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    RARS2 arginyl-tRNA synthetase 2, mitochondrial [ Homo sapiens (human) ]

    Gene ID: 57038, updated on 17-Jun-2024

    Summary

    Official Symbol
    RARS2provided by HGNC
    Official Full Name
    arginyl-tRNA synthetase 2, mitochondrialprovided by HGNC
    Primary source
    HGNC:HGNC:21406
    See related
    Ensembl:ENSG00000146282 MIM:611524; AllianceGenome:HGNC:21406
    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
    PCH6; ArgRS; RARSL; DALRD2; PRO1992
    Summary
    This nuclear gene encodes a protein that localizes to the mitochondria, where it catalyzes the transfer of L-arginine to its cognate tRNA, an important step in translation of mitochondrially-encoded proteins. Defects in this gene are a cause of pontocerebellar hypoplasia type 6 (PCH6). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
    Expression
    Ubiquitous expression in adrenal (RPKM 9.8), testis (RPKM 8.4) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See RARS2 in Genome Data Viewer
    Location:
    6q15
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (87513938..87589987, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (88722691..88798283, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (88223656..88299705, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901357 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:88182339-88183245 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24795 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24796 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:88193750-88194949 Neighboring gene solute carrier family 35 member A1 Neighboring gene RNA, U6 small nuclear 444, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24797 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:88298835-88299796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:88301170-88301670 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:88301671-88302171 Neighboring gene NANOG hESC enhancer GRCh37_chr6:88313800-88314301 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:88323459-88323960 Neighboring gene origin recognition complex subunit 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:88349062-88349578 Neighboring gene MPRA-validated peak5943 silencer Neighboring gene akirin 2 Neighboring gene NANOG hESC enhancer GRCh37_chr6:88408207-88408726 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17375 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17376 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24799 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24800 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24801 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24802 Neighboring gene small nucleolar RNA U13

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Pontocerebellar hypoplasia type 6
    MedGen: C1969084 OMIM: 611523 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC14993, MGC23778

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA binding HDA PubMed 
    enables arginine-tRNA ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables arginine-tRNA ligase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables arginine-tRNA ligase activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in arginyl-tRNA aminoacylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitochondrial translation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in tRNA aminoacylation for protein translation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrial membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    probable arginine--tRNA ligase, mitochondrial
    Names
    probable arginyl-tRNA synthetase, mitochondrial
    NP_001305714.1
    NP_001337434.1
    NP_001337435.1
    NP_001337436.1
    NP_001337437.1
    NP_001337438.1
    NP_001337439.1
    NP_001337440.1
    NP_064716.2
    XP_011534251.1
    XP_016866562.1
    XP_016866563.1
    XP_047275048.1
    XP_047275049.1
    XP_047275050.1
    XP_047275051.1
    XP_054211932.1
    XP_054211933.1
    XP_054211934.1
    XP_054211935.1
    XP_054211936.1
    XP_054211937.1
    XP_054211938.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_008601.1 RefSeqGene

