UNG gene

uracil DNA glycosylase

The information on this page was automatically extracted from online scientific databases.

From NCBI 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) 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]

From UniProt:

Excises uracil residues from the DNA which can arise as a result of misincorporation of dUMP residues by DNA polymerase or due to deamination of cytosine.

From NCBI Gene:

  • Immunodeficiency with hyper IgM type 5

From UniProt:

Immunodeficiency with hyper-IgM 5 (HIGM5): A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections. [MIM:608106]

Cytogenetic Location: 12q24.11, which is the long (q) arm of chromosome 12 at position 24.11

Molecular Location: base pairs 109,097,594 to 109,110,993 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q24.11, which is the long (q) arm of chromosome 12 at position 24.11
  • DGU
  • HIGM4
  • HIGM5
  • UDG
  • UNG1
  • UNG2
  • UNG15