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

    Gene ID: 79587, updated on 27-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
    mouse all
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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
    • 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
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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