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Aliases for CARS2 Gene

Aliases for CARS2 Gene

  • Cysteinyl-TRNA Synthetase 2, Mitochondrial 2 3
  • Cysteinyl-TRNA Synthetase 2, Mitochondrial (Putative) 2 3 5
  • Cysteine TRNA Ligase 2, Mitochondrial (Putative) 2 3
  • EC 4 58
  • CYSRS 3 4
  • Probable Cysteine--TRNA Ligase, Mitochondrial 3
  • Cysteinyl-TRNA Synthetase 4
  • EC 6.1.1 58
  • COXPD27 3

External Ids for CARS2 Gene

Previous GeneCards Identifiers for CARS2 Gene

  • GC13M110092
  • GC13M111293
  • GC13M091893

Summaries for CARS2 Gene

Entrez Gene Summary for CARS2 Gene

  • This gene encodes a putative member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of cysteine to tRNA molecules. A splice-site mutation in this gene has been associated with a novel progressive myoclonic epilepsy disease with similar symptoms to MERRF syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2017]

GeneCards Summary for CARS2 Gene

CARS2 (Cysteinyl-TRNA Synthetase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with CARS2 include Combined Oxidative Phosphorylation Deficiency 27 and Atypical Autism. Among its related pathways are tRNA Aminoacylation and Gene Expression. GO annotations related to this gene include nucleotide binding and cysteine-tRNA ligase activity. An important paralog of this gene is CARS.

Additional gene information for CARS2 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CARS2 Gene

Genomics for CARS2 Gene

Regulatory Elements for CARS2 Gene

Enhancers for CARS2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13H110710 1.4 ENCODE dbSUPER 37.6 -0.3 -320 5.9 HNRNPUL1 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 CARS2 ANKRD10-IT1 RPL21P107 PARP1P1 RN7SKP10 LOC102724489 LINC02337 COL4A2 COL4A1 LOC105376684
GH13H110657 1.2 Ensembl ENCODE dbSUPER 39.9 +55.5 55458 1.7 BATF FOXK2 EED ATF7 ETV6 RUNX3 IKZF2 NFE2L2 HLF CBFB CARS2 NAXD ING1 ANKRD10 COL4A2-AS2 COL4A2 GC13P110640 GC13P110711
GH13H110702 1.6 Ensembl ENCODE dbSUPER 27.2 +8.9 8888 4.5 HDGF FOXA2 PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 CARS2 COL4A2 COL4A1 GC13P110711 GC13P110640
GH13H110675 1.3 Ensembl ENCODE dbSUPER 30.8 +37.0 36987 2 HDGF PKNOX1 RB1 BACH1 BMI1 EBF1 EED ZNF207 ETV6 RUNX3 CARS2 ING1 NAXD GC13P110711 GC13P110640
GH13H110644 1 ENCODE dbSUPER 36.4 +68.7 68743 0.8 SCRT1 CTCF BACH1 SP2 ZBTB8A ZIC2 RAD21 YY1 GLIS2 ATF3 CARS2 NAXD ING1 ANKRD10 GC13P110640 GC13P110711
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CARS2 on UCSC Golden Path with GeneCards custom track

Promoters for CARS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for CARS2 Gene

Genomic Locations for CARS2 Gene
72,194 bases
Minus strand

Genomic View for CARS2 Gene

Genes around CARS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CARS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CARS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CARS2 Gene

Proteins for CARS2 Gene

  • Protein details for CARS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Probable cysteine--tRNA ligase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • Q8NI84
    • Q96IV4

    Protein attributes for CARS2 Gene

    564 amino acids
    Molecular mass:
    62224 Da
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available
    • Sequence=BAB93499.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for CARS2 Gene

Selected DME Specific Peptides for CARS2 Gene


Post-translational modifications for CARS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for CARS2 Gene

Gene Families for CARS2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CARS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the class-I aminoacyl-tRNA synthetase family.
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with CARS2: view

Function for CARS2 Gene

Molecular function for CARS2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-cysteine + tRNA(Cys) = AMP + diphosphate + L-cysteinyl-tRNA(Cys).

