full name
uracil DNA glycosylase

synonyms
DGU, HIGM4, HIGM5, UDG, UNG1, UNG15, UNG2, UNG, ENSG00000076248

HGNC
HGNC:12572

Entrez Gene
Gene:7374

ENSEMBL
ENSG00000076248

location
chr: 12
start: 109535399
stop: 109548798
strand: +

OMIM
OMIM:191525: UNG (Autosomal recessive inheritance)
OMIM:608106: Immunodeficiency with hyper IgM, type 5

transcripts
NM_080911.2
NM_003362.3

pathways
Base Excision Repair [NCBI:1270351] [REACTOME:R-HSA-73884] [PUBMED:11937636] [PUBMED:10583946]
Base excision repair [NCBI:83043] [KEGG:hsa03410] [PUBMED:17893748] [PUBMED:11436317] [PUBMED:17337257] [PUBMED:21665970]
Base-Excision Repair, AP Site Formation [NCBI:1270352] [REACTOME:R-HSA-73929] [PUBMED:10583946] [PUBMED:11937636]
Cleavage of the damaged pyrimidine [NCBI:1270358] [REACTOME:R-HSA-110329] [PUBMED:10583946]
DNA Repair [NCBI:1270350] [REACTOME:R-HSA-73894] [PUBMED:10583946] [PUBMED:23175119]
Depyrimidination [NCBI:1270356] [REACTOME:R-HSA-73928] [PUBMED:10583946]
Displacement of DNA glycosylase by APEX1 [NCBI:1270360] [REACTOME:R-HSA-110357] [PUBMED:9724657]
Primary immunodeficiency [NCBI:83125] [KEGG:hsa05340] [PUBMED:11941303] [PUBMED:18093537] [PUBMED:11058677] [PUBMED:17952897] [PUBMED:14699405] [PUBMED:15661024] [PUBMED:14647478] [PUBMED:17960151] [PUBMED:16261175]
Recognition and association of DNA glycosylase with site containing an affected pyrimidine [NCBI:1270357] [REACTOME:R-HSA-110328] [PUBMED:11937636]
Resolution of Abasic Sites (AP sites) [NCBI:1270359] [REACTOME:R-HSA-73933] [PUBMED:11601988] [PUBMED:15260972] [PUBMED:17395641] [PUBMED:19329425] [PUBMED:9804798] [PUBMED:15556996] [PUBMED:9214649] [PUBMED:7608159] [PUBMED:11440997] [PUBMED:15871698] [PUBMED:9207062] [PUBMED:16982218] [PUBMED:8978692]