NUDT4
Nudix Hydrolase 4 (Diphosphoinositol Polyphosphate Phosphohydrolase 2)
Gene Information Card
| Symbol | NUDT4 |
|---|---|
| Full Name | Nudix Hydrolase 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q21.1 |
| NCBI Gene ID | 11163 ncbi.nlm.nih.gov/gene/11163 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q9NZJ9 |
| OMIM ID | 609230 |
| HGNC ID | 8053 |
| Aliases | DIPP2, DIPP2A, DIPP2B, HDHD4, MGC10854 |
Description
NUDT4 encodes a member of the nudix hydrolase family. The protein catalyzes the hydrolysis of diphosphoinositol polyphosphates, such as diphosphoinositol pentakisphosphate (InsP7) and bis-diphosphoinositol tetrakisphosphate (InsP8), to inositol hexakisphosphate (InsP6). This activity regulates cellular signaling and energy homeostasis. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in OMIM or ClinVar | N/A | No curated evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Medium |
| Kidney | 6.1 | Low |
| Liver | 4.3 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | High expression |
| HeLa | 7.5 | Medium expression |
| K562 | 5.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% (gnomAD) | Unknown functional effect |
| c.454G>A (p.Gly152Ser) | Missense | <0.01% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • diphosphoinositol-polyphosphate diphosphatase activity | • inositol hexakisphosphate binding |
| • magnesium ion binding | • hydrolase activity |
| • signal transduction | • phosphate-containing compound metabolic process |
Pathways
• Inositol phosphate metabolism (Reactome: R-HSA-1483249)
• Metabolism of water-soluble vitamins and cofactors (Reactome: R-HSA-196854)
Protein Summary
NUDT4 (DIPP2) is a 164-amino acid protein (isoform 1) that belongs to the nudix hydrolase superfamily. It contains a conserved nudix box motif (GX5EX7REUXEEXGU, where U is a hydrophobic residue). The enzyme specifically cleaves the beta-phosphate from diphosphoinositol polyphosphates, converting InsP7 and InsP8 to InsP6. This activity modulates intracellular inositol pyrophosphate levels, which are involved in vesicle trafficking, telomere maintenance, and insulin signaling. The protein is predominantly cytoplasmic.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUDT4B Knockout HEK293 Cell Line | EDJ-KQ14513 | Human | 440672 | Details Get a Quote |
| NUDT4B Knockout A-549 Cell Line | EDJ-KQ44787 | Human | 440672 | Details Get a Quote |
| NUDT4B Knockout HeLa Cell Line | EDJ-KQ44788 | Human | 440672 | Details Get a Quote |
