Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
2806 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Glutamic-oxaloacetic transaminase 2 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
GOT2 |
SynonymsGene synonyms aliases
|
DEE82, KAT4, KATIV, KYAT4, mitAAT |
ChromosomeChromosome number
|
16 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
16q21 |
SummarySummary 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 |
SNPsSNP 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 |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
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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 |