AlphaFold predicted structure
TARS2 · Q9BW92
Mean pLDDT
91.1/ 100
Very high
718 residues
Confidence breakdown
- Very high(≥ 90)83%
- Confident(70–90)10%
- Low(50–70)2%
- Very low(< 50)5%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
TARS2
Chr 1q21.2threonyl-tRNA synthetase 2, mitochondrial
- Aliases:
- FLJ12528
- MANE:
- ENST00000369064.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalPossible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomalNeonatal diabetes
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
Combined oxidative phosphorylation defect type 21
0.77neurodegenerative disease
0.56Parkinson disease
0.50lysosomal storage disease
0.50multiple sclerosis
0.50Alzheimer disease
0.50autoimmune disorder of central nervous system
0.46inborn mitochondrial metabolism disorder
0.37mitochondrial disease
0.37combined oxidative phosphorylation deficiency
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Threonine--tRNA ligase, mitochondrial
Catalyzes the attachment of threonine to tRNA(Thr) in a two-step reaction: threonine is first activated by ATP to form Thr-AMP and then transferred to the acceptor end of tRNA(Thr). Also edits incorrectly charged tRNA(Thr) via its editing domain
Diseases associated with TARS2
Curated MONDO disease pages that list TARS2 among their top associated genes.