NUDT4B Gene: Nudix Hydrolase 4B
A member of the Nudix hydrolase family involved in nucleotide metabolism and cellular signaling.
Gene Information Card
| Symbol | NUDT4B |
|---|---|
| Full Name | nudix hydrolase 4B |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 3187 ncbi.nlm.nih.gov/gene/3187 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q9NZJ9 |
| OMIM ID | 609230 |
| HGNC ID | 8046 |
| Aliases | DIPP2B, DIPP2beta, NUDT4 |
Description
NUDT4B (nudix hydrolase 4B) encodes a member of the Nudix hydrolase family. The protein catalyzes the hydrolysis of diphosphoinositol polyphosphates, such as diphosphoinositol pentakisphosphate (IP7) and bis-diphosphoinositol tetrakisphosphate (IP8), to lower inositol phosphates. This activity regulates cellular signaling pathways involving inositol pyrophosphates, which are important for phosphate homeostasis, vesicle trafficking, and cell growth.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not applicable | Not applicable |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 7.9 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.4 | Moderate expression |
| HeLa | 8.7 | Moderate expression |
| K562 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar or COSMIC | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function mutations.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
No documented dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • diphosphoinositol-polyphosphate diphosphatase activity | • inositol phosphate metabolic process |
| • nucleotide binding | • magnesium ion binding |
Pathways
• Inositol phosphate metabolism
• Phosphatidylinositol signaling system
Protein Summary
The NUDT4B protein is a 164-amino acid nudix hydrolase that specifically cleaves diphosphate groups from diphosphoinositol polyphosphates. It contains a conserved nudix box motif (GX5EX7REUXEEXGU, where U is a hydrophobic residue) essential for catalytic activity. The enzyme regulates intracellular levels of inositol pyrophosphates, which act as signaling molecules modulating cellular processes such as insulin signaling, vesicle trafficking, and phosphate homeostasis.
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 |
