GOT2 (glutamic-oxaloacetic transaminase 2)

Gene

• Entrez ID: 2806
• Gene name: Glutamic-oxaloacetic transaminase 2
• Gene symbol: GOT2
• Synonyms: DEE82, KAT4, KATIV, KYAT4, mitAAT
• Chromosome: 16
• Chromosome location: 16q21
• Summary: Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and inner-membrane mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs752927520	G>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1247507359	G>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1473654961	GAA>-	Pathogenic, likely-pathogenic	Inframe deletion, coding sequence variant
rs1597696047	C>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT038877	hsa-miR-93-3p	CLASH	23622248
MIRT041650	hsa-miR-484	CLASH	23622248
MIRT043698	hsa-miR-342-3p	CLASH	23622248
MIRT048281	hsa-miR-196a-5p	CLASH	23622248
MIRT049202	hsa-miR-92a-3p	CLASH	23622248
MIRT050779	hsa-miR-17-3p	CLASH	23622248
MIRT051208	hsa-miR-16-5p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22681889
GO:0004069	Function	L-aspartate:2-oxoglutarate aminotransferase activity	IBA	21873635
GO:0004069	Function	L-aspartate:2-oxoglutarate aminotransferase activity	IDA	2182221, 2567216, 2731362
GO:0004069	Function	L-aspartate:2-oxoglutarate aminotransferase activity	ISS
GO:0005543	Function	Phospholipid binding	IEA
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	9537447
GO:0005739	Component	Mitochondrion	ISS
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005886	Component	Plasma membrane	IDA	9537447
GO:0006094	Process	Gluconeogenesis	TAS
GO:0006103	Process	2-oxoglutarate metabolic process	ISS
GO:0006107	Process	Oxaloacetate metabolic process	IEA
GO:0006531	Process	Aspartate metabolic process	ISS
GO:0006532	Process	Aspartate biosynthetic process	IEA
GO:0006533	Process	Aspartate catabolic process	IBA	21873635
GO:0006533	Process	Aspartate catabolic process	IDA	2567216
GO:0006536	Process	Glutamate metabolic process	ISS
GO:0007565	Process	Female pregnancy	IEA
GO:0007595	Process	Lactation	IEA
GO:0008652	Process	Cellular amino acid biosynthetic process	TAS
GO:0009986	Component	Cell surface	IEA
GO:0014850	Process	Response to muscle activity	IEA
GO:0015908	Process	Fatty acid transport	IEP	9537447
GO:0016212	Function	Kynurenine-oxoglutarate transaminase activity	IEA
GO:0016597	Function	Amino acid binding	IEA
GO:0019470	Process	4-hydroxyproline catabolic process	TAS	21998747
GO:0019550	Process	Glutamate catabolic process to aspartate	IEA
GO:0019551	Process	Glutamate catabolic process to 2-oxoglutarate	IEA
GO:0019899	Function	Enzyme binding	IEA
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0030315	Component	T-tubule	IEA
GO:0032868	Process	Response to insulin	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0043278	Process	Response to morphine	IEA
GO:0045471	Process	Response to ethanol	IDA	9537447
GO:0046487	Process	Glyoxylate metabolic process	TAS
GO:0070062	Component	Extracellular exosome	HDA	20458337, 23533145
GO:0097052	Process	L-kynurenine metabolic process	IEA

Other IDs

• MIM: 138150
• HGNC: 4433
• e!Ensembl: ENSG00000125166

Protein

• UniProt ID: P00505
• Protein name: Aspartate aminotransferase, mitochondrial (mAspAT) (EC 2.6.1.1) (EC 2.6.1.7) (Fatty acid-binding protein) (FABP-1) (Glutamate oxaloacetate transaminase 2) (Kynurenine aminotransferase 4) (Kynurenine aminotransferase IV) (Kynurenine--oxoglutarate transaminase 4) (Kynurenine--oxoglutarate transaminase IV) (Plasma membrane-associated fatty acid-binding protein) (FABPpm) (Transaminase A)
• Protein function: Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). As a member of the malate-aspartate shuttle, it has a key role in the intracellular NAD(H) redox balance. Is important for metabolite exchange between mitochondria and cytosol, and for amino acid metabolism. Facilitates cellular uptake of long-chain free fatty acids.
• PDB: 5AX8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00155	Aminotran_1_2	57 → 425	Aminotransferase class I and II	Domain

• Sequence:

  MALLHSGRVLPGIAAAFHPGLAAAASARASSWWTHVEMGPPDPILGVTEAFKRDTNSKKM
  NLGVGAYRDDNGKPYVLPSVRKAEAQIAAKNLDKEYLPIGGLAEFCKASAELALGENSEV
  LKSGRFVTVQTISGTGALRIGASFLQRFFKFSRDVFLPKPTWGNHTPIFRDAGMQLQGYR
  YYDPKTCGFDFTGAVEDISKIPEQSVLLLHACAHNPTGVDPRPEQWKEIATVVKKRNLFA
  FFDMAYQGFASGDGDKDAWAVRHFIEQGINVCLCQSYAKNMGLYGERVGAFTMVCKDADE
  AKRVESQLKILIRPMYSNPPLNGARIAAAILNTPDLRKQWLQEVKVMADRIIGMRTQLVS
  NLKKEGSTHNWQHITDQIGMFCFTGLKPEQVERLIKEFSIYMTKDGRISVAGVTSSNVGY
  LAHAIHQVTK

• Sequence length: 430