Gene Gene information from NCBI Gene database.
Entrez ID 64902
Gene name Alanine--glyoxylate aminotransferase 2
Gene symbol AGXT2
Synonyms (NCBI Gene)
AGT2BAIBADAIBAT
Chromosome 5
Chromosome location 5p13.2
Summary 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.
1
SNP ID Visualize variation Clinical significance Consequence
rs37369 C>T Affects Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
159
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IDA 20018850, 24586340, 31818439
GO:0005739 Component Mitochondrion IEA
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612471 14412 ENSG00000113492
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Beta-aminoisobutyric acid, urinary excretion of Uncertain significance; Affects ClinVar
ClinVar, Disgenet
ClinVar, Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
BETA-AMINOISOBUTYRIC ACIDURIA HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBRAL INFARCTION Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arteriosclerosis Arteriosclerosis BEFREE 25620171
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 25620171
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 26984639
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation Atrial fibrillation Pubtator 26984639 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma Renal Cell Renal cell carcinoma Pubtator 37657024 Associate
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 24186881, 25245031, 27423328, 28970090
★☆☆☆☆
Found in Text Mining only
Cerebral Infarction Ischemic stroke Pubtator 26984639 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident Stroke BEFREE 25245031
★☆☆☆☆
Found in Text Mining only
Chronic heart failure Heart Failure BEFREE 27423328, 28942034
★☆☆☆☆
Found in Text Mining only
Chronic Kidney Diseases Kidney Disease BEFREE 29982953
★☆☆☆☆
Found in Text Mining only