Gene Gene information from NCBI Gene database.
Entrez ID 7374
Gene name Uracil DNA glycosylase
Gene symbol UNG
Synonyms (NCBI Gene)
DGUHIGM4HIGM5UDGUNG1UNG15UNG2
Chromosome 12
Chromosome location 12q24.11
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)
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs104894380 T>C Pathogenic Coding sequence variant, missense variant
rs772214871 C>T Pathogenic Coding sequence variant, stop gained
rs1555264685 C>- Likely-pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
420
miRTarBase ID miRNA Experiments Reference
MIRT007301 hsa-miR-16-5p Luciferase reporter assay 23228472
MIRT007302 hsa-miR-34c-5p Luciferase reporter assay 23228472
MIRT007303 hsa-miR-199a-5p Luciferase reporter assay 23228472
MIRT024454 hsa-miR-215-5p Microarray 19074876
MIRT026620 hsa-miR-192-5p Microarray 19074876
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0000012 Process Single strand break repair TAS 31981739
GO:0003684 Function Damaged DNA binding IDA 18973764
GO:0004844 Function Uracil DNA N-glycosylase activity IBA
GO:0004844 Function Uracil DNA N-glycosylase activity IDA 1923798, 12161446
GO:0004844 Function Uracil DNA N-glycosylase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
191525 12572 ENSG00000076248
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P13051
Protein name Uracil-DNA glycosylase (UDG) (EC 3.2.2.27)
Protein function Uracil-DNA glycosylase that hydrolyzes the N-glycosidic bond between uracil and deoxyribose in single- and double-stranded DNA (ssDNA and dsDNA) to release a free uracil residue and form an abasic (apurinic/apyrimidinic; AP) site. Excises uracil
PDB 1AKZ , 1DPU , 1EMH , 1EMJ , 1Q3F , 1SSP , 1UGH , 1YUO , 2HXM , 2OXM , 2OYT , 2SSP , 3FCF , 3FCI , 3FCK , 3FCL , 3TKB , 4SKN , 5AYR , 5JK7 , 6VBA , 7V7C
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03167 UDG 140 302 Uracil DNA glycosylase superfamily Domain
Sequence
MIGQKTLYSFFSPSPARKRHAPSPEPAVQGTGVAGVPEESGDAAAIPAKKAPAGQEEPGT
PPSSPLSAEQLDRIQRNKAAALLRLAARNVPVGFGESWKKHLSGEFGKPYFIKLMGFVAE
ERKHYTVYPPPHQVFTWTQMCDIKDVKVVILGQDPYHGPNQAHGLCFSVQRPVPPPPSLE
NIYKELSTDIEDFVHPGHGDLSGWAKQGVLLLNAVLTVRAHQANSHKERGWEQFTDAVVS
WLNQNSNGLVFLLWGSYAQKKGSAIDRKRHHVLQTAHPSPLSVYRGFFGCRHFSKTNELL
QK
SGKKPIDWKEL
Sequence length 313
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Base excision repair
Primary immunodeficiency
  Recognition and association of DNA glycosylase with site containing an affected pyrimidine
Cleavage of the damaged pyrimidine
Displacement of DNA glycosylase by APEX1
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
256
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colorectal cancer Likely pathogenic rs748974541 RCV005931405
Hyper-IgM syndrome type 5 Pathogenic; Likely pathogenic rs2135882474, rs751126274, rs772764942, rs757311287, rs2042193330, rs1302020618, rs2499977965, rs759483250, rs2499976292, rs778896112, rs2499982456, rs104894380, rs1426188025, rs748974541, rs746878731
View all (1 more)
RCV001374665
RCV001387995
RCV003513623
RCV001994580
RCV002040511
RCV002251153
RCV002927038
RCV002974821
RCV003002484
RCV000013084
RCV000013085
RCV000013086
RCV000013087
RCV003513396
RCV003624665
RCV000701366
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gastric cancer Uncertain significance rs762578814 RCV005924214
Hepatocellular carcinoma Likely benign rs141783420 RCV005901690
Hereditary breast ovarian cancer syndrome Uncertain significance rs2135882458 RCV001374544
Hyperimmunoglobulin M syndrome Likely benign; Uncertain significance rs200602841, rs56185014, rs780337127 RCV001844117
RCV001844119
RCV001844116
RCV001844118
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Agammaglobulinemia Associate 19903677
Alzheimer Disease Associate 31415677
Bloom Syndrome Associate 1924305, 3353381
Breast Neoplasms Associate 33675849
Colorectal Neoplasms Associate 17029639, 23873851, 33675849, 33795350
Coronary Artery Disease Associate 28120895
COVID 19 Associate 35472524
Cystic Fibrosis Associate 7683477
Drug Hypersensitivity Associate 23873851
Drug Related Side Effects and Adverse Reactions Associate 27517750