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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.
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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 Show/Hide all (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 Show/Hide all (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 Pathway
Phosphate bond hydrolysis by NUDT proteins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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 Reference Evidence Score
azathioprine response - Toxicity drug response ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
mercaptopurine response - Dosage drug response ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NUDT15-related disorder drug response; Likely benign; Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thiopurines, poor metabolism of, 2 drug response; Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (47)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 25624441, 26033531, 26503813, 26878724, 27193222, 27577869, 28445187, 28903549, 28963908, 29720126, 30474703, 30728528, 31635813
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 25624441, 26503813, 28903549, 30728528, 31635813
★★★★★
★☆☆☆☆
Found in Text Mining only
Agranulocytosis Agranulocytosis BEFREE 30101994
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia BEFREE 26076924, 26590936, 26735160, 28566182, 29923122, 30101994
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia GWASCAT_DG 29923122
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia totalis Alopecia BEFREE 26735160
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Chronic Hepatitis Autoimmune hepatitis BEFREE 31024313
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 29867468, 30639426
★★★★★
★☆☆☆☆
Found in Text Mining only
Bone Marrow Diseases Bone marrow diseases Pubtator 28445187 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia Lymphoblastic Leukemia BEFREE 25624441, 26503813, 27193222, 27577869, 28418010, 28903549, 30728528, 31007757, 31635813
★★★★★
★☆☆☆☆
Found in Text Mining only