HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
LARS2
leucyl-tRNA synthetase 2, mitochondrial
Chromosome 3 Β· 3p21.31
NCBI Gene: 23395Ensembl: ENSG00000011376.13HGNC: HGNC:17095UniProt: Q15031
82PubMed Papers
22Diseases
0Drugs
65Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
leucyl-tRNA aminoacylationleucine-tRNA ligase activitymitochondrionmitochondrial translationPerrault syndrome 4hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndromeMitochondrial myopathy and sideroblastic anemiaPerrault syndrome
✦AI Summary

LARS2 (leucyl-tRNA synthetase 2, mitochondrial) catalyzes the aminoacylation of mitochondrial leucyl-tRNA, a critical step in mitochondrial protein translation 1. This enzyme localizes to the mitochondrial matrix and facilitates the attachment of leucine to its cognate tRNA, supporting oxidative phosphorylation and mitochondrial metabolic function 2. Mechanistically, LARS2 maintains mitochondrial translation fidelity and energy metabolism. Disruption of LARS2 function impairs mt-tRNALeu aminoacylation, leading to defective mitochondrial protein synthesis and altered cristae organization 1. LARS2 activity is substrate-dependent, requiring leucine availability, and its expression is upregulated by YAP mechanotransduction in response to matrix stiffness 2. Clinically, LARS2 mutations cause Perrault syndrome, characterized by sensorineural hearing loss and gonadal dysgenesis 3. Beyond genetic disease, LARS2 dysfunction associates with neurodegeneration; reduced LARS2 expression impairs the PI3K-AKT pathway, leading to excessive tau phosphorylation and cognitive decline in Alzheimer's disease models 4. Additionally, LARS2-expressing immunoregulatory B cells promote colorectal cancer immunoevasion through NAD+-dependent metabolic reprogramming, suggesting LARS2 inhibition as a therapeutic strategy 5. LARS2 represents a multifunctional target linking mitochondrial translation, metabolic diseases, neurodegeneration, and cancer immunology.

Sources cited
1
LARS2 function in mitochondrial leucyl-tRNA aminoacylation and its disruption by Glu-5'tsRNA-CTC leading to defective mitochondrial protein translation
PMID: 38458203
2
YAP upregulates LARS2 transcription to enhance mitochondrial OXPHOS in tumor-infiltrating Tregs, with leucine as essential substrate
PMID: 39551603
3
LARS2 mutations cause Perrault syndrome with sensorineural hearing loss and gonadal dysgenesis
PMID: 32423379
4
LARS2 downregulation impairs PI3K-AKT pathway, activates GSK3Ξ², and causes excessive tau phosphorylation in Alzheimer's disease
PMID: 38575503
5
LARS2-expressing B cells promote colorectal cancer immunoevasion through mitochondrial NAD+ regeneration and SIRT1-dependent metabolic programming
PMID: 35659337
Disease Associationsβ“˜22
Perrault syndrome 4Open Targets
0.80Strong
hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndromeOpen Targets
0.77Strong
Mitochondrial myopathy and sideroblastic anemiaOpen Targets
0.70Strong
Perrault syndromeOpen Targets
0.56Moderate
neurodegenerative diseaseOpen Targets
0.55Moderate
autosomal dominant nonsyndromic hearing lossOpen Targets
0.43Moderate
nonsyndromic genetic hearing lossOpen Targets
0.43Moderate
leukodystrophyOpen Targets
0.42Moderate
genetic disorderOpen Targets
0.41Moderate
Rare genetic deafnessOpen Targets
0.41Moderate
Perrault syndrome 2Open Targets
0.37Weak
Perrault syndrome 1Open Targets
0.37Weak
Abnormal erythrocyte morphologyOpen Targets
0.32Weak
Mitochondrial myopathyOpen Targets
0.30Weak
inborn mitochondrial myopathyOpen Targets
0.30Weak
neuroinflammatory disorderOpen Targets
0.29Weak
lower urinary tract calculusOpen Targets
0.29Weak
adolescent idiopathic scoliosisOpen Targets
0.27Weak
alcohol drinkingOpen Targets
0.24Weak
lysosomal storage diseaseOpen Targets
0.23Weak
Hydrops, lactic acidosis, and sideroblastic anemiaUniProt
Perrault syndrome 4UniProt
Pathogenic Variants65
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn)Pathogenic
