1. Gene
  2. NUDT15 - nudix hydrolase 15 Gene

NUDT15 - nudix hydrolase 15 Gene

Homo sapiens

Also known as MTH2; NUDT15D

Gene ID: 55270 | Gene type: protein coding

About NUDT15

Cytogenetic location: 13q14.2 Genomic coordinates (GRCh38): 13:48,037,726-48,052,755 (from NCBI)

This gene has 1 transcript (splice variant), 205 orthologues and is associated with 3 phenotypes. Ubiquitous expression in colon (RPKM 4.7), duodenum (RPKM 4.1) and 25 other tissues.

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]

NUDT15 Products(2)

mRNA Protein Name
NM_001304745.2 NP_001291674.1 nucleotide triphosphate diphosphatase NUDT15 isoform 2
NM_018283.4 NP_060753.1 nucleotide triphosphate diphosphatase NUDT15 isoform 1

NUDT15 Protein Structure

NUDIX

NUDIX: NUDIX domain (15 - 132)

  • 0
  • 100
  • 164 a.a.
Protein Preferred Names Protein Names

nucleotide triphosphate diphosphatase NUDT15

8-oxo-dGTPase NUDT15

Related Diseases

Diseases Alias
Thiopurines, Poor Metabolism Of, 2

THPM2

Nudt15 Deficiency

Leukemia, Acute Lymphoblastic 3

Leukemia, Acute Lymphoblastic, Susceptibility To, 3

ALL3

Precursor B-Cell Acute Lymphoblastic Leukemia

B-All

Precursor B-Cell Acute Lymphoblastic Leukemia/Lymphoma

Precursor B-Cell Acute Lymphocytic Leukemia

Precursor B-Cell Acute Lymphocytic Leukemia/Lymphoma

Precursor B-Cell Lymphoblastic Leukemia-Lymphoma

Burkitt Lymphoma

Precursor B-Cell Lymphoblastic Leukemia

Thiopurines, Poor Metabolism Of, 1

Thiopurine S-Methyltransferase Deficiency

Tpmt Deficiency

Thiopurine Methyltransferase Deficiency

Thiopurine S Methyltranferase Deficiency

THPM1

Tpmtd

Poor Metabolism Of Thiopurines-1

6-Mercaptopurine Sensitivity

Thiopurines, Poor Metabolism Of

Poor Metabolism Of Thiopurines

Precursor T-Cell Acute Lymphoblastic Leukemia

T-All

Precursor T-Cell Acute Lymphoblastic Leukemia/Lymphoma

Precursor T-Cell Acute Lymphocytic Leukemia

Precursor T-Cell Acute Lymphocytic Leukemia/Lymphoma

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Adult T-Cell Lymphoma/Leukemia

Alopecia
Liver Rhabdomyosarcoma

Rhabdomyosarcoma Of Liver

Gastroduodenal Crohn'S Disease

Upper Gi Crohn'S Disease

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus NUDT15 MGD MGI:2443366
Bos taurus NUDT15 VGNC VGNC:32329
Macaca mulatta NUDT15 VGNC VGNC:106278
Rattus norvegicus NUDT15 RGD RGD:1308292
Felis catus NUDT15 VGNC VGNC:102274
Canis familiaris NUDT15 VGNC VGNC:44027