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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Colorectal cancer Likely pathogenic rs748974541 RCV005931405
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (11 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BLOOM SYNDROME CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DYSGAMMAGLOBULINEMIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 3474482
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 3474482
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 3474482
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia Pubtator 19903677 Associate
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 23202958, 23714858
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 31415677 Associate
★☆☆☆☆
Found in Text Mining only
Blast Phase Blast phase chronic myelogenous leukemia BEFREE 3474482
★☆☆☆☆
Found in Text Mining only
Bloom Syndrome Bloom Syndrome BEFREE 1742335, 2106500, 2155388, 3353381, 3948317
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bloom Syndrome Bloom syndrome Pubtator 1924305, 3353381 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bloom Syndrome Bloom Syndrome CTD_human_DG 2106500
★★☆☆☆
Found in Text Mining + Unknown/Other Associations