Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
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

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

159

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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
MIRT682035	hsa-miR-6760-5p	HITS-CLIP	23313552
MIRT682034	hsa-miR-1321	HITS-CLIP	23313552
MIRT682033	hsa-miR-4739	HITS-CLIP	23313552
MIRT682032	hsa-miR-4756-5p	HITS-CLIP	23313552
MIRT682030	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT682028	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT682027	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT682026	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT682025	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT682024	hsa-miR-6735-3p	HITS-CLIP	23313552
MIRT682023	hsa-miR-3162-5p	HITS-CLIP	23313552
MIRT682022	hsa-miR-665	HITS-CLIP	23313552
MIRT696667	hsa-miR-6888-5p	HITS-CLIP	23313552
MIRT696666	hsa-miR-1910-3p	HITS-CLIP	23313552
MIRT696665	hsa-miR-6511a-5p	HITS-CLIP	23313552
MIRT682041	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT682040	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT682039	hsa-miR-940	HITS-CLIP	23313552
MIRT696664	hsa-miR-4461	HITS-CLIP	23313552
MIRT696663	hsa-miR-1288-5p	HITS-CLIP	23313552
MIRT682031	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT696662	hsa-miR-4459	HITS-CLIP	23313552
MIRT696661	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT696660	hsa-miR-4514	HITS-CLIP	23313552
MIRT696659	hsa-miR-4692	HITS-CLIP	23313552
MIRT696658	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT696657	hsa-miR-769-5p	HITS-CLIP	23313552
MIRT696656	hsa-miR-5186	HITS-CLIP	23313552
MIRT682029	hsa-miR-1827	HITS-CLIP	23313552
MIRT696655	hsa-miR-6089	HITS-CLIP	23313552
MIRT696654	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT696653	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT696652	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT696651	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT696650	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT696649	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT696648	hsa-miR-3672	HITS-CLIP	23313552
MIRT696647	hsa-miR-6864-3p	HITS-CLIP	23313552
MIRT696646	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT696645	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT696644	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT696643	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT696642	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT696641	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT696640	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT696639	hsa-miR-3689c	HITS-CLIP	23313552
MIRT696638	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT696637	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT696636	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT696635	hsa-miR-3122	HITS-CLIP	23313552
MIRT696634	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT696633	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT696632	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT682041	hsa-miR-6808-5p	HITS-CLIP	23706177
MIRT682040	hsa-miR-6893-5p	HITS-CLIP	23706177
MIRT682039	hsa-miR-940	HITS-CLIP	23706177
MIRT682038	hsa-miR-3929	HITS-CLIP	23706177
MIRT682037	hsa-miR-4419b	HITS-CLIP	23706177
MIRT682036	hsa-miR-4478	HITS-CLIP	23706177
MIRT682035	hsa-miR-6760-5p	HITS-CLIP	23706177
MIRT682034	hsa-miR-1321	HITS-CLIP	23706177
MIRT682033	hsa-miR-4739	HITS-CLIP	23706177
MIRT682032	hsa-miR-4756-5p	HITS-CLIP	23706177
MIRT682031	hsa-miR-4768-3p	HITS-CLIP	23706177
MIRT682030	hsa-miR-4649-3p	HITS-CLIP	23706177
MIRT682029	hsa-miR-1827	HITS-CLIP	23706177
MIRT682028	hsa-miR-485-5p	HITS-CLIP	23706177
MIRT682027	hsa-miR-6884-5p	HITS-CLIP	23706177
MIRT682026	hsa-miR-4722-5p	HITS-CLIP	23706177
MIRT682025	hsa-miR-7160-5p	HITS-CLIP	23706177
MIRT682024	hsa-miR-6735-3p	HITS-CLIP	23706177
MIRT682023	hsa-miR-3162-5p	HITS-CLIP	23706177
MIRT682022	hsa-miR-665	HITS-CLIP	23706177
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
MIRT682035	hsa-miR-6760-5p	HITS-CLIP	23313552
MIRT682034	hsa-miR-1321	HITS-CLIP	23313552
MIRT682033	hsa-miR-4739	HITS-CLIP	23313552
MIRT682032	hsa-miR-4756-5p	HITS-CLIP	23313552
MIRT682030	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT682028	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT682027	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT682026	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT682025	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT682024	hsa-miR-6735-3p	HITS-CLIP	23313552
MIRT682023	hsa-miR-3162-5p	HITS-CLIP	23313552
MIRT682022	hsa-miR-665	HITS-CLIP	23313552
MIRT696667	hsa-miR-6888-5p	HITS-CLIP	23313552
MIRT696666	hsa-miR-1910-3p	HITS-CLIP	23313552
MIRT696665	hsa-miR-6511a-5p	HITS-CLIP	23313552
MIRT682041	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT682040	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT682039	hsa-miR-940	HITS-CLIP	23313552
MIRT696664	hsa-miR-4461	HITS-CLIP	23313552
MIRT696663	hsa-miR-1288-5p	HITS-CLIP	23313552
MIRT682031	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT696662	hsa-miR-4459	HITS-CLIP	23313552
MIRT696661	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT696660	hsa-miR-4514	HITS-CLIP	23313552
MIRT696659	hsa-miR-4692	HITS-CLIP	23313552
MIRT696658	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT696657	hsa-miR-769-5p	HITS-CLIP	23313552
MIRT696656	hsa-miR-5186	HITS-CLIP	23313552
MIRT682029	hsa-miR-1827	HITS-CLIP	23313552
MIRT696655	hsa-miR-6089	HITS-CLIP	23313552
MIRT696654	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT696653	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT696652	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT696651	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT696650	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT696649	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT696648	hsa-miR-3672	HITS-CLIP	23313552
MIRT696647	hsa-miR-6864-3p	HITS-CLIP	23313552
MIRT696646	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT696645	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT696644	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT696643	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT696642	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT696641	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT696640	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT696639	hsa-miR-3689c	HITS-CLIP	23313552
MIRT696638	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT696637	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT696636	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT696635	hsa-miR-3122	HITS-CLIP	23313552
MIRT696634	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT696633	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT696632	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT682041	hsa-miR-6808-5p	HITS-CLIP	23706177
MIRT682040	hsa-miR-6893-5p	HITS-CLIP	23706177
MIRT682039	hsa-miR-940	HITS-CLIP	23706177
MIRT682038	hsa-miR-3929	HITS-CLIP	23706177
MIRT682037	hsa-miR-4419b	HITS-CLIP	23706177
MIRT682036	hsa-miR-4478	HITS-CLIP	23706177
MIRT682035	hsa-miR-6760-5p	HITS-CLIP	23706177
MIRT682034	hsa-miR-1321	HITS-CLIP	23706177
MIRT682033	hsa-miR-4739	HITS-CLIP	23706177
MIRT682032	hsa-miR-4756-5p	HITS-CLIP	23706177
MIRT682031	hsa-miR-4768-3p	HITS-CLIP	23706177
MIRT682030	hsa-miR-4649-3p	HITS-CLIP	23706177
MIRT682029	hsa-miR-1827	HITS-CLIP	23706177
MIRT682028	hsa-miR-485-5p	HITS-CLIP	23706177
MIRT682027	hsa-miR-6884-5p	HITS-CLIP	23706177
MIRT682026	hsa-miR-4722-5p	HITS-CLIP	23706177
MIRT682025	hsa-miR-7160-5p	HITS-CLIP	23706177
MIRT682024	hsa-miR-6735-3p	HITS-CLIP	23706177
MIRT682023	hsa-miR-3162-5p	HITS-CLIP	23706177
MIRT682022	hsa-miR-665	HITS-CLIP	23706177
MIRT773202	hsa-miR-3194-3p	CLIP-seq
MIRT773203	hsa-miR-495	CLIP-seq
MIRT773204	hsa-miR-584	CLIP-seq
MIRT773205	hsa-miR-760	CLIP-seq

