NUDT2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | NUDT2 |
| Official Name | nudix hydrolase 2 [Source:HGNC Symbol;Acc:HGNC:8049] |
| Ensembl ID | ENSG00000164978 |
| Bio databases IDs | |
| Aliases | nudix hydrolase 2, Ap4A hydrolase 1, Ap4Aase, bis(5'-nucleosyl)-tetraphosphatase (asymmetrical), diadenosine tetraphosphatase, diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase |
| Synonyms | 2310051L06Rik, Ap4A hydrolase, APAH1, IDDPN, nudix hydrolase 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NUDT2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- NUDIX domain
- phosphatase
- Bis(5'-nucleosyl)-tetraphosphatase (asymmetrical)
- protein binding
- hydrolase
- Bis(5'-nucleosyl)-tetraphosphatase (symmetrical)
- NUDIX hydrolase superfamily
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- intellectual developmental disorder with or without peripheral neuropathy
- intellectual developmental disorder without peripheral neuropathy
- mental retardation
- intellectual developmental disorder with peripheral neuropathy
- complex neurodevelopmental disorder
role in cell
- activation in
- accumulation in
- apoptosis
- expression in
- response by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- detergent resistant lipid raft fraction
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NUDT2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- apoptotic process
- AMP biosynthetic process
- cellular response to oxidative stress
- ATP biosynthetic process
- nucleobase-containing compound metabolic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
Molecular Function
What the gene product does at the molecular level
- GTP binding
- bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity
- bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity
- protein binding