VARS2

Chr 6p21.33

valyl-tRNA synthetase 2, mitochondrial

Aliases:: DKFZP434L1435, KIAA1885, G7a
MANE:: ENST00000676266.1

OMIM: 612802 ↗NCBI: 57176 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

VARS2 · Q5ST30

v62025-08-01

Predicted Aligned Error matrix for VARS2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

87.8/ 100

Confident

1,063 residues

Confidence breakdown

Very high(≥ 90)69%
Confident(70–90)21%
Low(50–70)4%
Very low(< 50)7%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

combined oxidative phosphorylation defect type 20
0.79
neurodegenerative disease
0.53
hereditary disease
0.52
mitochondrial disease
0.44
inborn mitochondrial metabolism disorder
0.37
multiple sclerosis
0.37
Alzheimer disease
0.37
lysosomal storage disease
0.37
Parkinson disease
0.37
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
0.12

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

Protein function (UniProt)

Valine--tRNA ligase, mitochondrial

Catalyzes the attachment of valine to tRNA(Val) in a two-step reaction: valine is first activated by ATP to form Val-AMP and then transferred to the acceptor end of tRNA(Val)