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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
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0008453	Function	Alanine-glyoxylate transaminase activity	IBA
GO:0008453	Function	Alanine-glyoxylate transaminase activity	IDA	20018850, 24586340
GO:0008453	Function	Alanine-glyoxylate transaminase activity	IEA
GO:0008483	Function	Transaminase activity	IEA
GO:0009436	Process	Glyoxylate catabolic process	IBA
GO:0009436	Process	Glyoxylate catabolic process	IDA	20018850
GO:0016223	Function	Beta-alanine:pyruvate transaminase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019265	Process	Glycine biosynthetic process, by transamination of glyoxylate	IDA	20018850
GO:0019481	Process	L-alanine catabolic process, by transamination	IBA
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	IDA	20018850
GO:0047305	Function	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity	IDA	24586340
GO:0047305	Function	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity	IEA
GO:2001299	Process	N(omega),N(omega)-dimethyl-L-arginine catabolic process	IEA
GO:2001299	Process	N(omega),N(omega)-dimethyl-L-arginine catabolic process	ISS

MIM	HGNC	e!Ensembl
612471	14412	ENSG00000113492

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

MTLIWRHLLRPLCLVTSAPRILEMHPFLSLGTSRTSVTKLSLHTKPRMPPCDFMPERYQS
LGYNRVLEIHKEHLSPVVTAYFQKPLLLHQGHMEWLFDAEGSRYLDFFSGIVTVSVGHCH
PKVNAVAQKQLGRLWHTSTVFFHPPMHEYAEKLAALLPEPLKVIFLVNSGSEANELAMLM
ARAHSNNIDIISFRGAYHGCSPYTLGLTNVGTYKMELPGGTGCQPTMCPDVFRGPWGGSH
CRDSPVQTIRKCSCAPDCCQAKDQYIEQFKDTLSTSVAKSIAGFFAEPIQGVNGVVQYPK
GFLKEAFELVRARGGVCIADEVQTGFGRLGSHFWGFQTHDVLPDIVTMAKGIGNGFPMAA
VITTPEIAKSLAKCLQHFNTFGGNPMACAIGSAVLEVIKEENLQENSQEVGTYMLLKFAK
LRDEFEIVGDVRGKGLMIGIEMVQDKISCRPLPREEVNQIHEDCKHMGLLVGRGSIFSQT
FRIAPSMCITKPEVDFAVEVFRSALTQHMERRAK

Sequence length

514

Interactions

View interactions

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Beta-aminoisobutyric acid, urinary excretion of	Uncertain significance; Affects	rs1561225393, rs37369	RCV003991822 RCV000490599
Cholangiocarcinoma	Benign; Likely benign	rs114286107	RCV005898166
Clear cell carcinoma of kidney	Benign; Likely benign	rs114286107	RCV005898164
Hepatocellular carcinoma	Benign; Likely benign	rs114286107	RCV005898161
Lymphoma	Benign; Likely benign	rs114286107	RCV005898165
Malignant tumor of esophagus	Benign; Likely benign	rs114286107	RCV005898162
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs114286107	RCV005898163

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Vascular Diseases	Associate	33879046

AGXT2 (alanine--glyoxylate aminotransferase 2)