NUDT15 (nudix hydrolase 15)

2015-06-01 Affiliation

Identity

HGNC

NUDT15

LOCATION

13q14.2

LOCUSID

55270

ALIAS

MTH2,NUDT15D

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 55270
MIM: 615792
HGNC: 23063
Ensembl: ENSG00000136159

Variants:

dbSNP: 55270
ClinVar: 55270
TCGA: ENSG00000136159
COSMIC: NUDT15

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000136159	ENST00000258662	Q9NV35

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Metabolism	REACTOME	R-HSA-1430728
Metabolism of nucleotides	REACTOME	R-HSA-15869
Phosphate bond hydrolysis by NUDT proteins	REACTOME	R-HSA-2393930

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA165817398	Myelosuppression	Disease	VariantAnnotation	associated		PD
PA165819269	TPMT*2	Haplotype	LabelAnnotation	associated
PA165819270	TPMT*3A	Haplotype	LabelAnnotation	associated
PA165819272	TPMT*3C	Haplotype	LabelAnnotation	associated
PA166153171	8-oxo-dgtp	Chemical	MultilinkAnnotation	not associated			26238318
PA166154759	rs116855232	Variant	LabelAnnotation, VipGene	associated			26076924, 26503813, 26590936, 26735160, 26033531
PA166160633	thioguanosine triphosphate	Chemical	VariantAnnotation	not associated	PK		27530327
PA166160634	deoxy-thioguanosine triphosphate	Chemical	VariantAnnotation	not associated	PK		27530327
PA444773	Leukopenia	Disease	VariantAnnotation	associated		PD	26735160, 28146264, 29923122, 30048756
PA445221	Pancytopenia	Disease	ClinicalAnnotation	associated		PD	30035323, 30101994
PA445846	Thrombocytopenia	Disease	ClinicalAnnotation	associated		PD	30035323, 30101994
PA446116	Inflammatory Bowel Diseases	Disease	ClinicalAnnotation, VariantAnnotation	associated	PK	PD	26033531, 26076924, 26503813, 26590936, 26735160, 27095468, 27193222, 27381176, 27416873, 27530327, 27558924, 27577869, 27604507, 28146264, 29923122, 30048756
PA446155	Precursor Cell Lymphoblastic Leukemia-Lymphoma	Disease	ClinicalAnnotation, VariantAnnotation	associated	PK	PD	26033531, 26076924, 26503813, 26590936, 26735160, 26878724, 27095468, 27193222, 27381176, 27416873, 27530327, 27558924, 27577869, 27604507, 28146264, 28445187, 28659275, 29923122, 29967377, 30048756
PA448515	azathioprine	Chemical	ClinicalAnnotation, GuidelineAnnotation, LabelAnnotation, Literature, MultilinkAnnotation, VariantAnnotation, VipGene	associated	PK	PD	25108385, 26033531, 26076924, 26503813, 26590936, 26735160, 27095468, 27193222, 27381176, 27416873, 27530327, 27558924, 27577869, 27604507, 28146264, 29923122, 30035323, 30048756, 30101994
PA450379	mercaptopurine	Chemical	ClinicalAnnotation, GuidelineAnnotation, LabelAnnotation, VariantAnnotation, VipGene	associated	PK	PD	26033531, 26076924, 26503813, 26590936, 26735160, 26878724, 27095468, 27193222, 27381176, 27416873, 27530327, 27558924, 27577869, 27604507, 28146264, 28445187, 28659275, 29923122, 29967377, 30035323, 30048756, 30101994
PA451663	thioguanine	Chemical	GuidelineAnnotation, LabelAnnotation, MultilinkAnnotation, VariantAnnotation	associated		PD	27530327

References

Pubmed ID	Year	Title	Citations
25108385	2014	A common missense variant in NUDT15 confers susceptibility to thiopurine-induced leukopenia.	95
26878724	2016	NUDT15 polymorphisms alter thiopurine metabolism and hematopoietic toxicity.	83
25624441	2015	Inherited NUDT15 variant is a genetic determinant of mercaptopurine intolerance in children with acute lymphoblastic leukemia.	80
26238318	2015	Crystal structure, biochemical and cellular activities demonstrate separate functions of MTH1 and MTH2.	34
26076924	2016	NUDT15 R139C causes thiopurine-induced early severe hair loss and leukopenia in Japanese patients with IBD.	33
26033531	2015	Susceptibility to 6-MP toxicity conferred by a NUDT15 variant in Japanese children with acute lymphoblastic leukaemia.	31
26503813	2016	NUDT15 gene polymorphism related to mercaptopurine intolerance in Taiwan Chinese children with acute lymphoblastic leukemia.	25
26590936	2016	NUDT15 R139C-related thiopurine leukocytopenia is mediated by 6-thioguanine nucleotide-independent mechanism in Japanese patients with inflammatory bowel disease.	25
28659275	2017	Novel variants in NUDT15 and thiopurine intolerance in children with acute lymphoblastic leukemia from diverse ancestry.	24
26405151	2016	NUDT15 c.415C>T increases risk of 6-mercaptopurine induced myelosuppression during maintenance therapy in children with acute lymphoblastic leukemia.	22

Citation

Dessen P

NUDT15 (nudix hydrolase 15)

Atlas Genet Cytogenet Oncol Haematol. 2015-06-01

Online version: http://atlasgeneticsoncology.org/gene/55280/nudt15