NUDT2 Gene (Nudix Hydrolase 2)
Key regulator of cellular diadenosine polyphosphate and mRNA decapping homeostasis
Gene Information Card
| Symbol | NUDT2 |
|---|---|
| Full Name | Nudix Hydrolase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 9p13.3 |
| NCBI Gene ID | 318 ncbi.nlm.nih.gov/gene/318 |
| Ensembl ID | ENSG00000164978 |
| UniProt ID | P50583 |
| OMIM ID | 602852 |
| HGNC ID | 8048 |
| Aliases | APAH1, DIPP, DIPP1, NUDT2L |
Description
NUDT2 encodes a member of the nudix hydrolase family that cleaves diadenosine tetraphosphate (Ap4A) and other dinucleoside polyphosphates. The enzyme also possesses mRNA decapping activity, hydrolyzing the cap structure m7GpppN to release m7GDP. NUDT2 plays a role in cellular signaling, stress response, and RNA metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| NUDT2-related neurodevelopmental disorder | Loss-of-function mutations impair Ap4A hydrolysis, leading to accumulation of Ap4A and altered cellular signaling | ClinVar, OMIM |
| Breast cancer | Overexpression of NUDT2 correlates with poor prognosis; promotes cell proliferation via Ap4A regulation | COSMIC, PubMed |
| Colorectal cancer | Somatic mutations and altered expression linked to tumor progression | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.3 | Low |
| Heart | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.3 | Moderate expression |
| HeLa | 9.7 | Moderate expression |
| MCF7 | 7.4 | Low expression |
| HepG2 | 6.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.430C>T (p.Arg144*) | Nonsense | Rare | Loss of function; associated with neurodevelopmental disorder |
| c.497G>A (p.Arg166Gln) | Missense | Rare | Reduced enzymatic activity; reported in ClinVar |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein; missense mutations reducing hydrolase activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • bis(5'-nucleosyl)-tetraphosphatase activity | • mRNA cap binding |
| • mRNA catabolic process | • diadenosine tetraphosphate catabolic process |
| • nucleoside phosphate metabolic process | • cytoplasm |
Pathways
• mRNA decapping
• Purine metabolism
• Diadenosine polyphosphate metabolism
Protein Summary
NUDT2 is a 147-amino acid protein (17 kDa) belonging to the nudix hydrolase superfamily. It contains a conserved nudix box motif (GX5EX7REUXEEXGU, where U is a hydrophobic residue). The enzyme hydrolyzes diadenosine tetraphosphate (Ap4A) to ATP and AMP, and also cleaves the mRNA cap structure m7GpppN to m7GDP and NMP. NUDT2 is localized in the cytoplasm and is involved in regulating intracellular Ap4A levels, which act as alarmones under stress conditions. The protein also participates in mRNA decapping, influencing gene expression post-transcriptionally.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUDT2 Knockout HEK293 Cell Line | EDJ-KQ3227 | Human | 318 | Details Get a Quote |
| NUDT2 Knockout HCT 116 Cell Line | EDJ-KQ23341 | Human | 318 | Details Get a Quote |
| NUDT2 Knockout A-549 Cell Line | EDJ-KQ24733 | Human | 318 | Details Get a Quote |
| NUDT2 Knockout HeLa Cell Line | EDJ-KQ24735 | Human | 318 | Details Get a Quote |
| NUDT22 Knockout HEK293 Cell Line | EDJ-KQ51834 | Human | 84304 | Details Get a Quote |
| NUDT22 Knockout HeLa Cell Line | EDJ-KQ57576 | Human | 84304 | Details Get a Quote |
| NUDT22 Knockout A-549 Cell Line | EDJ-KQ66072 | Human | 84304 | Details Get a Quote |
| NUDT22 Knockout HCT 116 Cell Line | EDJ-KQ74494 | Human | 84304 | Details Get a Quote |
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