• Gene id: 7374

Gene Summary

• Gene Symbol: UNG   Gene   UCSC   Ensembl
• Aliases: DGU, HIGM4, HIGM5, UDG, UNG1, UNG15, UNG2
• Gene name: uracil DNA glycosylase
• Alternate names: uracil-DNA glycosylase, uracil-DNA glycosylase 1, uracil-DNA glycosylase 2,
• Gene location: 12q24.11 (109097596: 109110991)     Exons: 7     NC_000012.12
• Gene summary(Entrez): 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)
• OMIM: 605933

Protein Summary

• Protein general information: P13051  
  • Name: Uracil DNA glycosylase (UDG) (EC 3.2.2.27)
  • Length: 313  
  • Mass: 34645
  • Tissue specificity: Isoform 1 is widely expressed with the highest expression in skeletal muscle, heart and testicles. Isoform 2 has the highest expression levels in tissues containing proliferating cells.
• Sequence:

  MIGQKTLYSFFSPSPARKRHAPSPEPAVQGTGVAGVPEESGDAAAIPAKKAPAGQEEPGTPPSSPLSAEQLDRIQ
  RNKAAALLRLAARNVPVGFGESWKKHLSGEFGKPYFIKLMGFVAEERKHYTVYPPPHQVFTWTQMCDIKDVKVVI
  LGQDPYHGPNQAHGLCFSVQRPVPPPPSLENIYKELSTDIEDFVHPGHGDLSGWAKQGVLLLNAVLTVRAHQANS
  HKERGWEQFTDAVVSWLNQNSNGLVFLLWGSYAQKKGSAIDRKRHHVLQTAHPSPLSVYRGFFGCRHFSKTNELL
  QKSGKKPIDWKEL

• Structural information:
  • Interpro: IPR002043  IPR018085  IPR005122  IPR036895  
  • Prosite: PS00130
  • CDD: cd10027
  • PDB: 1AKZ 1DPU 1EMH 1EMJ 1Q3F 1SSP 1UGH 1YUO 2HXM 2OXM 2OYT 2SSP 3FCF 3FCI 3FCK 3FCL 3TKB 4SKN 5AYR 5JK7
  • PDBsum: 1AKZ 1DPU 1EMH 1EMJ 1Q3F 1SSP 1UGH 1YUO 2HXM 2OXM 2OYT 2SSP 3FCF 3FCI 3FCK 3FCL 3TKB 4SKN 5AYR 5JK7
  • DIP: 24194
  • STRING: ENSP00000242576
• Other Databases: GeneCards:  UNG  Malacards:  UNG

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0097510	base-excision repair, AP site formation via deaminated base removal	IBA	biological process
GO:0004844	uracil DNA N-glycosylase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0006284	base-excision repair	IEA	biological process
GO:0016799	hydrolase activity, hydrolyzing N-glycosyl compounds	IEA	molecular function
GO:0004844	uracil DNA N-glycosylase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0004844	uracil DNA N-glycosylase activity	TAS	molecular function
GO:0006281	DNA repair	TAS	biological process
GO:0006284	base-excision repair	TAS	biological process
GO:0004844	uracil DNA N-glycosylase activity	TAS	molecular function
GO:0004844	uracil DNA N-glycosylase activity	TAS	molecular function
GO:0045008	depyrimidination	TAS	biological process
GO:0045008	depyrimidination	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0006284	base-excision repair	IEA	biological process
GO:0016447	somatic recombination of immunoglobulin gene segments	IEA	biological process
GO:0016446	somatic hypermutation of immunoglobulin genes	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0004844	uracil DNA N-glycosylase activity	IEA	molecular function
GO:0045190	isotype switching	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0004844	uracil DNA N-glycosylase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0006284	base-excision repair	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0004844	uracil DNA N-glycosylase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0097510	base-excision repair, AP site formation via deaminated base removal	IDA	biological process
GO:0003684	damaged DNA binding	IDA	molecular function
GO:0043024	ribosomal small subunit binding	IPI	molecular function
GO:0005634	nucleus	NAS	cellular component
GO:0004844	uracil DNA N-glycosylase activity	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05340	Primary immunodeficiency
hsa03410	Base excision repair

Diseases

Associated diseases	References
Hyper IgM syndromes, autosomal recessive type	KEGG:H00086
Hyper IgM syndromes, autosomal recessive type	KEGG:H00086
Dysgammaglobulinemia	PMID:12958596
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray