NUDT2

Chr 9AR

nudix hydrolase 2

Also known as: APAH1, IDDPN

NCBI Gene: 318 ENSG00000164978 UniProt: P50583 OMIM: 602852

The NUDT2 protein is a nucleotide pyrophosphatase that hydrolyzes diadenosine tetraphosphate (Ap4A) to maintain intracellular dinucleotide levels and exhibits decapping activity towards certain RNA molecules. Biallelic mutations cause autosomal recessive intellectual developmental disorder with or without peripheral neuropathy. The gene is not highly constrained against loss-of-function variants, consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder with or without peripheral neuropathyMIM #619844

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.45

LOEUF

LOF

Mechanism· G2P