Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
55270 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Nudix hydrolase 15 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
NUDT15 |
SynonymsGene synonyms aliases
|
MTH2, NUDT15D |
ChromosomeChromosome number
|
13 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
13q14.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
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 |
SNPsSNP information provided by dbSNP.
|
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 |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
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 |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Inflammatory bowel disease |
Inflammatory Bowel Diseases |
rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs139868987, rs750447828, rs368138379, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468 |
27558924, 29923122 |
|
|