Perrault syndrome 4|Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome|not provided|Rare genetic deafness|Perrault syndrome|LARS2-related disorder|LARS2-Related Disorders|Inborn genetic diseases|Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome;Perrault syndrome 4|Monogenic hearing loss
β˜…β˜…β˜†β˜†2026β†’ Residue 522
NM_015340.4(LARS2):c.1249A>G (p.Met417Val)Pathogenic
not provided|Perrault syndrome 4
β˜…β˜…β˜†β˜†2026β†’ Residue 417
NM_015340.4(LARS2):c.880G>A (p.Glu294Lys)Pathogenic
Perrault syndrome 4|not provided|Perrault syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 294
NM_015340.4(LARS2):c.1987C>T (p.Arg663Trp)Pathogenic
Perrault syndrome 4|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 663
NM_015340.4(LARS2):c.189G>A (p.Trp63Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 63
NM_015340.4(LARS2):c.1540_1541del (p.Lys514fs)Pathogenic
not provided|LARS2-Related Disorders
β˜…β˜…β˜†β˜†2025β†’ Residue 514
NM_015340.4(LARS2):c.1886C>T (p.Thr629Met)Pathogenic
Perrault syndrome 4|Nonsyndromic genetic hearing loss|Perrault syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 629
NM_015340.4(LARS2):c.235-2A>GLikely pathogenic
Perrault syndrome 4
β˜…β˜…β˜†β˜†2025
NM_015340.4(LARS2):c.1313A>G (p.Asp438Gly)Likely pathogenic
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 438
NM_015340.4(LARS2):c.196C>T (p.Arg66Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 66
NM_015340.4(LARS2):c.457A>C (p.Asn153His)Pathogenic
not provided|Perrault syndrome|Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome|Perrault syndrome 4
β˜…β˜…β˜†β˜†2024β†’ Residue 153
NM_015340.4(LARS2):c.556C>T (p.Gln186Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 186
NM_015340.4(LARS2):c.683G>A (p.Arg228His)Likely pathogenic
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome|Perrault syndrome 4|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 228
NM_015340.4(LARS2):c.1481dup (p.Leu495fs)Pathogenic
Nonsyndromic genetic hearing loss|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 495
NM_015340.4(LARS2):c.1607C>T (p.Pro536Leu)Likely pathogenic
Perrault syndrome 4|Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
β˜…β˜…β˜†β˜†2022β†’ Residue 536
NM_015340.4(LARS2):c.440A>C (p.Gln147Pro)Likely pathogenic
Perrault syndrome 4|Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
β˜…β˜…β˜†β˜†2022β†’ Residue 147
NM_015340.4(LARS2):c.2293-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2026
NM_015340.4(LARS2):c.1123+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_015340.4(LARS2):c.1778_1784del (p.Leu593fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 593
NM_015340.4(LARS2):c.455+1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
View on ClinVar β†—
Related Genes
RRAGCProtein interaction100%RRAGDProtein interaction100%SLC38A9Protein interaction100%IARS2Protein interaction99%CARS1Protein interaction98%GARS1Protein interaction98%
Tissue Expression6 tissues
Heart
100%
Liver
84%
Bone Marrow
82%
Brain
60%
Ovary
47%
Lung
37%
Gene Interaction Network
Click a node to explore
LARS2RRAGCRRAGDSLC38A9IARS2CARS1GARS1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q15031
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.81LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.64 [0.51–0.81]
RankingsWhere LARS2 stands among ~20K protein-coding genes
  • #5,804of 20,598
    Most Researched82
  • #1,106of 5,498
    Most Pathogenic Variants65 Β· top quartile
  • #6,766of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedLARS2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Leucine-tRNA-synthase-2-expressing B cells contribute to colorectal cancer immunoevasion.
PMID: 35659337
Immunity Β· 2022
1.00
2
Aging-induced tRNA
PMID: 38458203
Cell Metab Β· 2024
0.90
3
Genetics of ovarian insufficiency and defects of folliculogenesis.
PMID: 34794894
Best Pract Res Clin Endocrinol Metab Β· 2022
0.80
4
Heterogeneity of immune cells and their communications unveiled by transcriptome profiling in acute inflammatory lung injury.
PMID: 38745657
Front Immunol Β· 2024
0.70
5
Single-Cell RNA Sequencing Unveils Unique Transcriptomic Signatures of Organ-Specific Endothelial Cells.
PMID: 32929989
Circulation Β· 2020
0.60