HARS2

Chr 5q31.3

histidyl-tRNA synthetase 2, mitochondrial

Aliases:: HO3, HARSR
MANE:: ENST00000230771.9

OMIM: 600783 ↗NCBI: 23438 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

HARS2 · P49590

v62025-08-01

Predicted Aligned Error matrix for HARS2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

88.1/ 100

Confident

506 residues

Confidence breakdown

Very high(≥ 90)74%
Confident(70–90)13%
Low(50–70)8%
Very low(< 50)6%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal
Primary ovarian insufficiency
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability

Disease associations (Open Targets)

Perrault syndrome 2
0.76
Perrault syndrome
0.60
neurodegenerative disease
0.42
Sensorineural hearing impairment
0.37
Perrault syndrome 1
0.37
hereditary disease
0.19
deafness
0.07
hearing loss, autosomal recessive
0.07
autosomal dominant nonsyndromic hearing loss
0.06
Meniere disease
0.05

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

Protein function (UniProt)

Histidine--tRNA ligase, mitochondrial

Mitochondrial aminoacyl-tRNA synthetase that catalyzes the ATP-dependent ligation of histidine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (His-AMP)