Gene Gene information from NCBI Gene database.
Entrez ID 9941
Gene name Exo/endonuclease G
Gene symbol EXOG
Synonyms (NCBI Gene)
ENDOGL1ENDOGL2ENGLENGL-aENGL-bENGLAENGLB
Chromosome 3
Chromosome location 3p22.2
Summary This gene encodes an endo/exonuclease with 5`-3` exonuclease activity. The encoded enzyme catalyzes the hydrolysis of ester linkages at the 5` end of a nucleic acid chain. This enzyme is localized to the mitochondria and may play a role in programmed cell
miRNA miRNA information provided by mirtarbase database.
332
miRTarBase ID miRNA Experiments Reference
MIRT042345 hsa-miR-484 CLASH 23622248
MIRT438740 hsa-miR-654-3p qRT-PCR 24974767
MIRT438740 hsa-miR-654-3p qRT-PCR 24974767
MIRT438740 hsa-miR-654-3p qRT-PCR 24974767
MIRT438740 hsa-miR-654-3p qRT-PCR 24974767
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0000014 Function Single-stranded DNA endodeoxyribonuclease activity IBA
GO:0003676 Function Nucleic acid binding IEA
GO:0004518 Function Nuclease activity IEA
GO:0004519 Function Endonuclease activity IDA 18187503
GO:0004519 Function Endonuclease activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604051 3347 ENSG00000157036
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y2C4
Protein name Nuclease EXOG, mitochondrial (EC 3.1.30.-) (Endonuclease G-like 1) (Endo G-like 1)
Protein function Endo/exonuclease with nicking activity towards supercoiled DNA, a preference for single-stranded DNA and 5'-3' exonuclease activity.
PDB 4A1N , 5T3V , 5T40 , 5T4I , 5T5C , 5ZKI , 5ZKJ , 6IID , 7R6T , 7R6V , 9FXN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01223 Endonuclease_NS 58 287 DNA/RNA non-specific endonuclease Domain
PF18026 Exog_C 302 350 Endo/exonuclease (EXOG) C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
Sequence length 368
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRUGADA SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Sarcoma Likely benign ClinVar
★★☆☆☆
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
Depressive Disorder Major depressive disorder Pubtator 37834200 Associate
★☆☆☆☆
Found in Text Mining only
Depressive Disorder Major Major depressive disorder Pubtator 37834200 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 17415550
★☆☆☆☆
Found in Text Mining only