GOT2
Aspartate aminotransferase, mitochondrial
Also known as: AATM_HUMAN, KAT4, KATIV, KYAT4, mitAAT
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P00505
- Gene
- GOT2
- Ensembl
- ENSG00000125166
- Chromosome
- 16
- Canonical length
- 430 aa
- Protein class
- Cancer-related genes, Candidate cardiovascular disease genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Transporters
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
430 residues, UniProt reviewed canonical sequence.
>P00505|GOT2
1 MALLHSGRVL PGIAAAFHPG LAAAASARAS SWWTHVEMGP PDPILGVTEA FKRDTNSKKM
61 NLGVGAYRDD NGKPYVLPSV RKAEAQIAAK NLDKEYLPIG GLAEFCKASA ELALGENSEV
121 LKSGRFVTVQ TISGTGALRI GASFLQRFFK FSRDVFLPKP TWGNHTPIFR DAGMQLQGYR
181 YYDPKTCGFD FTGAVEDISK IPEQSVLLLH ACAHNPTGVD PRPEQWKEIA TVVKKRNLFA
241 FFDMAYQGFA SGDGDKDAWA VRHFIEQGIN VCLCQSYAKN MGLYGERVGA FTMVCKDADE
301 AKRVESQLKI LIRPMYSNPP LNGARIAAAI LNTPDLRKQW LQEVKVMADR IIGMRTQLVS
361 NLKKEGSTHN WQHITDQIGM FCFTGLKPEQ VERLIKEFSI YMTKDGRISV AGVTSSNVGY
421 LAHAIHQVTKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GOT2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.27
- Highest tissue expression
- 679 nTPM
Expression across tissuesHPA
Tissue
- tongue: 679 nTPM
- skeletal muscle: 654 nTPM
- liver: 301 nTPM
- heart muscle: 298 nTPM
- choroid plexus: 206 nTPM
- parathyroid gland: 93 nTPM
Single-cell type
- retinal pigment epithelial cells: 294 nCPM
- hepatocytes: 211 nCPM
- urothelial cells: 148 nCPM
- esophageal basal cells: 137 nCPM
- esophageal suprabasal cells: 125 nCPM
- parietal cells: 117 nCPM
Immune cell
- T-reg: 49 nTPM
- MAIT T-cell: 44 nTPM
- myeloid DC: 35 nTPM
- memory CD8 T-cell: 34 nTPM
- memory CD4 T-cell: 33 nTPM
- total PBMC: 31 nTPM
Brain region
- choroid plexus: 231 nTPM
- cerebral cortex: 90 nTPM
- cerebellum: 86 nTPM
- pons: 85 nTPM
- medulla oblongata: 83 nTPM
- white matter: 81 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GOT2.
Disease | AllUniProt
Conditions GOT2 is implicated in, by any mechanism.
- Developmental and epileptic encephalopathy 82 (DEE82) MIM:618721
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 163 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Developmental and epileptic encephalopathy
- Developmental and epileptic encephalopathy, 82
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.62
- gnomAD pLI
- 0.01
- gnomAD missense Z
- 1.39
- DepMap mean gene effect
- -0.39
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- 2-oxoglutarate metabolic process
- aspartate biosynthetic process
- aspartate metabolic process
- fatty acid transport
- glutamate metabolic process
- L-aspartate catabolic process
- L-glutamate catabolic process to aspartate
- malate-aspartate shuttle
- oxaloacetate metabolic process
- response to ethanol
- trans-4-hydroxy-L-proline catabolic process
Molecular functions
- kynurenine-oxoglutarate transaminase activity
- L-aspartate:2-oxoglutarate aminotransferase activity
- pyridoxal phosphate binding
- RNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Aspartate/other aminotransferase
- Aminotransferases, class-I, pyridoxal-phosphate-binding site
- Aminotransferase, class I/classII, large domain
- Pyridoxal phosphate-dependent transferase, major domain
- Pyridoxal phosphate-dependent transferase, small domain
- Pyridoxal phosphate-dependent transferase
- Aminotransferase class I and II
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GOT2 as an antibody target. Whether an autoantibody or antibody against GOT2 could matter depends on whether native GOT2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GOT2 is annotated at the cell surface, where native GOT2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label GOT2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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