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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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MARS2
methionyl-tRNA synthetase 2, mitochondrial
Chromosome 2 Β· 2q33.1
NCBI Gene: 92935Ensembl: ENSG00000247626.5HGNC: HGNC:25133UniProt: Q96GW9
32PubMed Papers
22Diseases
0Drugs
6Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
methionyl-tRNA aminoacylationmitochondrial matrixmethionine-tRNA ligase activitymitochondrionspastic ataxia 3Autosomal recessive spastic ataxia with leukoencephalopathycombined oxidative phosphorylation defect type 25neurodegenerative disease
✦AI Summary

MARS2 encodes mitochondrial methionyl-tRNA synthetase, which canonically functions in mitochondrial protein synthesis by mediating the formation of fMet-tRNAifMet for translation initiation 1. Beyond its traditional role, MARS2 exhibits non-canonical functions through direct interaction with the mitochondrial calcium uniporter (MCU), stimulating mitochondrial Ca2+ influx in a methionine-dependent manner 1. This interaction serves as a molecular switch regulating cellular metabolism and calcium homeostasis. When MARS2 is depleted, mitochondrial Ca2+ influx decreases, leading to p53 upregulation through Ca2+-dependent CaMKII/CREB signaling, which triggers metabolic rewiring from glycolysis to the pentose phosphate pathway and reduces cellular reactive oxygen species levels 1. This metabolic switch inhibits epithelial-mesenchymal transition via cellular redox regulation, suggesting tumor suppressive functions 1. MARS2 expression is regulated by ZEB1 transcription factor in response to Wnt signaling 1. Clinically, MARS2 mutations are associated with combined oxidative phosphorylation deficiency 25 and spastic ataxia 3, reflecting its critical role in mitochondrial function. The dual role of MARS2 in both protein synthesis and calcium-mediated metabolic control positions it as a key regulator of mitochondrial homeostasis and cellular energetics.

Sources cited
1
MARS2 canonically mediates fMet-tRNAifMet formation for mitochondrial translation initiation
PMID: 36774778
2
MARS2 interacts with MCU and stimulates mitochondrial Ca2+ influx in a methionine-dependent manner
PMID: 36774778
3
MARS2 depletion leads to p53 upregulation through Ca2+-dependent CaMKII/CREB signaling
PMID: 36774778
4
MARS2 knockdown triggers metabolic rewiring from glycolysis to pentose phosphate pathway
PMID: 36774778
5
MARS2 expression is regulated by ZEB1 transcription factor in response to Wnt signaling
PMID: 36774778
Disease Associationsβ“˜22
spastic ataxia 3Open Targets
0.74Strong
Autosomal recessive spastic ataxia with leukoencephalopathyOpen Targets
0.70Strong
combined oxidative phosphorylation defect type 25Open Targets
0.63Moderate
neurodegenerative diseaseOpen Targets
0.54Moderate
autosomal recessive spastic ataxiaOpen Targets
0.48Moderate
mitochondrial oxidative phosphorylation disorderOpen Targets
0.48Moderate
mitochondrial diseaseOpen Targets
0.37Weak
lysosomal storage diseaseOpen Targets
0.26Weak
cervical carcinomaOpen Targets
0.24Weak
obesityOpen Targets
0.14Weak
hypertensionOpen Targets
0.13Weak
overnutritionOpen Targets
0.12Weak
smoking initiationOpen Targets
0.10Suggestive
Abnormality of the skeletal systemOpen Targets
0.05Suggestive
atopic asthmaOpen Targets
0.04Suggestive
rheumatoid arthritisOpen Targets
0.04Suggestive
lung cancerOpen Targets
0.04Suggestive
allergic rhinitisOpen Targets
0.04Suggestive
cancerOpen Targets
0.03Suggestive
systemic lupus erythematosusOpen Targets
0.03Suggestive
Combined oxidative phosphorylation deficiency 25UniProt
Spastic ataxia 3, autosomal recessiveUniProt
Pathogenic Variants6
NM_138395.4(MARS2):c.837G>A (p.Trp279Ter)Likely pathogenic
Spastic ataxia 3
β˜…β˜†β˜†β˜†2023β†’ Residue 279
NM_138395.4(MARS2):c.1032_1033del (p.Cys344fs)Pathogenic
Combined oxidative phosphorylation defect type 25
β˜…β˜†β˜†β˜†2018β†’ Residue 344
NM_138395.4(MARS2):c.145A>G (p.Thr49Ala)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2014β†’ Residue 49
NM_138395.4(MARS2):c.550C>T (p.Gln184Ter)Pathogenic
Combined oxidative phosphorylation defect type 25
β˜†β˜†β˜†β˜†2015β†’ Residue 184
NM_138395.4(MARS2):c.682_949del (p.Gly228fs)Pathogenic
Spastic ataxia 3
β˜†β˜†β˜†β˜†2012β†’ Residue 228
NM_138395.4(MARS2):c.2_*1dup (p.Met1_Ter594=)Pathogenic
Spastic ataxia 3
β˜†β˜†β˜†β˜†2012β†’ Residue 1
View on ClinVar β†—
Related Genes
CARS1Protein interaction97%GARS1Protein interaction97%PARS2Protein interaction97%SARS2Protein interaction97%CARS2Protein interaction97%NARS2Protein interaction97%
Tissue Expression6 tissues
Liver
100%
Heart
96%
Bone Marrow
66%
Brain
49%
Lung
38%
Ovary
25%
Gene Interaction Network
Click a node to explore
MARS2CARS1GARS1PARS2SARS2CARS2NARS2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96GW9
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.95LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.71 [0.54–0.95]
RankingsWhere MARS2 stands among ~20K protein-coding genes
  • #11,541of 20,598
    Most Researched32
  • #3,424of 5,498
    Most Pathogenic Variants6
  • #8,922of 17,882
    Most Constrained (LOEUF)0.95
Genes detectedMARS2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Uncovering heterogeneity in sepsis: a comparative analysis of subphenotypes.
PMID: 37851064
Intensive Care Med Β· 2023
1.00
2
Classification of patients with sepsis according to blood genomic endotype: a prospective cohort study.
PMID: 28864056
Lancet Respir Med Β· 2017
0.90
3
The Glia-Neuron Lactate Shuttle and Elevated ROS Promote Lipid Synthesis in Neurons and Lipid Droplet Accumulation in Glia via APOE/D.
PMID: 28965825
Cell Metab Β· 2017
0.80
4
MARS2 drives metabolic switch of non-small-cell lung cancer cells via interaction with MCU.
PMID: 36774778
Redox Biol Β· 2023
0.70
5
Neoadjuvant atezolizumab for resectable non-small cell lung cancer: an open-label, single-arm phase II trial.
PMID: 36097216
Nat Med Β· 2022
0.60