AGXT2 (alanine--glyoxylate aminotransferase 2)
Gene | |
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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64902 |
Gene name
Gene Name - the full gene name approved by the HGNC.
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Alanine--glyoxylate aminotransferase 2 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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AGXT2 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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AGT2, BAIBA, DAIBAT |
Chromosome
Chromosome number
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5 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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5p13.2 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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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.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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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
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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.
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