Enzyme Numbers (IUBMB) for CARS2 Gene

Phenotypes From GWAS Catalog for CARS2 Gene

Gene Ontology (GO) - Molecular Function for CARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004817 cysteine-tRNA ligase activity IBA --
GO:0005524 ATP binding IEA,IBA --
GO:0016874 ligase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CARS2: view
genes like me logo Genes that share phenotypes with CARS2: view

Human Phenotype Ontology for CARS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for CARS2 Gene

miRTarBase miRNAs that target CARS2

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for CARS2 Gene

Localization for CARS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CARS2 Gene

Mitochondrion matrix.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CARS2 gene
Compartment Confidence
mitochondrion 5
nucleus 2
plasma membrane 1
cytoskeleton 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix IEA --
genes like me logo Genes that share ontologies with CARS2: view

Pathways & Interactions for CARS2 Gene

genes like me logo Genes that share pathways with CARS2: view

Pathways by source for CARS2 Gene

1 KEGG pathway for CARS2 Gene

Gene Ontology (GO) - Biological Process for CARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation IEA --
GO:0006423 cysteinyl-tRNA aminoacylation IBA --
genes like me logo Genes that share ontologies with CARS2: view

No data available for SIGNOR curated interactions for CARS2 Gene

Drugs & Compounds for CARS2 Gene

(4) Drugs for CARS2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Cysteine Approved Nutra Target 0
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
ATP Nutra Agonist 0

(1) Additional Compounds for CARS2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
genes like me logo Genes that share compounds with CARS2: view

Transcripts for CARS2 Gene

Unigene Clusters for CARS2 Gene

Cysteinyl-tRNA synthetase 2, mitochondrial (putative):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CARS2 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11
SP1: - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - -
SP4: - - - - - -
SP5: - - - - - -
SP6: - - - - - - -
SP7: - - - - -
SP8: - - -
SP9: -

Relevant External Links for CARS2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CARS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CARS2 Gene

Protein differential expression in normal tissues from HIPED for CARS2 Gene

This gene is overexpressed in Lymph node (12.4), Adrenal (9.9), Peripheral blood mononuclear cells (8.0), and Stomach (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CARS2 Gene

Protein tissue co-expression partners for CARS2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CARS2 Gene:


SOURCE GeneReport for Unigene cluster for CARS2 Gene:


Evidence on tissue expression from TISSUES for CARS2 Gene

  • Lung(4.5)
  • Nervous system(3.4)
genes like me logo Genes that share expression patterns with CARS2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CARS2 Gene

Orthologs for CARS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CARS2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CARS2 33
  • 94.62 (n)
(Canis familiaris)
Mammalia CARS2 33 34
  • 80.36 (n)
(Rattus norvegicus)
Mammalia Cars2 33
  • 78.82 (n)
(Mus musculus)
Mammalia Cars2 33 16 34
  • 78.39 (n)
(Bos Taurus)
Mammalia LOC506598 33
  • 75.6 (n)
CARS2 34
  • 73 (a)
(Monodelphis domestica)
Mammalia CARS2 34
  • 72 (a)
(Ornithorhynchus anatinus)
Mammalia CARS2 34
  • 72 (a)
(Gallus gallus)
Aves CARS2 33 34
  • 68.38 (n)
(Anolis carolinensis)
Reptilia CARS2 34
  • 61 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498149 33
  • 63.75 (n)
(Danio rerio)
Actinopterygii cars2 33 34
  • 61.24 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8257 33 34
  • 50.37 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011821 33
  • 49.89 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 25 (a)
(Oryza sativa)
Liliopsida Os10g0463100 33
  • 50.42 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6586 34
  • 40 (a)
Species where no ortholog for CARS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CARS2 Gene

Gene Tree for CARS2 (if available)
Gene Tree for CARS2 (if available)

Paralogs for CARS2 Gene

Paralogs for CARS2 Gene

(3) SIMAP similar genes for CARS2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with CARS2: view

