GNPDA2
Glucosamine-6-Phosphate Deaminase 2
Gene Information Card
| Symbol | GNPDA2 |
|---|---|
| Full Name | Glucosamine-6-Phosphate Deaminase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p16.3 |
| NCBI Gene ID | 132789 ncbi.nlm.nih.gov/gene/132789 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q8TDQ7 |
| OMIM ID | 613222 |
| HGNC ID | 23015 |
| Aliases | GNPDA2, FLJ10618, MGC138207 |
Description
GNPDA2 encodes glucosamine-6-phosphate deaminase 2, an enzyme that catalyzes the reversible conversion of glucosamine-6-phosphate to fructose-6-phosphate and ammonia, playing a role in hexosamine biosynthesis and metabolic regulation. The gene is associated with body mass index and obesity risk in genome-wide association studies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | GWAS association; variant rs10938397 near GNPDA2 linked to increased BMI | PMID: 19079260, GWAS Catalog |
| Type 2 Diabetes | Indirect association via obesity-related metabolic pathways | PMID: 19079260 |
| Metabolic Syndrome | Potential contribution through hexosamine pathway dysregulation | Inferred from function |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Adipose tissue | 8.3 | Low |
| Liver | 6.1 | Low |
| Pancreas | 5.4 | Low |
| Muscle | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Moderate expression |
| HeLa | 10.2 | Low expression |
| HepG2 | 8.5 | Low expression |
| SH-SY5Y | 20.1 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs10938397 | SNP (intergenic near GNPDA2) | Common (allele frequency ~0.45 in Europeans) | Associated with increased BMI and obesity risk |
| rs13130484 | SNP (intronic) | Common | Linked to waist circumference |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • glucosamine-6-phosphate deaminase activity (GO:0004343) | • ammonia-lyase activity (GO:0016841) |
| • carbohydrate metabolic process (GO:0005975) | • hexosamine biosynthetic process (GO:0006054) |
| • cytoplasm (GO:0005737) |
Pathways
• Hexosamine biosynthetic pathway (Reactome: R-HSA-446203)
• Amino sugar and nucleotide sugar metabolism (KEGG: hsa00520)
Protein Summary
Glucosamine-6-phosphate deaminase 2 is a 289-amino acid protein that forms a homodimer and catalyzes the deamination of glucosamine-6-phosphate to fructose-6-phosphate. It is involved in the hexosamine pathway, which modulates insulin signaling and glucose homeostasis. The protein is expressed in multiple tissues, with highest levels in brain and neuronal cell lines.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GNPDA2 Knockout HEK293 Cell Line | EDJ-KQ9303 | Human | 132789 | Details Get a Quote |
| GNPDA2 Knockout HCT 116 Cell Line | EDJ-KQ35917 | Human | 132789 | Details Get a Quote |
| GNPDA2 Knockout HeLa Cell Line | EDJ-KQ35918 | Human | 132789 | Details Get a Quote |
| GNPDA2 Knockout A-549 Cell Line | EDJ-KQ34674 | Human | 132789 | Details Get a Quote |
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