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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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PARS2
prolyl-tRNA synthetase 2, mitochondrial
Chromosome 1 Β· 1p32.3
NCBI Gene: 25973Ensembl: ENSG00000162396.7HGNC: HGNC:30563UniProt: Q7L3T8
44PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrionproline-tRNA ligase activityprolyl-tRNA aminoacylationtRNA aminoacylation for protein translationgenetic developmental and epileptic encephalopathyneurodegenerative diseaseAlpers syndromegenetic disorder
✦AI Summary

PARS2 is a mitochondrial aminoacyl-tRNA synthetase that catalyzes the attachment of proline to its cognate transfer RNA (tRNA-Pro), a critical step in mitochondrial protein synthesis 1. The enzyme functions through a two-step mechanism: proline is first activated by ATP to form Pro-AMP, then transferred to the acceptor end of tRNA-Pro [UniProt]. Loss of PARS2 activity reduces mitochondrial tRNA-Pro aminoacylation, leading to decreased oxidative phosphorylation (OXPHOS) complex protein levels and defective complex assembly 2. Biallelic pathogenic PARS2 variants cause Developmental and Epileptic Encephalopathy-75 (DEE-75), characterized by early-onset refractory infantile spasms, intellectual disability, microcephaly, and cerebral atrophy with hypomyelination 1. Additional features may include lactic acidemia, cardiomyopathy, hearing loss, and ovarian dysfunction 34. Most affected individuals historically died before age 10, though longer survival without cardiac involvement has been documented 13. Recent mechanistic studies reveal that PARS2 deficiency activates the integrated stress response (ISR) pathway through GCN2 kinase, reducing global protein translation via ATF4 activation; genetic suppression of GCN2 or ATF4 reverses developmental delay and seizure phenotypes in disease models 2. These findings suggest targeting ISR as a potential therapeutic approach for PARS2-related disease.

Sources cited
1
PARS2 biallelic variants cause DEE-75 with early-onset refractory infantile spasms, intellectual disability, microcephaly, cerebral atrophy with hypomyelination, lactic acidemia, and cardiomyopathy
PMID: 38087948
2
PARS2 mutations associated with profound intellectual disability, seizures, variable cardiomyopathy and brain imaging anomalies, first report of ovarian dysfunction
PMID: 37956963
3
PARS2 deficiency reduces mitochondrial tRNA-Pro aminoacylation, decreases OXPHOS complex proteins, activates integrated stress response via GCN2/ATF4 pathway; genetic suppression of ISR components reverses developmental delay and seizures
PMID: 41380592
4
PARS2 compound heterozygous mutations cause infantile-onset developmental delay/regression and epilepsy with variable clinical features including hearing loss
PMID: 28077841
5
PARS2 identified as candidate disease gene with homozygous likely deleterious variants identified in patients with phenotypic expansion
PMID: 30237576
6
PARS2 identified in cohort of mitochondrial disorder patients diagnosed by whole-exome sequencing
PMID: 27290639
7
PARS2 mutations identified in patients with Alpers syndrome, a progressive neurodegenerative disorder
PMID: 25629079
8
PARS2 compound heterozygous variants identified by whole exome sequencing; mitochondrial ARS deficiencies associated with neurological disorders including early-onset epileptic syndromes
PMID: 34585293
Disease Associationsβ“˜21
genetic developmental and epileptic encephalopathyOpen Targets
0.64Moderate
neurodegenerative diseaseOpen Targets
0.56Moderate
Alpers syndromeOpen Targets
0.53Moderate
genetic disorderOpen Targets
0.38Weak
undetermined early-onset epileptic encephalopathyOpen Targets
0.37Weak
adolescent idiopathic scoliosisOpen Targets
0.32Weak
Abnormality of the gastrointestinal tractOpen Targets
0.31Weak
mitochondrial diseaseOpen Targets
0.19Weak
myoepithelial tumorOpen Targets
0.11Weak
ovarian neoplasmOpen Targets
0.06Suggestive
lysosomal storage diseaseOpen Targets
0.06Suggestive
infectionOpen Targets
0.02Suggestive
KeloidOpen Targets
0.01Suggestive
Miyoshi myopathyOpen Targets
0.01Suggestive
multiple myelomaOpen Targets
0.01Suggestive
viral diseaseOpen Targets
0.01Suggestive
toxoplasmosisOpen Targets
0.01Suggestive
malariaOpen Targets
0.01Suggestive
Global developmental delayOpen Targets
0.01Suggestive
Epileptic encephalopathyOpen Targets
0.01Suggestive
Developmental and epileptic encephalopathy 75UniProt
Pathogenic Variants7
NM_152268.4(PARS2):c.886C>T (p.Gln296Ter)Likely pathogenic
Developmental and epileptic encephalopathy, 75
β˜…β˜…β˜†β˜†2024β†’ Residue 296
NM_152268.4(PARS2):c.1271A>T (p.Asp424Val)Likely pathogenic
Developmental and epileptic encephalopathy, 75
β˜…β˜†β˜†β˜†2025β†’ Residue 424
NM_152268.4(PARS2):c.877C>G (p.Pro293Ala)Likely pathogenic
Developmental and epileptic encephalopathy, 75
β˜…β˜†β˜†β˜†2024β†’ Residue 293
NM_152268.4(PARS2):c.401G>A (p.Trp134Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 134
NM_152268.4(PARS2):c.383G>A (p.Trp128Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 128
NM_152268.4(PARS2):c.865C>T (p.Gln289Ter)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2016β†’ Residue 289
NM_152268.4(PARS2):c.1130dup (p.Pro377_Lys378insTer)Pathogenic
Developmental and epileptic encephalopathy, 75
β˜†β˜†β˜†β˜†2015β†’ Residue 377
View on ClinVar β†—
Related Genes
LARS1Protein interaction100%IARS2Protein interaction98%SYNCRIPProtein interaction97%MARS2Protein interaction97%CARS1Protein interaction96%GARS1Protein interaction96%
Tissue Expression6 tissues
Heart
100%
Liver
79%
Ovary
66%
Brain
61%
Lung
27%
Bone Marrow
4%
Gene Interaction Network
Click a node to explore
PARS2LARS1IARS2SYNCRIPMARS2CARS1GARS1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q7L3T8
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.98LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.68 [0.49–0.98]
RankingsWhere PARS2 stands among ~20K protein-coding genes
  • #9,630of 20,598
    Most Researched44
  • #3,227of 5,498
    Most Pathogenic Variants7
  • #9,307of 17,882
    Most Constrained (LOEUF)0.98
Genes detectedPARS2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Autozygome and high throughput confirmation of disease genes candidacy.
PMID: 30237576
Genet Med Β· 2019
1.00
2
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
PMID: 27290639
J Transl Med Β· 2016
0.90
3
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep.
PMID: 38087948
Mol Genet Genomic Med Β· 2024
0.80
4
Novel mutation in PARS2 revealed highly variable phenotype of developmental and epileptic encephalopathy-75.
PMID: 37956963
Gene Β· 2024
0.70
5
Activation of the integrated stress response contributes to developmental delay and seizures caused by mitochondrial prolyl-tRNA synthetase (PARS2) deficiency.
PMID: 41380592
Redox Biol Β· 2026
0.60