Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2806
Gene name Gene Name - the full gene name approved by the HGNC.
Glutamic-oxaloacetic transaminase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GOT2
Synonyms (NCBI Gene) Gene synonyms aliases
DEE82, KAT4, KATIV, KYAT4, mitAAT
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q21
Summary Summary of gene provided in NCBI Entrez 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 cycl
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
138150 4433 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 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Developmental And Epileptic Encephalopathy Developmental and epileptic encephalopathy, 82 rs1247507359, rs752927520, rs1473654961, rs1597696047 N/A
Epileptic Encephalopathy early infantile epileptic encephalopathy with suppression bursts rs752927520, rs1473654961, rs1597696047, rs1247507359 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Plasma anastrozole concentration in anastrozole-treated estrogen receptor positive breast cancer N/A N/A GWAS
Associations from Text Mining Disease 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