Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7374
Gene name Gene Name - the full gene name approved by the HGNC.
Uracil DNA glycosylase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
UNG
Synonyms (NCBI Gene) Gene synonyms aliases
DGU, HIGM4, HIGM5, UDG, UNG1, UNG15, UNG2
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.11
Summary Summary of gene provided in NCBI Entrez 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)
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
191525 12572 ENSG00000076248
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hyper-IgM Syndrome hyper-igm syndrome type 5 rs772214871, rs104894380 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hyperimmunoglobulin M Syndrome hyperimmunoglobulin m syndrome N/A N/A ClinVar
Associations from Text Mining Disease 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