Gene Gene information from NCBI Gene database.
Entrez ID 2806
Gene name Glutamic-oxaloacetic transaminase 2
Gene symbol GOT2
Synonyms (NCBI Gene)
DEE82KAT4KATIVKYAT4mitAAT
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 cycl
SNPs SNP information provided by dbSNP.
4
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 miRNA information provided by mirtarbase database.
409
miRTarBase ID miRNA Experiments Reference
MIRT051208 hsa-miR-16-5p CLASH 23622248
MIRT051208 hsa-miR-16-5p CLASH 23622248
MIRT050779 hsa-miR-17-3p CLASH 23622248
MIRT049202 hsa-miR-92a-3p CLASH 23622248
MIRT048281 hsa-miR-196a-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22681889
GO:0003824 Function Catalytic activity IEA
GO:0004069 Function L-aspartate:2-oxoglutarate aminotransferase activity IBA
GO:0004069 Function L-aspartate:2-oxoglutarate aminotransferase activity IDA 2182221, 2567216, 2731362
GO:0004069 Function L-aspartate:2-oxoglutarate aminotransferase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
138150 4433 ENSG00000125166
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 transamin
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 metabol
PDB 5AX8 , 8SKR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00155 Aminotran_1_2 57 425 Aminotransferase class I and II Domain
Sequence
Sequence length 430
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
27
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental and epileptic encephalopathy Likely pathogenic rs1597696047, rs1247507359, rs752927520, rs1473654961 RCV000851528
RCV000851526
RCV000851527
RCV000851525
Developmental and epileptic encephalopathy, 82 Likely pathogenic rs1597696047, rs1247507359, rs752927520, rs1473654961 RCV000984859
RCV000984857
RCV000984858
RCV000984860
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
GOT2-related disorder Uncertain significance; Benign rs149988435, rs11076256, rs139235307, rs112943773, rs78784246 RCV004758836
RCV004758860
RCV004758875
RCV003936491
RCV004758770
Lung cancer Likely benign rs376729149 RCV005926452
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 25212385
Amyotrophic lateral sclerosis 1 Associate 34194442
Brain Injuries Traumatic Stimulate 29717219
Carcinoma Hepatocellular Associate 31943856, 35286894, 38025761
Carcinoma Non Small Cell Lung Associate 36575008
Cardiomyopathies Associate 25212385
Charcot Marie Tooth Disease Associate 29940944
Chronic Kidney Disease Mineral and Bone Disorder Associate 28784837
Colorectal Neoplasms Associate 23826253, 24762493, 36033394
Developmental Disabilities Associate 37977948