Variants for CARS2 Gene

Sequence variations from dbSNP and Humsavar for CARS2 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs557671802 Pathogenic, Combined oxidative phosphorylation deficiency 27 (COXPD27) [MIM:616672] 110,677,007(+) AGCCC(A/G)GCCTC nc-transcript-variant, reference, missense
rs727505361 Pathogenic 110,683,051(-) AGCCA(A/G)GTGGG nc-transcript-variant, reference, missense
rs753472937 Pathogenic 110,683,055(+) CCTGG(-/CTC)TCCGA nc-transcript-variant, cds-indel
rs774110184 Uncertain significance 110,706,092(+) TCAAC(A/G)TGTCA intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense
rs1000008957 -- 110,696,577(+) ATACA(G/T)GTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CARS2 Gene

Variant ID Type Subtype PubMed ID
nsv832720 CNV loss 17160897
nsv563131 CNV loss 21841781
nsv563128 CNV loss 21841781
nsv563125 CNV loss 21841781
nsv563124 CNV loss 21841781
nsv519282 CNV loss 19592680
nsv511508 CNV loss 21212237
nsv456120 CNV loss 19166990
nsv1145697 CNV deletion 24896259
nsv1141766 CNV insertion 24896259
nsv1141492 CNV deletion 24896259
nsv1138272 CNV deletion 24896259
nsv1127365 CNV deletion 24896259
nsv1116734 CNV tandem duplication 24896259
nsv1070199 CNV deletion 25765185
nsv1044340 CNV gain 25217958
nsv1044234 CNV gain 25217958
nsv1042232 CNV gain 25217958
esv994770 CNV deletion 20482838
esv991840 CNV deletion 20482838
esv2748043 CNV deletion 23290073
esv2748042 CNV deletion 23290073
esv2748039 CNV deletion 23290073
esv2748037 CNV deletion 23290073
esv2748036 CNV deletion 23290073
esv2748035 CNV deletion 23290073
esv2663401 CNV deletion 23128226
esv23797 CNV loss 19812545
esv1319128 CNV deletion 17803354
esv1011361 CNV loss 20482838
dgv3401n54 CNV loss 21841781
dgv3400n54 CNV gain+loss 21841781
dgv3399n54 CNV loss 21841781
dgv3398n54 CNV gain 21841781
dgv3397n54 CNV loss 21841781
dgv3396n54 CNV gain 21841781
dgv240e201 CNV deletion 23290073

Variation tolerance for CARS2 Gene

Residual Variation Intolerance Score: 89.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.51; 77.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CARS2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CARS2 Gene

Disorders for CARS2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CARS2 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 27
  • combined oxidative phosphorylation defect type 27
atypical autism
  • pdd
myoclonic epilepsy associated with ragged-red fibers
  • merrf syndrome
- elite association - COSMIC cancer census association via MalaCards
Search CARS2 in MalaCards View complete list of genes associated with diseases


  • Combined oxidative phosphorylation deficiency 27 (COXPD27) [MIM:616672]: An autosomal recessive mitochondrial disorder characterized by multiple mitochondrial respiratory-chain-complex deficiencies causing neurological regression, progressive cognitive decline, complex movement disorder, epileptic encephalopathy, progressive spastic tetraparesis, and progressive impairment of vision and hearing. {ECO:0000269 PubMed:25361775, ECO:0000269 PubMed:25787132}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CARS2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CARS2: view

No data available for Genatlas for CARS2 Gene

Publications for CARS2 Gene

  1. Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder. (PMID: 25787132) Coughlin CR … Shaikh TH (Journal of medical genetics 2015) 2 3 4 60
  2. Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS. (PMID: 15779907) Bonnefond L … Sissler M (Biochemistry 2005) 2 3 4 60
  3. A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. (PMID: 25361775) Hallmann K … Kunz WS (Neurology 2014) 3 4 60
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60

Products for CARS2 Gene

Sources for CARS2 Gene

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