GOT2

Chr 16q21

glutamic-oxaloacetic transaminase 2

Aliases:: mitAAT, KATIV, KAT4, KYAT4, mAspAT
MANE:: ENST00000245206.10

OMIM: 138150 ↗NCBI: 2806 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

GOT2 · P00505

v62025-08-01

Predicted Aligned Error matrix for GOT2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

94.3/ 100

Very high

430 residues

Confidence breakdown

Very high(≥ 90)91%
Confident(70–90)3%
Low(50–70)2%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

genetic developmental and epileptic encephalopathy
0.62
developmental and epileptic encephalopathy
0.39
Encephalopathy
0.37
neurodegenerative disease
0.36
alcohol drinking
0.33
bacterial arthritis
0.26
malignant epithelial tumor of ovary
0.26
foot fracture
0.22
lagophthalmos
0.22
anaphylaxis
0.21

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Aspartate aminotransferase, mitochondrial

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 metabolite exchange between mitochondria and cytosol, and for amino acid metabolism. Facilitates cellular uptake of long-chain free fatty acids