AARS2

Chr 6p21.1

alanyl-tRNA synthetase 2, mitochondrial

Aliases:: KIAA1270, bA444E17.1
MANE:: ENST00000244571.5

OMIM: 612035 ↗NCBI: 57505 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

AARS2 · Q5JTZ9

v62025-08-01

Predicted Aligned Error matrix for AARS2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

87.9/ 100

Confident

985 residues

Confidence breakdown

Very high(≥ 90)61%
Confident(70–90)31%
Low(50–70)3%
Very low(< 50)5%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Adult onset leukodystrophy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Inherited white matter disorders
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal
Primary ovarian insufficiency
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

combined oxidative phosphorylation defect type 8
0.79
leukoencephalopathy, progressive, with ovarian failure
0.77
ovarioleukodystrophy
0.62
neurodegenerative disease
0.53
hereditary disease
0.50
mitochondrial disease
0.50
Abnormality of the cardiovascular system
0.47
Pulmonary hypoplasia
0.41
rheumatoid arthritis
0.40
cardiomyopathy
0.38

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

Protein function (UniProt)

Alanine--tRNA ligase, mitochondrial

Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain (PubMed:21549344). In presence of high levels of lactate, also acts as a protein lactyltransferase that mediates lactylation of lysine residues in target proteins, such as CGAS (PubMed:39322678). Acts as an inhibitor of cGAS/STING signaling by catalyzing lactylation of CGAS, preventing the formation of liquid-like droplets in which CGAS is activated (PubMed:39322678)