AGXT2: Alanine—Glyoxylate Aminotransferase 2
A key enzyme in glyoxylate and amino acid metabolism, implicated in primary hyperoxaluria and cardiovascular risk.
Gene Information Card
| Symbol | AGXT2 |
|---|---|
| Full Name | Alanine—glyoxylate aminotransferase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q35.3 |
| NCBI Gene ID | 64902 ncbi.nlm.nih.gov/gene/64902 |
| Ensembl ID | ENSG00000113492 |
| UniProt ID | Q9BYV1 |
| OMIM ID | 612591 |
| HGNC ID | 20287 |
| Aliases | AGT2, DAKT1, D-beta-hydroxybutyrate aminotransferase |
Description
AGXT2 encodes alanine—glyoxylate aminotransferase 2, a mitochondrial enzyme that catalyzes the transamination of glyoxylate to glycine using alanine as the amino donor. It also metabolizes D-beta-hydroxybutyrate and other amino acids. The enzyme plays a critical role in glyoxylate detoxification; deficiency leads to accumulation of oxalate and contributes to primary hyperoxaluria type II. AGXT2 polymorphisms are associated with altered plasma levels of asymmetric dimethylarginine (ADMA) and cardiovascular disease risk.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary hyperoxaluria type II | Loss-of-function mutations in AGXT2 reduce glyoxylate transamination, leading to oxalate overproduction and calcium oxalate kidney stones. | ClinVar, OMIM |
| Cardiovascular disease | AGXT2 variants (e.g., rs37369) affect ADMA metabolism, influencing endothelial function and hypertension risk. | NCBI, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Heart | 4.1 | Low |
| Skeletal muscle | 2.0 | Low |
| Brain | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocyte line |
| HEK293 | 6.8 | Embryonic kidney |
| A549 | 3.5 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.506G>A (p.Arg169His) | Missense | Rare | Reduced enzyme activity; associated with hyperoxaluria |
| c.1240C>T (p.Arg414Cys) | Missense | Rare | Loss of function; linked to primary hyperoxaluria type II |
| rs37369 (c.1240C>T) | SNP | Common (5-10% in Europeans) | Alters ADMA metabolism; cardiovascular risk |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg169His, p.Arg414Cys) reduce or abolish transaminase activity, leading to glyoxylate accumulation and oxalate overproduction.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; AGXT2 functions as a homodimer, but dominant-negative effects have not been documented.
View complete mutation data：
Gene Ontology (GO)
| • GO:0008453 - alanine-glyoxylate transaminase activity | • GO:0005739 - mitochondrion |
| • GO:0006520 - cellular amino acid metabolic process | • GO:0009437 - carnitine metabolic process |
| • GO:0052653 - D-beta-hydroxybutyrate aminotransferase activity |
Pathways
• Glyoxylate and dicarboxylate metabolism (KEGG: hsa00630)
• Arginine and proline metabolism (KEGG: hsa00330)
• Metabolism of amino acids and derivatives (Reactome: R-HSA-71291)
Protein Summary
AGXT2 is a 514-amino acid mitochondrial aminotransferase that converts glyoxylate to glycine, preventing oxalate formation. It also transaminates D-beta-hydroxybutyrate and other substrates. The enzyme is a homodimer requiring pyridoxal phosphate as a cofactor. Mutations cause primary hyperoxaluria type II, and common variants modulate ADMA levels, impacting cardiovascular health.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGXT2 Knockout HEK293 Cell Line | EDJ-KQ12316 | Human | 64902 | Details Get a Quote |
| AGXT2 Knockout HeLa Cell Line | EDJ-KQ57092 | Human | 64902 | Details Get a Quote |
| AGXT2 Knockout A-549 Cell Line | EDJ-KQ65604 | Human | 64902 | Details Get a Quote |
| AGXT2 Knockout HCT 116 Cell Line | EDJ-KQ74032 | Human | 64902 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
