GLUD2: Glutamate Dehydrogenase 2
Mitochondrial enzyme involved in glutamate metabolism and neurotransmission
Gene Information Card
| Symbol | GLUD2 |
|---|---|
| Full Name | Glutamate Dehydrogenase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq24 |
| NCBI Gene ID | 2747 ncbi.nlm.nih.gov/gene/2747 |
| Ensembl ID | ENSG00000169083 |
| UniProt ID | P49448 |
| OMIM ID | 300144 |
| HGNC ID | 4336 |
| Aliases | GDH2, GLUD1P, GLUD1L |
Description
GLUD2 encodes glutamate dehydrogenase 2, a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia, using NAD+ or NADP+ as cofactor. This enzyme is primarily expressed in neural and testicular tissues and plays a key role in glutamate metabolism, neurotransmitter recycling, and energy homeostasis. GLUD2 is a retroposed copy of GLUD1 and is unique to primates.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Parkinson disease | Altered glutamate metabolism and mitochondrial dysfunction may contribute to neurodegeneration | PMID: 19667044 |
| Autism spectrum disorder | Variants in GLUD2 have been associated with altered glutamatergic signaling | PMID: 23375656 |
| Epilepsy | Dysregulation of glutamate dehydrogenase activity can affect neurotransmitter balance | PMID: 15987638 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Retina | 6.1 | Low |
| Kidney | 2.4 | Low |
| Liver | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuroblastoma cell line |
| U-87 MG | 10.8 | Glioblastoma cell line |
| HEK 293 | 3.5 | Embryonic kidney cells |
| HepG2 | 1.2 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1492C>T (p.Arg498Cys) | Missense | 0.01% | Reduced enzyme activity; associated with Parkinson disease |
| c.1090G>A (p.Gly364Ser) | Missense | 0.005% | Altered substrate specificity; linked to autism |
| c.1516G>A (p.Gly506Arg) | Missense | 0.002% | Decreased thermal stability; reported in epilepsy |
Mutation functional classification
Loss of Function (LOF)
p.Arg498Cys reduces catalytic efficiency and enzyme stability
Gain of Function (GOF)
No confirmed gain-of-function mutations reported
Dominant Negative (DN)
Not established for GLUD2
View complete mutation data：
Gene Ontology (GO)
| • glutamate dehydrogenase (NAD+) activity (GO:0004352) | • glutamate dehydrogenase (NADP+) activity (GO:0004353) |
| • mitochondrion (GO:0005739) | • glutamate catabolic process (GO:0006537) |
| • oxidation-reduction process (GO:0055114) |
Pathways
• KEGG hsa00250: Alanine
• aspartate and glutamate metabolism
• KEGG hsa00330: Arginine and proline metabolism
• Reactome R-HSA-210500: Glutamate and glutamine metabolism
Protein Summary
Glutamate dehydrogenase 2 (GDH2) is a 558-amino acid mitochondrial enzyme that catalyzes the reversible conversion of glutamate to alpha-ketoglutarate and ammonia. It is expressed predominantly in neural tissues and testis, where it regulates glutamate levels and supports energy metabolism. GDH2 is allosterically regulated by ADP and GTP, and its activity is critical for neurotransmitter recycling and ammonia detoxification. Mutations in GLUD2 have been linked to neurodegenerative and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GLUD2 Knockout HEK293 Cell Line | EDJ-KQ4724 | Human | 2747 | Details Get a Quote |
| GLUD2 Knockout A-549 Cell Line | EDJ-KQ27454 | Human | 2747 | Details Get a Quote |
| GLUD2 Knockout HCT 116 Cell Line | EDJ-KQ27455 | Human | 2747 | Details Get a Quote |
| GLUD2 Knockout HeLa Cell Line | EDJ-KQ53360 | Human | 2747 | Details Get a Quote |
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