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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Developmental and epileptic encephalopathy Likely pathogenic rs1597696047, rs1247507359, rs752927520, rs1473654961 RCV000851528
RCV000851526
RCV000851527
RCV000851525
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 82 Likely pathogenic rs1597696047, rs1247507359, rs752927520, rs1473654961 RCV000984859
RCV000984857
RCV000984858
RCV000984860
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82 Disgenet, HPO
Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOT2-related disorder Uncertain significance; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lung cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute pancreatitis Pancreatitis BEFREE 28984785, 29771764
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 8515653
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 29966518
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 21251264
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 15138477
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 29666362
★☆☆☆☆
Found in Text Mining only
Amyotrophic lateral sclerosis 1 Amyotrophic lateral sclerosis Pubtator 34194442 Associate
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 11443220, 17019708, 17465858, 18316577, 9661637
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 29352139
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 18180399, 27778448
★☆☆☆☆
Found in Text Mining only