Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64902
Gene name Gene Name - the full gene name approved by the HGNC.
Alanine--glyoxylate aminotransferase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AGXT2
Synonyms (NCBI Gene) Gene synonyms aliases
AGT2, BAIBA, DAIBAT
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5p13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 i
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs37369 C>T Affects Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019037 hsa-miR-335-5p Microarray 18185580
MIRT696668 hsa-miR-606 HITS-CLIP 23313552
MIRT682038 hsa-miR-3929 HITS-CLIP 23313552
MIRT682037 hsa-miR-4419b HITS-CLIP 23313552
MIRT682036 hsa-miR-4478 HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion IDA 20018850, 24586340
GO:0005759 Component Mitochondrial matrix TAS
GO:0008453 Function Alanine-glyoxylate transaminase activity IDA 20018850, 24586340
GO:0009436 Process Glyoxylate catabolic process IBA 21873635
GO:0009436 Process Glyoxylate catabolic process IDA 20018850
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612471 14412 ENSG00000113492
Protein
UniProt ID Q9BYV1
Protein name Alanine--glyoxylate aminotransferase 2, mitochondrial (AGT 2) (EC 2.6.1.44) ((R)-3-amino-2-methylpropionate--pyruvate transaminase) (EC 2.6.1.40) (Beta-ALAAT II) (Beta-alanine-pyruvate aminotransferase) (EC 2.6.1.18) (D-3-aminoisobutyrate-pyruvate aminotr
Protein function Multifunctional aminotransferase with a broad substrate specificity (PubMed:20018850, PubMed:23023372, PubMed:24586340). Catalyzes the conversion of glyoxylate to glycine using alanine as the amino donor (By similarity). Catalyzes metabolism of
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00202 Aminotran_3 79 505 Aminotransferase class-III Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the convoluted tubule in the kidney and in the liver hepatocytes (at protein level). {ECO:0000269|PubMed:31818439}.
Sequence
Sequence length 514
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Associations from Text Mining
Disease Name Relationship Type References
Atrial Fibrillation Associate 26984639
Carcinoma Renal Cell Associate 37657024
Cerebral Infarction Associate 26984639
Coronary Disease Associate 24834905
Diabetes Mellitus Associate 24834905, 35961823
Hypertension Associate 33879046
Ketosis Associate 28569194
Myotonic Dystrophy Associate 33879046
Stroke Associate 25245031
Thromboembolism Associate 26984639