Gene Gene information from NCBI Gene database.
Entrez ID 4968
Gene name 8-oxoguanine DNA glycosylase
Gene symbol OGG1
Synonyms (NCBI Gene)
HMMHHOGG1MUTMOGH1
Chromosome 3
Chromosome location 3p25.3
Summary This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase activity for chain cleavage. Alternative splicing of th
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs104893751 G>A,C Pathogenic Non coding transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
92
miRTarBase ID miRNA Experiments Reference
MIRT040345 hsa-miR-615-3p CLASH 23622248
MIRT052750 hsa-miR-1260b CLASH 23622248
MIRT711096 hsa-miR-6783-5p HITS-CLIP 19536157
MIRT711095 hsa-miR-1178-5p HITS-CLIP 19536157
MIRT711094 hsa-miR-5092 HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
NFYA Activation 14688259
NFYA Unknown 17989114
TP53 Activation 16293709
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
54
GO ID Ontology Definition Evidence Reference
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 27251462
GO:0003677 Function DNA binding IDA 19506022
GO:0003684 Function Damaged DNA binding IDA 14706345
GO:0003684 Function Damaged DNA binding IEA
GO:0003684 Function Damaged DNA binding TAS 9223305
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601982 8125 ENSG00000114026
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15527
Protein name N-glycosylase/DNA lyase [Includes: 8-oxoguanine DNA glycosylase (EC 3.2.2.-); DNA-(apurinic or apyrimidinic site) lyase (AP lyase) (EC 4.2.99.18)]
Protein function DNA repair enzyme that incises DNA at 8-oxoG residues. Excises 7,8-dihydro-8-oxoguanine and 2,6-diamino-4-hydroxy-5-N-methylformamidopyrimidine (FAPY) from damaged DNA. Has a beta-lyase activity that nicks DNA 3' to the lesion.
PDB 1EBM , 1FN7 , 1HU0 , 1KO9 , 1LWV , 1LWW , 1LWY , 1M3H , 1M3Q , 1N39 , 1N3A , 1N3C , 1YQK , 1YQL , 1YQM , 1YQR , 2I5W , 2NOB , 2NOE , 2NOF , 2NOH , 2NOI , 2NOL , 2NOZ , 2XHI , 3IH7 , 3KTU , 5AN4 , 6RLW , 6W0M , 6W0R , 6W13 , 7AYY , 8VWT , 8VWV , 8VX4 , 8VX6 , 9EOZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07934 OGG_N 25 141 8-oxoguanine DNA glycosylase, N-terminal domain Family
PF00730 HhH-GPD 142 301 HhH-GPD superfamily base excision DNA repair protein Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
Sequence length 345
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Base excision repair   Recognition and association of DNA glycosylase with site containing an affected pyrimidine
Cleavage of the damaged pyrimidine
Recognition and association of DNA glycosylase with site containing an affected purine
Cleavage of the damaged purine
Displacement of DNA glycosylase by APEX1
APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway
Defective OGG1 Substrate Binding
Defective OGG1 Substrate Processing
Defective OGG1 Localization
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
51
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)
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
BRAIN DISEASES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC DISCOID LUPUS ERYTHEMATOSUS 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
Acromegaly Acromegaly BEFREE 23368532
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 16949154
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 12164330
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 15840879, 16800823, 22540013, 29209987
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma CTD_human_DG 19336973
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 12163326, 12164330, 16800823, 19336973, 23065211, 23700156, 29209987, 9935223
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CTD_human_DG 23951099
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Basal Cell Adenocarcinoma CTD_human_DG 19336973
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Oxyphilic Adenocarcinoma CTD_human_DG 19336973
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Tubular Adenocarcinoma CTD_human_DG 19336973
★☆☆☆☆
Found in Text Mining only