AGXT2 Gene Summary [Human]
The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. It is an important regulator of methylarginines and is involved in the control of blood pressure in kidney. Polymorphisms in this gene affect methylarginine and beta-aminoisobutyrate metabolism, and are associated with carotid atherosclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Details
| Type | Protein Coding |
| Official Symbol | AGXT2 |
| Official Name | alanine--glyoxylate aminotransferase 2 [Source:HGNC Symbol;Acc:HGNC:14412] |
| Ensembl ID | ENSG00000113492 |
| Bio databases IDs | |
| Aliases | alanine--glyoxylate aminotransferase 2, beta-alanine-pyruvate aminotransferase, beta-ALAAT II |
| Synonyms | AGT2, AI303810, AI663818, alanine--glyoxylate aminotransferase 2, BAIBA, DAIBAT |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human AGXT2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- (R)-3-amino-2-methylpropionate-pyruvate transaminase
- adenosylmethionine-8-amino-7-oxononanoate transaminase
- 4-aminobutyrate aminotransferase, eukaryotic type
- Aminotransferase class-III
- succinylornithine transaminase family
- transaminase, acetylornithine/succinylornithine family
- AAT_I
- enzyme
- beta-alanine-pyruvate transaminase
- alanine-glyoxylate transaminase
- ornithine aminotransferase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- cognitive impairment
- liver cancer
- disease-free survival
- hepatocellular carcinoma
- beta-aminoisobutyric aciduria
- overall survival
- hypertension
- renal clear cell adenocarcinoma
- renal clear cell cancer
regulates
- nitric oxide
- N,N-dimethylarginine
- glyoxylic acid
- glycine
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AGXT2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- L-alanine catabolic process, by transamination
- positive regulation of nitric oxide biosynthetic process
- glycine biosynthetic process, by transamination of glyoxylate
- N(omega),N(omega)-dimethyl-L-arginine catabolic process
- glyoxylate catabolic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- pyridoxal phosphate binding
- (R)-3-amino-2-methylpropionate-pyruvate transaminase activity
- alanine-glyoxylate transaminase activity
- beta-alanine-pyruvate transaminase activity