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CARS2 cysteinyl-tRNA synthetase 2, mitochondrial [ Homo sapiens (human) ]

Gene ID: 79587, updated on 2-Nov-2024

Summary

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Official Symbol
CARS2provided by HGNC
Official Full Name
cysteinyl-tRNA synthetase 2, mitochondrialprovided by HGNC
Primary source
HGNC:HGNC:25695
See related
Ensembl:ENSG00000134905 MIM:612800; AllianceGenome:HGNC:25695
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
cysRS; COXPD27
Summary
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]
Expression
Ubiquitous expression in spleen (RPKM 6.3), bone marrow (RPKM 6.0) and 25 other tissues See more
Orthologs
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Genomic context

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See CARS2 in Genome Data Viewer
Location:
13q34
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (110641410..110713522, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (109871850..109944015, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (111293757..111358862, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8003 Neighboring gene Sharpr-MPRA regulatory region 8993 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:111183105-111183721 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:111186543-111187325 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5502 Neighboring gene RAB20, member RAS oncogene family Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:111209741-111210264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:111210265-111210787 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:111213668-111213857 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr13:111253624-111254492 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:111262660-111263160 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:111263161-111263661 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:111266973-111267900 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8005 Neighboring gene NAXD antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:111284913-111285575 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:111286570-111287399 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:111287400-111288228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:111289059-111289887 Neighboring gene NAD(P)HX dehydratase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:111301435-111301934 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5507 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5508 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8007 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8008 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8011 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:111364717-111364885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8012 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5512 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5511 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5513 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5514 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8013 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:111368201-111368894 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:111371617-111372308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8015 Neighboring gene inhibitor of growth family member 1 Neighboring gene uncharacterized LOC107984613 Neighboring gene ribosomal protein L21 pseudogene 107

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. Hallmann K, et al. Neurology, 2014 Dec 2. PMID 25361775
  2. Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder. Coughlin CR 2nd, et al. J Med Genet, 2015 Aug. PMID 25787132
  3. Cysteinyl-tRNA synthetase governs cysteine polysulfidation and mitochondrial bioenergetics. Akaike T, et al. Nat Commun, 2017 Oct 27. PMID 29079736, Free PMC Article
  4. Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS. Bonnefond L, et al. Biochemistry, 2005 Mar 29. PMID 15779907
  5. Inhibition of the Mitochondrial Protease ClpP as a Therapeutic Strategy for Human Acute Myeloid Leukemia. Cole A, et al. Cancer Cell, 2015 Jun 8. PMID 26058080, Free PMC Article

See all (50) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mutations in CARS2 result in a mitochondrial translational defect as seen in individuals with mitochondrial epileptic encephalopathy.
    Title: Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
  2. CARS2 is a novel disease gene associated with a severe progressive myoclonic epilepsy most resembling MERRF syndrome
    Title: A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Combined oxidative phosphorylation defect type 27
MedGen: C5567608 OMIM: 616672 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ12118, FLJ42514, DKFZp667A2315, DKFZp686G08243

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cysteine-tRNA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cysteine-tRNA ligase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cysteinyl-tRNA aminoacylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cysteinyl-tRNA aminoacylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
probable cysteine--tRNA ligase, mitochondrial
Names
cysteine tRNA ligase 2, mitochondrial (putative)
cysteinyl-tRNA synthetase 2, mitochondrial (putative)
NP_001339181.1
NP_001339182.1
NP_078813.1
XP_006720016.1
XP_011519420.1
XP_016876231.1
XP_047286561.1
XP_047286562.1
XP_047286563.1
XP_047286564.1
XP_047286565.1
XP_054230926.1
XP_054230927.1
XP_054230928.1
XP_054230929.1
XP_054230930.1
XP_054230931.1
XP_054230932.1
XP_054230933.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042045.2 RefSeqGene

    Range
    12486..77185
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001352252.2 → NP_001339181.1  probable cysteine--tRNA ligase, mitochondrial isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL139385, AL157820
    Conserved Domains (1) summary
    cl27478
    Location:2 → 301
    tRNA-synt_1e; tRNA synthetases class I (C) catalytic domain

  2. NM_001352253.3 → NP_001339182.1  probable cysteine--tRNA ligase, mitochondrial isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL139385, AL157820
    Conserved Domains (1) summary
    cl27478
    Location:35 → 319
    tRNA-synt_1e; tRNA synthetases class I (C) catalytic domain

  3. NM_024537.4 → NP_078813.1  probable cysteine--tRNA ligase, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_078813.1

    Status: REVIEWED

    Source sequence(s)
    AK301907, BC007220, CB047094, HY150557
    Consensus CDS
    CCDS9514.1
    UniProtKB/Swiss-Prot
    Q8NI84, Q96IV4, Q9HA77
    Related
    ENSP00000257347.4, ENST00000257347.9
    Conserved Domains (2) summary
    cd00672
    Location:53 → 356
    CysRS_core; catalytic core domain of cysteinyl tRNA synthetase
    COG0215
    Location:53 → 553
    CysS; Cysteinyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]

RNA

  1. NR_147941.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL139385, AL157820

  2. NR_147942.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL139385, AL157820

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    110641410..110713522 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006719953.4 → XP_006720016.1  probable cysteine--tRNA ligase, mitochondrial isoform X2

    See identical proteins and their annotated locations for XP_006720016.1

    Conserved Domains (2) summary
    PTZ00399
    Location:1 → 450
    PTZ00399; cysteinyl-tRNA-synthetase; Provisional
    cl00015
    Location:1 → 243
    nt_trans; nucleotidyl transferase superfamily

  2. XM_047430606.1 → XP_047286562.1  probable cysteine--tRNA ligase, mitochondrial isoform X3

  3. XM_047430609.1 → XP_047286565.1  probable cysteine--tRNA ligase, mitochondrial isoform X7

    Related
    ENST00000481787.6

  4. XM_047430607.1 → XP_047286563.1  probable cysteine--tRNA ligase, mitochondrial isoform X4

  5. XM_047430608.1 → XP_047286564.1  probable cysteine--tRNA ligase, mitochondrial isoform X6

  6. XM_047430605.1 → XP_047286561.1  probable cysteine--tRNA ligase, mitochondrial isoform X1

  7. XM_017020742.3 → XP_016876231.1  probable cysteine--tRNA ligase, mitochondrial isoform X6

  8. XM_011521118.4 → XP_011519420.1  probable cysteine--tRNA ligase, mitochondrial isoform X5

    Conserved Domains (1) summary
    cd00672
    Location:53 → 306
    CysRS_core; catalytic core domain of cysteinyl tRNA synthetase

RNA

  1. XR_001749667.3 RNA Sequence

  2. XR_007063696.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    109871850..109944015 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054374952.1 → XP_054230927.1  probable cysteine--tRNA ligase, mitochondrial isoform X2

  2. XM_054374953.1 → XP_054230928.1  probable cysteine--tRNA ligase, mitochondrial isoform X3

  3. XM_054374958.1 → XP_054230933.1  probable cysteine--tRNA ligase, mitochondrial isoform X7

  4. XM_054374954.1 → XP_054230929.1  probable cysteine--tRNA ligase, mitochondrial isoform X4

  5. XM_054374956.1 → XP_054230931.1  probable cysteine--tRNA ligase, mitochondrial isoform X6

  6. XM_054374951.1 → XP_054230926.1  probable cysteine--tRNA ligase, mitochondrial isoform X1

  7. XM_054374957.1 → XP_054230932.1  probable cysteine--tRNA ligase, mitochondrial isoform X6

  8. XM_054374955.1 → XP_054230930.1  probable cysteine--tRNA ligase, mitochondrial isoform X5

RNA

  1. XR_008488778.1 RNA Sequence

  2. XR_008488779.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9HA77.1 GenPept UniProtKB/Swiss-Prot:Q9HA77

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