NUDT15 nudix hydrolase 15 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NUDT15provided by HGNC
Official Full Name: nudix hydrolase 15provided by HGNC
Primary source: HGNC:HGNC:23063
See related: Ensembl:ENSG00000136159 MIM:615792; AllianceGenome:HGNC:23063
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MTH2; NUDT15D
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 mispairing during DNA replication, causing transversions. The encoded enzyme is a negative regulator of thiopurine activation and toxicity. Mutations in this gene result in poor metabolism of thiopurines, and are associated with thiopurine-induced early leukopenia. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Apr 2016]
Expression: Ubiquitous expression in colon (RPKM 4.7), duodenum (RPKM 4.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q14.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (48037726..48052755)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (47258119..47273139)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (48611862..48626891)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NUDT15 Polymorphism and Its Association With Mercaptopurine Hematotoxicity in Acute Lymphoblastic Leukemia in Indonesian Children.
Title: NUDT15 Polymorphism and Its Association With Mercaptopurine Hematotoxicity in Acute Lymphoblastic Leukemia in Indonesian Children.
Novel variant in Nudix hydrolase 15 gene influences 6-mercaptopurine toxicity in childhood acute lymphoblastic leukemia patients.
Title: Novel variant in Nudix hydrolase 15 gene influences 6-mercaptopurine toxicity in childhood acute lymphoblastic leukemia patients.
Association of NUDT15 gene polymorphism with adverse reaction, treatment efficacy, and dose of 6-mercaptopurine in patients with acute lymphoblastic leukemia: a systematic review and meta-analysis.
Title: Association of NUDT15 gene polymorphism with adverse reaction, treatment efficacy, and dose of 6-mercaptopurine in patients with acute lymphoblastic leukemia: a systematic review and meta-analysis.
The c.415C>T polymorphism in NUDT15 is more frequent than the polymorphisms in TPMT in Chilean patients who use thiopurine drugs.
Title: The c.415C>T polymorphism in NUDT15 is more frequent than the polymorphisms in TPMT in Chilean patients who use thiopurine drugs.
Analysis of the NUDT15 gene and metabolites of azathioprine in Japanese patients with inflammatory bowel disease.
Title: Analysis of the NUDT15 gene and metabolites of azathioprine in Japanese patients with inflammatory bowel disease.
The influence of NUDT15 variants on 6-mercaptopurine-induced neutropenia in Vietnamese pediatric acute lymphoblastic leukemia.
Title: The influence of NUDT15 variants on 6-mercaptopurine-induced neutropenia in Vietnamese pediatric acute lymphoblastic leukemia.
Single-Nucleotide Polymorphisms, c.415C > T (Arg139Cys) and c.416G > A (Arg139His), in the NUDT15 Gene Are Associated with Thiopurine-Induced Leukopenia.
Title: Single-Nucleotide Polymorphisms, c.415C > T (Arg139Cys) and c.416G > A (Arg139His), in the NUDT15 Gene Are Associated with Thiopurine-Induced Leukopenia.
Low NUDT15 expression levels due to biallelic NUDT15 variants and 6-mercaptopurine intolerance.
Title: Low NUDT15 expression levels due to biallelic NUDT15 variants and 6-mercaptopurine intolerance.
Nudix hydrolase 15 (NUDT15) loss-of-function variants in an Australian inflammatory bowel disease population.
Title: Nudix hydrolase 15 (NUDT15) loss-of-function variants in an Australian inflammatory bowel disease population.
Prominence of NUDT15 genetic variation associated with 6-mercaptopurine tolerance in a genome-wide association study of Japanese children with acute lymphoblastic leukaemia.
Title: Prominence of NUDT15 genetic variation associated with 6-mercaptopurine tolerance in a genome-wide association study of Japanese children with acute lymphoblastic leukaemia.

Submit: New GeneRIF Correction See all GeneRIFs (85)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Azathioprine response MedGen: CN077959 GeneReviews: Not available	not available
Mercaptopurine response MedGen: CN077995 GeneReviews: Not available	not available
Thioguanine response MedGen: CN078017 GeneReviews: Not available	not available
Thiopurines, poor metabolism of, 2 MedGen: C4225160 OMIM: 616903 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:494857

NoName (e-PCR)
- UniSTS:486767

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 8-oxo-(d)RTP hydrolase activity	IEA Inferred from Electronic Annotation more info
enables 8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity	EXP Inferred from Experiment more info	PubMed
enables 8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables 8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables 8-oxo-dGDP phosphatase activity	EXP Inferred from Experiment more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleoside triphosphate diphosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
NOT involved_in DNA protection	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA protection	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dGTP catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in dGTP catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nucleobase-containing small molecule metabolic process	TAS Traceable Author Statement more info
involved_in nucleoside phosphate catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in nucleoside phosphate catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in purine nucleotide catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of proteasomal protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to reactive oxygen species	IEA Inferred from Electronic Annotation more info
involved_in xenobiotic catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: nucleotide triphosphate diphosphatase NUDT15

Names: 8-oxo-dGTPase NUDT15; mutT homolog 2; nucleoside diphosphate-linked to another moiety X hydrolase 15; nudix (nucleoside diphosphate linked moiety X)-type motif 15; probable 7,8-dihydro-8-oxoguanine triphosphatase NUDT15; probable 8-oxo-dGTP diphosphatase NUDT15

NP_001291674.1

EC 3.6.1.9

NP_060753.1

EC 3.6.1.9

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_047021.1 RefSeqGene

Range

5160..14655

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001304745.2 → NP_001291674.1 nucleotide triphosphate diphosphatase NUDT15 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR compared to variant 1. The encoded isoform (2) has a distinct, shorter C-terminus than isoform 1.

Source sequence(s)

AK001818, BC050698

UniProtKB/Swiss-Prot

Q9NV35

Conserved Domains (1) summary

cl00447
Location:28 → 119

Nudix_Hydrolase; Nudix hydrolase is a superfamily of enzymes found in all three kingdoms of life, and it catalyzes the hydrolysis of NUcleoside DIphosphates linked to other moieties, X. Enzymes belonging to this superfamily require a divalent cation, such as Mg2+ or Mn2+ ...
NM_018283.4 → NP_060753.1 nucleotide triphosphate diphosphatase NUDT15 isoform 1

See identical proteins and their annotated locations for NP_060753.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AK001818, BC064607

Consensus CDS

CCDS9407.1

UniProtKB/Swiss-Prot

A2RUR6, Q32Q27, Q6P2C9, Q9NV35

Related

ENSP00000258662.1, ENST00000258662.3

Conserved Domains (1) summary

cd04678
Location:28 → 143

Nudix_Hydrolase_19; Members of the Nudix hydrolase superfamily catalyze the hydrolysis of NUcleoside DIphosphates linked to other moieties, X. Enzymes belonging to this superfamily require a divalent cation, such as Mg2+ or Mn2+, for their activity and contain a highly ...