GMPR2
Guanosine Monophosphate Reductase 2
Gene Information Card
| Symbol | GMPR2 |
|---|---|
| Full Name | Guanosine Monophosphate Reductase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q12 |
| NCBI Gene ID | 51292 ncbi.nlm.nih.gov/gene/51292 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9P2T1 |
| OMIM ID | 610781 |
| HGNC ID | 4377 |
| Aliases | GMPR 2, GMPR-beta |
Description
GMPR2 encodes guanosine monophosphate reductase 2, an enzyme that catalyzes the irreversible NADPH-dependent reductive deamination of guanosine monophosphate (GMP) to inosine monophosphate (IMP), playing a key role in purine nucleotide metabolism and maintaining the intracellular balance of guanine and adenine nucleotides.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ribose-5-phosphate isomerase deficiency | Potential indirect involvement via purine metabolism disruption | Not directly established; no specific disease association in ClinVar or OMIM |
| Gout | Altered purine metabolism may contribute to uric acid overproduction | Inferred from pathway; no direct evidence in ClinVar |
| Cancer (general) | Dysregulation of nucleotide metabolism affecting cell proliferation | COSMIC reports somatic mutations in various cancers |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Heart | 6.2 | Low |
| Brain | 4.1 | Low |
| Testis | 15.6 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.5 | Moderate expression |
| HeLa | 8.2 | Moderate expression |
| K562 | 6.9 | Low expression |
| HepG2 | 14.1 | High 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.482G>A (p.Arg161Gln) | Missense | <0.01% (gnomAD) | Unknown functional effect |
| c.614A>G (p.Tyr205Cys) | Missense | <0.01% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or literature.
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)
| • GMP reductase activity (GO:0003920) | • purine nucleotide biosynthetic process (GO:0006164) |
| • cytosol (GO:0005829) | • cytoplasm (GO:0005737) |
| • oxidation-reduction process (GO:0055114) |
Pathways
• Purine metabolism (Reactome: R-HSA-73847)
• GMP metabolic process (KEGG: hsa00230)
Protein Summary
GMPR2 is a 37 kDa cytosolic enzyme that belongs to the IMPDH/GMPR family. It uses NADPH to reduce GMP to IMP, thereby regulating the guanine nucleotide pool. The protein is expressed in multiple tissues with highest levels in testis and liver. Structural studies indicate a homotetrameric arrangement.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GMPR2 Knockout HEK293 Cell Line | EDJ-KQ11018 | Human | 51292 | Details Get a Quote |
| GMPR2 Knockout A-549 Cell Line | EDJ-KQ38903 | Human | 51292 | Details Get a Quote |
| GMPR2 Knockout HCT 116 Cell Line | EDJ-KQ38904 | Human | 51292 | Details Get a Quote |
| GMPR2 Knockout HeLa Cell Line | EDJ-KQ38905 | Human | 51292 | Details Get a Quote |
