NUDT18

protein-coding

nudix hydrolase 18, the group of Nudix hydrolase family

Gene summary

The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. This protein contains a Nudix hydrolase domain and hydrolyzes oxidized forms of guanosine and deoxyguanosine diphosphates. [provided by RefSeq, Sep 2012]

MANE transcript

NM_024815.4

Inheritance

—

ClinVar variants

U:22B:2

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr8:22,105,748-22,109,419

External References & Databases

Ensembl (ENSG00000275074)

Transcript & Mutation Effects

hg38 • Region Span ~3.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to NUDT18 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 21

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_024815.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			21 clinvar	2 clinvar		23
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	22	2	0	24

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 11 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_024815.4	RefSeq	NP_079091.3	3	MANE Select
ENST00000611621.2	Ensembl	ENSP00000480722.1	3	MANE Select
ENST00000613958.1	Ensembl	ENSP00000479883.1	2	Standard
ENST00000613958.2	Ensembl	ENSP00000479883.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Nucleobase catabolism
Metabolism of nucleotides
Metabolism
Phosphate bond hydrolysis by NUDT proteins
Purine catabolism

Biological Process

nucleobase-containing small molecule catabolic process
dADP catabolic process
dGDP catabolic process
GDP catabolic process

Molecular Function

magnesium ion binding
protein binding
8-oxo-dGDP phosphatase activity
8-oxo-GDP phosphatase activity
8-hydroxy-dADP phosphatase activity

Cellular Component

cytosol

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Mediates the hydrolyzis of oxidized nucleoside diphosphate derivatives. Hydrolyzes 8-oxo-7,8-dihydroguanine (8- oxo-Gua)-containing deoxyribo- and ribonucleoside diphosphates to the monophosphates. Hydrolyzes 8-oxo-dGDP and 8-oxo-GDP with the same efficiencies. Hydrolyzes also 8-OH-dADP and 2-OH-dADP. Exhibited no or minimal hydrolyzis activity against 8-oxo-dGTP, 8- oxo-GTP, dGTP, GTP, dGDP and GDP. Probably removes oxidized guanine nucleotides from both the DNA and RNA precursor pools. {ECO:0000269|PubMed:22556419}.;

Recessive Scores

pRec: 0.111

Essentials

Essential (CRISPR2): N
Indispensability pred.: E
Indispensability score: 0.956

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium