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-s... See more...

Aliases for CARS2 Gene

Aliases for CARS2 Gene

  • Cysteinyl-TRNA Synthetase 2, Mitochondrial 2 3 5
  • Cysteinyl-TRNA Synthetase 2, Mitochondrial (Putative) 2 3
  • Cysteine TRNA Ligase 2, Mitochondrial (Putative) 2 3
  • Probable Cysteine--TRNA Ligase, Mitochondrial 3 4
  • EC 6.1.1.16 4 51
  • CysRS 3 4
  • Cysteinyl-TRNA Synthetase 4
  • FLJ12118 2
  • EC 6.1.1 51
  • COXPD27 3
  • CARS2 5

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 Ovarian Cancer. Among its related pathways are tRNA Aminoacylation and Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleotide binding and cysteine-tRNA ligase activity. An important paralog of this gene is CARS1.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CARS2 Gene

Genomics for CARS2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CARS2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CARS2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CARS2

Top Transcription factor binding sites by QIAGEN in the CARS2 gene promoter:
  • COMP1
  • E47
  • Egr-3
  • HNF-4alpha1
  • HNF-4alpha2
  • ISGF-3
  • LUN-1
  • Nkx2-5
  • RREB-1
  • Spz1

Genomic Locations for CARS2 Gene

Genomic Locations for CARS2 Gene
chr13:110,641,410-110,713,603
(GRCh38/hg38)
Size:
72,194 bases
Orientation:
Minus strand
chr13:111,293,757-111,365,950
(GRCh37/hg19)
Size:
72,194 bases
Orientation:
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:
    Q9HA77-SYCM_HUMAN
    Recommended name:
    Probable cysteine--tRNA ligase, mitochondrial
    Protein Accession:
    Q9HA77
    Secondary Accessions:
    • Q8NI84
    • Q96IV4

    Protein attributes for CARS2 Gene

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

neXtProt entry for CARS2 Gene

Selected DME Specific Peptides for CARS2 Gene

Q9HA77:
  • KMSKSLKN
  • YSCGPTVY
  • CGPTVYD
  • GRPGWHIE
  • EKMSKSL
  • RPGWHIECS
  • FPHHENE
  • DKIIKRA
  • DFALWKA
  • TDVDDKII
  • LWKAAKP

Post-translational modifications for CARS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for CARS2 Gene

Gene Families for CARS2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for CARS2 Gene

Suggested Antigen Peptide Sequences for CARS2 Gene

GenScript: Design optimal peptide antigens:
  • Cysteine--tRNA ligase (SYCM_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HA77

UniProtKB/Swiss-Prot:

SYCM_HUMAN :
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
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:
Reaction=ATP + L-cysteine + tRNA(Cys) = AMP + diphosphate + L-cysteinyl-tRNA(Cys); Xref=Rhea:RHEA:17773, Rhea:RHEA-COMP:9661, Rhea:RHEA-COMP:9679, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:35235, ChEBI:CHEBI:78442, ChEBI:CHEBI:78517, ChEBI:CHEBI:456215; EC=6.1.1.16;.

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:0000166 nucleotide binding IEA --
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004817 cysteine-tRNA ligase activity IBA 21873635
GO:0005524 ATP binding IEA,IBA 21873635
GO:0016874 ligase activity 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

Animal Model Products

  • Taconic Biosciences Mouse Models for CARS2

CRISPR Products

miRNA for CARS2 Gene

miRTarBase miRNAs that target CARS2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CARS2

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

COMPARTMENTS
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 3
plasma membrane 2
cytosol 2
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 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 21873635
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

PathCards logo

SuperPathways 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 21873635
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
Cysteine Approved Nutra Target, substrate 250
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with CARS2: view

Transcripts for CARS2 Gene

mRNA/cDNA for CARS2 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
33 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CARS2

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: -
SP10:

Relevant External Links for CARS2 Gene

GeneLoc Exon Structure for
CARS2

Expression for CARS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for CARS2 Gene



Protein tissue co-expression partners for CARS2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CARS2

SOURCE GeneReport for Unigene cluster for CARS2 Gene:

Hs.508725

Evidence on tissue expression from TISSUES for CARS2 Gene

  • Lung(4.6)
  • Nervous system(3.9)
  • Skin(2.8)
  • Liver(2.3)
  • Kidney(2.2)
  • Muscle(2.2)
  • Intestine(2.1)
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
Chimpanzee
(Pan troglodytes)
Mammalia CARS2 30
  • 94.62 (n)
Dog
(Canis familiaris)
Mammalia CARS2 30 31
  • 80.36 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cars2 30
  • 78.82 (n)
Mouse
(Mus musculus)
Mammalia Cars2 30 17 31
  • 78.39 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LOC506598 30
  • 75.6 (n)
CARS2 31
  • 73 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CARS2 31
  • 72 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CARS2 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CARS2 30 31
  • 68.38 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CARS2 31
  • 61 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100498149 30
  • 63.75 (n)
Zebrafish
(Danio rerio)
Actinopterygii cars2 30 31
  • 61.24 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG8257 30 31
  • 50.37 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011821 30
  • 49.89 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 31
  • 25 (a)
OneToMany
Rice
(Oryza sativa)
Liliopsida Os10g0463100 30
  • 50.42 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6586 31
  • 40 (a)
OneToOne
Species where no ortholog for CARS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for CARS2 (if available)
TreeFam:
Gene Tree for CARS2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CARS2: view image

Paralogs for CARS2 Gene

Paralogs for CARS2 Gene

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

  • SYCM_HUMAN
  • F5H579_HUMAN
  • F5H623_HUMAN
  • H0YFF0_HUMAN
  • H0YFV1_HUMAN
  • H0YGF2_HUMAN
genes like me logo Genes that share paralogs with CARS2: view

Variants for CARS2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CARS2 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
638459 Uncertain Significance: Combined oxidative phosphorylation deficiency 27 110,641,603(-) T/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
639615 Uncertain Significance: Combined oxidative phosphorylation deficiency 27 110,677,088(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
641755 Uncertain Significance: Combined oxidative phosphorylation deficiency 27 110,687,752(-) A/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
643021 Uncertain Significance: Combined oxidative phosphorylation deficiency 27 110,706,069(-) C/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
643586 Uncertain Significance: Combined oxidative phosphorylation deficiency 27 110,642,359(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for CARS2 Gene

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

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

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)

Additional Variant Information for CARS2 Gene

Human Gene Mutation Database (HGMD)
CARS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CARS2

SNP Genotyping and Copy Number Assay Products

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

Disorders for CARS2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for CARS2 Gene - From: LncRNADisease, UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CARS2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYCM_HUMAN
  • 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.

Additional Disease Information for CARS2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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
  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
  3. A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. (PMID: 25361775) Hallmann K … Kunz WS (Neurology 2014) 3 4
  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 41
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41

Products for CARS2 Gene

Sources for CARS2 Gene