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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.
CARS2
cysteinyl-tRNA synthetase 2, mitochondrial
Chromosome 13 Β· 13q34
NCBI Gene: 79587Ensembl: ENSG00000134905.18HGNC: HGNC:25695UniProt: B7Z7E6
53PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cysteine-tRNA ligase activitycysteinyl-tRNA aminoacylationmitochondrioncytoplasmCombined oxidative phosphorylation defect type 27neurodegenerative diseasemitochondrial oxidative phosphorylation disordergenetic disorder
✦AI Summary

CARS2 encodes a mitochondrial cysteinyl-tRNA synthetase with dual functions in protein synthesis and cellular signaling. Beyond its canonical role in aminoacylation, CARS2 exhibits cysteine persulfide synthase activity, producing reactive persulfide species such as cysteine persulfide (CysSSH) that are incorporated into proteins during translation 1. These persulfide modifications serve as potent antioxidants and cellular protectants 1. CARS2 participates in hydrogen sulfide metabolism alongside other enzymes like CBS, CSE, and 3-MST 2. The enzyme plays critical roles in immune regulation and inflammation control. CARS2 expression increases in anti-inflammatory M2 macrophages and decreases in pro-inflammatory M1 macrophages 3. Knockdown studies reveal that CARS2 enhances IL-10 anti-inflammatory signaling through STAT3 phosphorylation and suppresses pro-inflammatory cytokine production 3. In T cell biology, CARS2-dependent supersulfide metabolism restrains CD4+ T cell proliferation, with Cars2+/- mice showing spontaneous accumulation of effector/memory CD4+ T cells and enhanced susceptibility to colitis 4. CARS2 downregulation is associated with inflammatory bowel disease pathogenesis in humans 4. The gene is also implicated in cancer biology, where elevated CARS2 expression supports basal-like breast cancer progression through persulfide-mediated cellular protection 1, and serves as a potential biomarker in osteoarthritis 5.

Sources cited
1
CARS2 has cysteine persulfide synthase activity and produces CysSSH that serves as antioxidant and supports breast cancer progression
PMID: 34737229
2
CARS2 is one of the pivotal enzymes in H2S biosynthesis in mammalian cells alongside CBS, CSE, and 3-MST
PMID: 39643979
3
CARS2 expression patterns differ between M1 and M2 macrophages and supports anti-inflammatory IL-10 signaling through STAT3
PMID: 35381443
4
CARS2-dependent supersulfide metabolism restrains CD4+ T cell proliferation and its downregulation is associated with IBD
PMID: 40303402
5
CARS2 is identified as a hub mitochondria-related gene and potential biomarker in osteoarthritis
PMID: 39026663
Disease Associationsβ“˜21
Combined oxidative phosphorylation defect type 27Open Targets
0.76Strong
neurodegenerative diseaseOpen Targets
0.55Moderate
mitochondrial oxidative phosphorylation disorderOpen Targets
0.47Moderate
genetic disorderOpen Targets
0.47Moderate
temporomandibular joint disorderOpen Targets
0.31Weak
coronary artery diseaseOpen Targets
0.31Weak
atrial fibrillationOpen Targets
0.29Weak
Parkinson diseaseOpen Targets
0.27Weak
nephritisOpen Targets
0.27Weak
ovarian neoplasmOpen Targets
0.27Weak
heart failureOpen Targets
0.23Weak
bone remodeling diseaseOpen Targets
0.21Weak
coronary atherosclerosisOpen Targets
0.19Weak
mitochondrial diseaseOpen Targets
0.18Weak
maturity-onset diabetes of the young type 2Open Targets
0.12Weak
microcephalyOpen Targets
0.11Weak
cystitisOpen Targets
0.09Suggestive
urethritisOpen Targets
0.07Suggestive
Primary dystonia, DYT13 typeOpen Targets
0.07Suggestive
attention deficit hyperactivity disorderOpen Targets
0.06Suggestive
Combined oxidative phosphorylation deficiency 27UniProt
Pathogenic Variants4
NM_024537.4(CARS2):c.655G>A (p.Ala219Thr)Likely pathogenic
Combined oxidative phosphorylation defect type 27|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 219
NM_024537.4(CARS2):c.1360dup (p.Ile454fs)Pathogenic
Inborn genetic diseases|Combined oxidative phosphorylation defect type 27
β˜…β˜…β˜†β˜†2020β†’ Residue 454
NM_024537.4(CARS2):c.1238_1239insC (p.Phe414_Asp415insTer)Likely pathogenic
Combined oxidative phosphorylation defect type 27
β˜…β˜†β˜†β˜†2024β†’ Residue 414
NM_024537.4(CARS2):c.1426G>T (p.Gly476Ter)Likely pathogenic
Combined oxidative phosphorylation defect type 27
β˜…β˜†β˜†β˜†2019β†’ Residue 476
View on ClinVar β†—
Related Genes
QARS1Protein interaction100%EPRS1Protein interaction100%MARS2Protein interaction97%CBSProtein interaction93%CARS1Protein interaction92%PIGLProtein interaction88%
Tissue Expression6 tissues
Lung
100%
Liver
92%
Ovary
88%
Heart
72%
Bone Marrow
72%
Brain
39%
Gene Interaction Network
Click a node to explore
CARS2QARS1EPRS1MARS2CBSCARS1PIGL
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9HA77
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.23LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.94 [0.73–1.23]
RankingsWhere CARS2 stands among ~20K protein-coding genes
  • #8,402of 20,598
    Most Researched53
  • #3,789of 5,498
    Most Pathogenic Variants4
  • #12,907of 17,882
    Most Constrained (LOEUF)1.23
Genes detectedCARS2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Characterizing mitochondrial features in osteoarthritis through integrative multi-omics and machine learning analysis.
PMID: 39026663
Front Immunol Β· 2024
1.00
2
Emerging roles of hydrogen sulfide-metabolizing enzymes in cancer.
PMID: 39643979
Redox Rep Β· 2024
0.90
3
Music therapy improves engagement and initiation for autistic children with mild intellectual disabilities: A randomized controlled study.
PMID: 39508131
Autism Res Β· 2024
0.80
4
Reprogrammed transsulfuration promotes basal-like breast tumor progression via realigning cellular cysteine persulfidation.
PMID: 34737229
Proc Natl Acad Sci U S A Β· 2021
0.70
5
Bumetanide oral solution for the treatment of children and adolescents with autism spectrum disorder: Results from two randomized phase III studies.
PMID: 37794745
Autism Res Β· 2023
0.60