NUDT2

Protein identityUniProt · HPA

UniProt accession

P50583

Gene

NUDT2

Ensembl

ENSG00000164978

Chromosome

9

Canonical length

147 aa

Protein class

Disease related genes, Enzymes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm

OverviewNCBI Gene

This gene encodes a member of the MutT family of nucleotide pyrophosphatases, a subset of the larger NUDIX hydrolase family. The gene product possesses a modification of the MutT sequence motif found in certain nucleotide pyrophosphatases. The enzyme asymmetrically hydrolyzes Ap4A to yield AMP and ATP and is responsible for maintaining the intracellular level of the dinucleotide Ap4A, the function of which has yet to be established. This gene may be a candidate tumor suppressor gene. Alternative splicing has been observed at this locus and four transcript variants, all encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]

Canonical amino-acid sequenceUniProt

147 residues, UniProt reviewed canonical sequence.

>P50583|NUDT2
     1  MALRACGLII FRRCLIPKVD NNAIEFLLLQ ASDGIHHWTP PKGHVEPGED DLETALRETQ
    61  EEAGIEAGQL TIIEGFKREL NYVARNKPKT VIYWLAEVKD YDVEIRLSHE HQAYRWLGLE
   121  EACQLAQFKE MKAALQEGHQ FLCSIEA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NUDT2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.29

Highest tissue expression

41 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NUDT2.

Disease | AllUniProt

Conditions NUDT2 is implicated in, by any mechanism.

• Intellectual developmental disorder with or without peripheral neuropathy (IDDPN) MIM:619844

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 28 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Intellectual developmental disorder with or without peripheral neuropathy
• NUDT2-associated condition
• Intellectual disability
• Complex neurodevelopmental disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.45

gnomAD pLI

0.01

gnomAD missense Z

0.48

DepMap mean gene effect

0.12

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• AMP biosynthetic process
• apoptotic process
• ATP biosynthetic process
• cellular response to oxidative stress
• nucleobase-containing compound metabolic process

Molecular functions

• bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity
• GTP binding
• bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity

Cellular components

• mitochondrial matrix

Protein domainsUniProt · Pfam · InterPro

• NUDIX hydrolase domain
• NUDIX hydrolase-like domain superfamily
• NUDIX hydrolase, conserved site
• NUDIX domain
• Bis(5'-nucleosyl)-tetraphosphatase
• Nudix hydrolase domain-containing protein

KeywordsUniProt

• Acetylation
• GTP-binding
• Hydrolase
• Intellectual disability
• Neuropathy
• Nucleotide-binding