NUDT22
Nudix Hydrolase 22
Gene Information Card
| Symbol | NUDT22 |
|---|---|
| Full Name | Nudix Hydrolase 22 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 84316 ncbi.nlm.nih.gov/gene/84316 |
| Ensembl ID | ENSG00000137710 |
| UniProt ID | Q9BRQ3 |
| OMIM ID | 615159 |
| HGNC ID | 26442 |
| Aliases | MGC13170, FLJ22662 |
Description
NUDT22 (Nudix Hydrolase 22) is a protein-coding gene that encodes a member of the Nudix hydrolase family. The protein hydrolyzes nucleoside diphosphate derivatives, particularly UDP-glucose and UDP-glucuronic acid, and may play a role in cellular metabolism and signaling. NUDT22 is located on chromosome 11q13.1 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations reported | Not applicable | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Testis | 8.9 | Medium |
| Brain | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HepG2 | 12.3 | Medium expression |
| K562 | 8.7 | Medium expression |
| A549 | 6.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | 0.001% (gnomAD) | Unknown functional effect |
| c.454G>A (p.Gly152Ser) | Missense | 0.002% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • catalytic activity (GO:0003824) | • hydrolase activity (GO:0016787) |
| • metal ion binding (GO:0046872) | • cytoplasm (GO:0005737) |
Pathways
• Metabolism of nucleotides (Reactome: R-HSA-15869)
Protein Summary
NUDT22 is a 236-amino acid protein belonging to the Nudix hydrolase superfamily. It catalyzes the hydrolysis of nucleoside diphosphate derivatives, such as UDP-glucose and UDP-glucuronic acid, into nucleoside monophosphates and sugar phosphates. The protein is localized in the cytoplasm and may regulate cellular levels of UDP-sugars, impacting glycosylation and metabolic pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| 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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