Gene Gene information from NCBI Gene database.
Entrez ID 55270
Gene name Nudix hydrolase 15
Gene symbol NUDT15
Synonyms (NCBI Gene)
MTH2NUDT15D
Chromosome 13
Chromosome location 13q14.2
Summary This gene encodes an enzyme that belongs to the Nudix hydrolase superfamily. Members of this superfamily catalyze the hydrolysis of nucleoside diphosphates, including substrates like 8-oxo-dGTP, which are a result of oxidative damage, and can induce base
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs116855232 C>T Drug-response Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs147390019 G>A Drug-response Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs186364861 G>A Drug-response Missense variant, non coding transcript variant, coding sequence variant
rs746071566 GAGTCG>-,GAGTCGGAGTCG,GAGTCGGAGTCGGAGTCG Drug-response Non coding transcript variant, inframe deletion, inframe insertion, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
258
miRTarBase ID miRNA Experiments Reference
MIRT024551 hsa-miR-215-5p Microarray 19074876
MIRT026659 hsa-miR-192-5p Microarray 19074876
MIRT051689 hsa-let-7e-5p CLASH 23622248
MIRT1197546 hsa-let-7a CLIP-seq
MIRT1197547 hsa-let-7b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000278 Process Mitotic cell cycle IMP 19419956
GO:0000302 Process Response to reactive oxygen species IEA
GO:0005515 Function Protein binding IPI 19419956, 32296183
GO:0005829 Component Cytosol IBA
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615792 23063 ENSG00000136159
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NV35
Protein name Nucleotide triphosphate diphosphatase NUDT15 (EC 3.6.1.9) (MutT homolog 2) (MTH2) (Nucleoside diphosphate-linked moiety X motif 15) (Nudix motif 15) (Nucleoside diphosphate-linked to another moiety X hydrolase 15) (Nudix hydrolase 15)
Protein function May catalyze the hydrolysis of nucleoside triphosphates including dGTP, dTTP, dCTP, their oxidized forms like 8-oxo-dGTP and the prodrug thiopurine derivatives 6-thio-dGTP and 6-thio-GTP (PubMed:26238318). Could also catalyze the hydrolysis of s
PDB 5BON , 5LPG , 6T5J , 7AOM , 7AOP , 7B63 , 7B64 , 7B65 , 7B66 , 7B67 , 7B7V , 7NR6 , 7R0D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00293 NUDIX 11 144 NUDIX domain Domain
Sequence
Sequence length 164
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Phosphate bond hydrolysis by NUDT proteins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
15
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
azathioprine response - Toxicity drug response rs116855232 RCV001787328
mercaptopurine response - Dosage drug response rs116855232 RCV001788069
NUDT15-related disorder drug response; Likely benign; Benign rs116855232, rs186364861, rs746071566, rs61973267, rs138959770 RCV003982953
RCV003937795
RCV003977582
RCV003981264
RCV003932099
Thiopurines, poor metabolism of, 2 drug response; Likely benign rs116855232, rs147390019, rs186364861, rs746071566 RCV000210853
RCV000210847
RCV000210850
RCV000210852
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alopecia Associate 29923122, 32269192, 32372428
Bone Marrow Diseases Associate 28445187
Cognition Disorders Associate 31601260
Cognitive Dysfunction Associate 31601260
Colitis Ulcerative Associate 32269192
Crohn Disease Associate 29206869, 29398872, 31636477, 32372428
Cyclic neutropenia Associate 26033531, 34425754
Drug Related Side Effects and Adverse Reactions Associate 26033531, 28659275, 29702976, 30728528, 30909691, 30927276, 32094176, 34412101, 35431360, 39334333, 40662362
Gout Associate 30909691
Heavy Chain Disease Associate 34365011