RS147490205
Conflicting classifications of pathogenicity
Hyper-IgM syndrome type 5, UNG-related disorder, Hyper-IgM syndrome type 5
Health Risk
RS151095402
Conflicting classifications of pathogenicity
Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
Health Risk
RS199956941
Conflicting classifications of pathogenicity
Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
Health Risk
RS55812333
Conflicting classifications of pathogenicity
Hyper-IgM syndrome type 5, UNG-related disorder, Hyper-IgM syndrome type 5
Health Risk
RS572632781
Conflicting classifications of pathogenicity
Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
Health Risk
RS761928219
Conflicting classifications of pathogenicity
Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
Health Risk
RS765151419
Conflicting classifications of pathogenicity
Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
Health Risk
RS765672149
Conflicting classifications of pathogenicity
Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
Health Risk
RS772832695
Conflicting classifications of pathogenicity
Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
Health Risk
RS777436497
Conflicting classifications of pathogenicity
Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
Health Risk
RS1555264685
Likely pathogenic
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144083363 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5 |
| RS147490205 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 5, UNG-related disorder, Hyper-IgM syndrome type 5 |
| RS151095402 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5 |
| RS199956941 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5 |
| RS55812333 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 5, UNG-related disorder, Hyper-IgM syndrome type 5 |
| RS572632781 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5 |
| RS761928219 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5 |
| RS765151419 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5 |
| RS765672149 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5 |
| RS772832695 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5 |
| RS777436497 | Health Risk | Conflicting classifications of pathogenicity | Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5 |
| RS1555264685 | Health Risk | Likely pathogenic | — |
| RS2042193330 | Health Risk | Likely pathogenic | Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5 |
| RS746878731 | Health Risk | Likely pathogenic | Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5 |
| RS748974541 | Health Risk | Likely pathogenic | Hyper-IgM syndrome type 5, Colorectal cancer, Hyper-IgM syndrome type 5 |
| RS104894380 | Health Risk | Pathogenic | Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5 |
| RS1302020618 | Health Risk | Pathogenic | Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5 |
| RS1426188025 | Health Risk | Pathogenic | Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5 |
| RS2135882474 | Health Risk | Pathogenic | Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5 |
| RS2499976292 | Health Risk | Pathogenic | Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5 |
| RS2499977965 | Health Risk | Pathogenic | Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5 |
| RS2499982456 | Health Risk | Pathogenic | Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5 |
| RS751126274 | Health Risk | Pathogenic | Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5 |
| RS757311287 | Health Risk | Pathogenic | Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5 |
| RS759483250 | Health Risk | Pathogenic | Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5 |
| RS772214871 | Health Risk | Pathogenic | Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5 |
| RS772764942 | Health Risk | Pathogenic | Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5 |
| RS778896112 | Health Risk | Pathogenic | Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5 |