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

Gene ID: 79587, updated on 1-Jun-2020

Summary

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
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

Genomic context

See CARS2 in Genome Data Viewer
Location:
13q34
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (110641410..110713601, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (111293757..111358480, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene RAB20, member RAS oncogene family Neighboring gene NAD(P)HX dehydratase Neighboring gene inhibitor of growth family member 1 Neighboring gene uncharacterized LOC107984613 Neighboring gene ribosomal protein L21 pseudogene 107

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12118, FLJ42514, DKFZp667A2315, DKFZp686G08243

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cysteine-tRNA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cysteinyl-tRNA aminoacylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_011519418.1
XP_011519419.1
XP_011519420.1
XP_016876230.1
XP_016876231.1
XP_024305177.1

NCBI Reference Sequences (RefSeq)

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_001352252.1NP_001339181.1  probable cysteine--tRNA ligase, mitochondrial isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL139385, AL157820
    Conserved Domains (1) summary
    cl27478
    Location:2301
    tRNA-synt_1e; tRNA synthetases class I (C) catalytic domain
  2. NM_001352253.2NP_001339182.1  probable cysteine--tRNA ligase, mitochondrial isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL139385, AL157820
    Conserved Domains (1) summary
    cl27478
    Location:35319
    tRNA-synt_1e; tRNA synthetases class I (C) catalytic domain
  3. NM_024537.4NP_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
    Q9HA77
    UniProtKB/TrEMBL
    B7Z7E6
    Related
    ENSP00000257347.4, ENST00000257347.9
    Conserved Domains (2) summary
    cd00672
    Location:53356
    CysRS_core; catalytic core domain of cysteinyl tRNA synthetase
    COG0215
    Location:53553
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    110641410..110713601 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006719953.3XP_006720016.1  probable cysteine--tRNA ligase, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_006720016.1

    Conserved Domains (2) summary
    PTZ00399
    Location:1450
    PTZ00399; cysteinyl-tRNA-synthetase; Provisional
    cl00015
    Location:1243
    nt_trans; nucleotidyl transferase superfamily
  2. XM_017020741.1XP_016876230.1  probable cysteine--tRNA ligase, mitochondrial isoform X1

    Conserved Domains (2) summary
    PTZ00399
    Location:1450
    PTZ00399; cysteinyl-tRNA-synthetase; Provisional
    cl00015
    Location:1243
    nt_trans; nucleotidyl transferase superfamily
  3. XM_024449409.1XP_024305177.1  probable cysteine--tRNA ligase, mitochondrial isoform X6

    Conserved Domains (1) summary
    cl27478
    Location:2301
    tRNA-synt_1e; tRNA synthetases class I (C) catalytic domain
  4. XM_011521116.1XP_011519418.1  probable cysteine--tRNA ligase, mitochondrial isoform X2

    Conserved Domains (2) summary
    PTZ00399
    Location:9448
    PTZ00399; cysteinyl-tRNA-synthetase; Provisional
    cl00015
    Location:16241
    nt_trans; nucleotidyl transferase superfamily
  5. XM_017020742.2XP_016876231.1  probable cysteine--tRNA ligase, mitochondrial isoform X5

  6. XM_011521118.3XP_011519420.1  probable cysteine--tRNA ligase, mitochondrial isoform X4

    Conserved Domains (1) summary
    cd00672
    Location:53306
    CysRS_core; catalytic core domain of cysteinyl tRNA synthetase
  7. XM_011521117.3XP_011519419.1  probable cysteine--tRNA ligase, mitochondrial isoform X3

    Conserved Domains (1) summary
    cd00672
    Location:53306
    CysRS_core; catalytic core domain of cysteinyl tRNA synthetase

RNA

  1. XR_243047.3 RNA Sequence

  2. XR_243051.3 RNA Sequence

  3. XR_002957472.1 RNA Sequence

  4. XR_243048.4 RNA Sequence

  5. XR_243049.4 RNA Sequence

  6. XR_001749664.2 RNA Sequence

  7. XR_001749665.2 RNA Sequence

  8. XR_001749668.2 RNA Sequence

  9. XR_001749667.2 RNA Sequence

  10. XR_001749666.2 RNA Sequence

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