NUDT18
Nudix Hydrolase 18 – Regulator of Nucleotide Pool Sanitization and Oxidative Stress Response
Gene Information Card
| Symbol | NUDT18 |
|---|---|
| Full Name | nudix hydrolase 18 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p21.3 |
| NCBI Gene ID | 79873 ncbi.nlm.nih.gov/gene/79873 |
| Ensembl ID | ENSG00000173566 |
| UniProt ID | Q6ZV89 |
| OMIM ID | 609230 |
| HGNC ID | 26769 |
| Aliases | MTH2, NUDT18, hMTH2, NUDT18A |
Description
NUDT18 (nudix hydrolase 18) encodes a member of the nudix hydrolase family that catalyzes the hydrolysis of oxidized nucleotide triphosphates, such as 8-oxo-dGTP and 8-oxo-GTP, to their monophosphate forms, thereby preventing their incorporation into DNA and RNA. This sanitization activity protects the genome and transcriptome from oxidative damage. The protein is localized to the cytoplasm and nucleus. NUDT18 is also known as MTH2 (MutT homolog 2) and is closely related to NUDT1 (MTH1).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Loss of NUDT18 activity may increase mutagenesis from oxidized nucleotides; overexpression may protect tumor cells from oxidative stress | COSMIC mutation data; literature on MTH2 in cancer |
| Oxidative stress-related disorders | Impaired nucleotide pool sanitization leads to accumulation of 8-oxo-dG in DNA | Functional studies in cell lines |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Liver | 6.1 | Low |
| Heart | 5.4 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.3 | Embryonic kidney |
| HeLa | 7.9 | Cervical carcinoma |
| A549 | 6.5 | Lung carcinoma |
| MCF7 | 5.2 | Breast carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Gly105Arg | Missense | <0.01% (COSMIC) | Unknown functional effect |
| p.Val112Met | Missense | <0.01% (COSMIC) | Unknown functional effect |
| c.321+1G>A | Splice site | <0.01% (ClinVar) | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Splice site mutations and truncating variants are predicted to reduce or abolish hydrolase activity, impairing nucleotide pool sanitization.
Gain of Function (GOF)
Not reported in literature or databases.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • 8-oxo-7 | • 8-dihydroguanosine triphosphate pyrophosphatase activity |
| • nucleotide binding | • hydrolase activity |
| • cytoplasm | • nucleus |
| • oxidation-reduction process |
Pathways
• Nucleotide metabolism
• Oxidative stress response
• DNA repair (sanitization)
Protein Summary
NUDT18 is a 236-amino acid protein containing a nudix hydrolase domain. It preferentially hydrolyzes 8-oxo-dGTP and 8-oxo-GTP, reducing the pool of oxidized nucleotides available for DNA and RNA synthesis. The protein is expressed in multiple tissues, with highest levels in testis. Its activity complements that of NUDT1 (MTH1) and NUDT15.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUDT18 Knockout HEK293 Cell Line | EDJ-KQ14517 | Human | 79873 | Details Get a Quote |
| NUDT18 Knockout A-549 Cell Line | EDJ-KQ44793 | Human | 79873 | Details Get a Quote |
| NUDT18 Knockout HCT 116 Cell Line | EDJ-KQ44794 | Human | 79873 | Details Get a Quote |
| NUDT18 Knockout HeLa Cell Line | EDJ-KQ44795 | Human | 79873 | Details Get a Quote |
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