AGXT2 (alanine--glyoxylate aminotransferase 2)

Gene

• Entrez ID: 64902
• Gene name: Alanine--glyoxylate aminotransferase 2
• Gene symbol: AGXT2
• Synonyms: AGT2, BAIBA, DAIBAT
• 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 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs37369	C>T	Affects	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019037	hsa-miR-335-5p	Microarray	18185580
MIRT682022	hsa-miR-665	HITS-CLIP	23706177
MIRT682022	hsa-miR-665	HITS-CLIP	23313552
MIRT682023	hsa-miR-3162-5p	HITS-CLIP	23706177
MIRT682023	hsa-miR-3162-5p	HITS-CLIP	23313552
MIRT682024	hsa-miR-6735-3p	HITS-CLIP	23706177
MIRT682024	hsa-miR-6735-3p	HITS-CLIP	23313552
MIRT682025	hsa-miR-7160-5p	HITS-CLIP	23706177
MIRT682025	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT682026	hsa-miR-4722-5p	HITS-CLIP	23706177
MIRT682026	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT682027	hsa-miR-6884-5p	HITS-CLIP	23706177
MIRT682027	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT682028	hsa-miR-485-5p	HITS-CLIP	23706177
MIRT682028	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT682029	hsa-miR-1827	HITS-CLIP	23706177
MIRT682029	hsa-miR-1827	HITS-CLIP	23313552
MIRT682030	hsa-miR-4649-3p	HITS-CLIP	23706177
MIRT682030	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT682031	hsa-miR-4768-3p	HITS-CLIP	23706177
MIRT682031	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT682032	hsa-miR-4756-5p	HITS-CLIP	23706177
MIRT682032	hsa-miR-4756-5p	HITS-CLIP	23313552
MIRT682033	hsa-miR-4739	HITS-CLIP	23706177
MIRT682033	hsa-miR-4739	HITS-CLIP	23313552
MIRT682034	hsa-miR-1321	HITS-CLIP	23706177
MIRT682034	hsa-miR-1321	HITS-CLIP	23313552
MIRT682035	hsa-miR-6760-5p	HITS-CLIP	23706177
MIRT682035	hsa-miR-6760-5p	HITS-CLIP	23313552
MIRT682036	hsa-miR-4478	HITS-CLIP	23706177
MIRT682036	hsa-miR-4478	HITS-CLIP	23313552
MIRT682037	hsa-miR-4419b	HITS-CLIP	23706177
MIRT682037	hsa-miR-4419b	HITS-CLIP	23313552
MIRT682038	hsa-miR-3929	HITS-CLIP	23706177
MIRT682038	hsa-miR-3929	HITS-CLIP	23313552
MIRT682039	hsa-miR-940	HITS-CLIP	23706177
MIRT682039	hsa-miR-940	HITS-CLIP	23313552
MIRT682040	hsa-miR-6893-5p	HITS-CLIP	23706177
MIRT682040	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT682041	hsa-miR-6808-5p	HITS-CLIP	23706177
MIRT682041	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT696632	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT696633	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT696634	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT696635	hsa-miR-3122	HITS-CLIP	23313552
MIRT696636	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT696637	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT696638	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT696639	hsa-miR-3689c	HITS-CLIP	23313552
MIRT696640	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT696641	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT696642	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT696643	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT696644	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT696645	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT696646	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT696647	hsa-miR-6864-3p	HITS-CLIP	23313552
MIRT696648	hsa-miR-3672	HITS-CLIP	23313552
MIRT696649	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT696650	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT696651	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT696652	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT696653	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT696654	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT696655	hsa-miR-6089	HITS-CLIP	23313552
MIRT696656	hsa-miR-5186	HITS-CLIP	23313552
MIRT696657	hsa-miR-769-5p	HITS-CLIP	23313552
MIRT696658	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT696659	hsa-miR-4692	HITS-CLIP	23313552
MIRT696660	hsa-miR-4514	HITS-CLIP	23313552
MIRT696661	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT696662	hsa-miR-4459	HITS-CLIP	23313552
MIRT696663	hsa-miR-1288-5p	HITS-CLIP	23313552
MIRT696664	hsa-miR-4461	HITS-CLIP	23313552
MIRT696665	hsa-miR-6511a-5p	HITS-CLIP	23313552
MIRT696666	hsa-miR-1910-3p	HITS-CLIP	23313552
MIRT696667	hsa-miR-6888-5p	HITS-CLIP	23313552
MIRT696668	hsa-miR-606	HITS-CLIP	23313552

Gene ontology (GO)

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
GO:0019265	Process	Glycine biosynthetic process, by transamination of glyoxylate	IDA	20018850
GO:0019481	Process	L-alanine catabolic process, by transamination	IBA	21873635
GO:0019481	Process	L-alanine catabolic process, by transamination	IDA	20018850
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0045429	Process	Positive regulation of nitric oxide biosynthetic process	IBA	21873635
GO:0045429	Process	Positive regulation of nitric oxide biosynthetic process	IDA	20018850
GO:0046487	Process	Glyoxylate metabolic process	TAS
GO:0047305	Function	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity	IEA

Other IDs

• MIM: 612471
• HGNC: 14412
• e!Ensembl: 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) (D-AIBAT)
• Protein function: Can metabolize asymmetric dimethylarginine (ADMA) via transamination to alpha-keto-delta-(NN-dimethylguanidino) valeric acid (DMGV). ADMA is a potent inhibitor of nitric-oxide (NO) synthase, and this activity provides mechanism through which the kidney regulates blood pressure.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00202	Aminotran_3	79 → 505	Aminotransferase class-III	Domain

• Sequence:

  MTLIWRHLLRPLCLVTSAPRILEMHPFLSLGTSRTSVTKLSLHTKPRMPPCDFMPERYQS
  LGYNRVLEIHKEHLSPVVTAYFQKPLLLHQGHMEWLFDAEGSRYLDFFSGIVTVSVGHCH
  PKVNAVAQKQLGRLWHTSTVFFHPPMHEYAEKLAALLPEPLKVIFLVNSGSEANELAMLM
  ARAHSNNIDIISFRGAYHGCSPYTLGLTNVGTYKMELPGGTGCQPTMCPDVFRGPWGGSH
  CRDSPVQTIRKCSCAPDCCQAKDQYIEQFKDTLSTSVAKSIAGFFAEPIQGVNGVVQYPK
  GFLKEAFELVRARGGVCIADEVQTGFGRLGSHFWGFQTHDVLPDIVTMAKGIGNGFPMAA
  VITTPEIAKSLAKCLQHFNTFGGNPMACAIGSAVLEVIKEENLQENSQEVGTYMLLKFAK
  LRDEFEIVGDVRGKGLMIGIEMVQDKISCRPLPREEVNQIHEDCKHMGLLVGRGSIFSQT
  FRIAPSMCITKPEVDFAVEVFRSALTQHMERRAK

• Sequence length: 514