      Range
      5031..81080
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001318785.2NP_001305714.1  probable arginine--tRNA ligase, mitochondrial isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site and lacks an alternate exon in the 5' region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      BC105784, CA314872, CB177631, DB455377
      Consensus CDS
      CCDS93968.1
      UniProtKB/TrEMBL
      A0A8I5KQV7, H0UI22, H0UI23
      Related
      ENSP00000509195.1, ENST00000693327.1
      Conserved Domains (1) summary
      COG0018
      Location:2403
      ArgS; Arginyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]
    2. NM_001350505.2NP_001337434.1  probable arginine--tRNA ligase, mitochondrial isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) encodes the longest isoform (3).
      Source sequence(s)
      AL049697, AL451126
      Consensus CDS
      CCDS93970.1
      UniProtKB/TrEMBL
      A0A8I5KP51, A0A8I5KWC6
      Related
      ENSP00000509453.1, ENST00000691725.1
      Conserved Domains (1) summary
      cl27258
      Location:36576
      tRNA-synt_1d; tRNA synthetases class I (R)
    3. NM_001350506.2NP_001337435.1  probable arginine--tRNA ligase, mitochondrial isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) encodes isoform 4.
      Source sequence(s)
      AL049697, AL451126
      Consensus CDS
      CCDS93969.1
      UniProtKB/TrEMBL
      A0A8I5KPZ0, A0A8I5KQV7
      Related
      ENSP00000509147.1, ENST00000693431.1
      Conserved Domains (1) summary
      cl27258
      Location:2401
      tRNA-synt_1d; tRNA synthetases class I (R)
    4. NM_001350507.2NP_001337436.1  probable arginine--tRNA ligase, mitochondrial isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variants 2 and 7-10, encodes isoform 2.
      Source sequence(s)
      AL049697, AL451126
      Consensus CDS
      CCDS93968.1
      UniProtKB/TrEMBL
      A0A8I5KQV7, H0UI22, H0UI23
      Related
      ENSP00000509026.1, ENST00000685408.1
      Conserved Domains (1) summary
      COG0018
      Location:2403
      ArgS; Arginyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]
    5. NM_001350508.2NP_001337437.1  probable arginine--tRNA ligase, mitochondrial isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variants 2, 6, and 8-10, encodes isoform 2.
      Source sequence(s)
      AL049697, AL451126
      Consensus CDS
      CCDS93968.1
      UniProtKB/TrEMBL
      A0A8I5KQV7, H0UI22, H0UI23
      Conserved Domains (1) summary
      COG0018
      Location:2403
      ArgS; Arginyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]
    6. NM_001350509.2NP_001337438.1  probable arginine--tRNA ligase, mitochondrial isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variants 2, 6, 7, 9, and 10, encodes isoform 2.
      Source sequence(s)
      AL049697, AL451126
      Consensus CDS
      CCDS93968.1
      UniProtKB/TrEMBL
      A0A8I5KQV7, H0UI22, H0UI23
      Conserved Domains (1) summary
      COG0018
      Location:2403
      ArgS; Arginyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]
    7. NM_001350510.2NP_001337439.1  probable arginine--tRNA ligase, mitochondrial isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), as well as variants 2, 6-8, and 10, encodes isoform 2.
      Source sequence(s)
      AL049697, AL451126
      Consensus CDS
      CCDS93968.1
      UniProtKB/TrEMBL
      A0A8I5KQV7, H0UI22, H0UI23
      Related
      ENSP00000510542.1, ENST00000689174.1
      Conserved Domains (1) summary
      COG0018
      Location:2403
      ArgS; Arginyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]
    8. NM_001350511.2NP_001337440.1  probable arginine--tRNA ligase, mitochondrial isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10), as well as variants 2 and 6-9, encodes isoform 2.
      Source sequence(s)
      AL049697, AL451126
      Consensus CDS
      CCDS93968.1
      UniProtKB/TrEMBL
      A0A8I5KQV7, H0UI22, H0UI23
      Related
      ENSP00000389656.2, ENST00000451155.2
      Conserved Domains (1) summary
      COG0018
      Location:2403
      ArgS; Arginyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]
    9. NM_020320.5NP_064716.2  probable arginine--tRNA ligase, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_064716.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AK315669, CA314872, CB177631, DB455377
      Consensus CDS
      CCDS5011.1
      UniProtKB/Swiss-Prot
      B2RDT7, Q5T160, Q96FU5, Q9H8K8
      UniProtKB/TrEMBL
      A0A8I5KP51
      Related
      ENSP00000358549.5, ENST00000369536.10
      Conserved Domains (1) summary
      COG0018
      Location:36578
      ArgS; Arginyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]

    RNA

    1. NR_134857.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate internal splice site compared to variant 1. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC022341, CA314872, CB177631
      Related
      ENST00000686988.1
    2. NR_146738.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049697, AL451126
      Related
      ENST00000689206.1
    3. NR_146739.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049697, AL451126
      Related
      ENST00000691815.1
    4. NR_146740.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049697, AL451126
      Related
      ENST00000690622.1
    5. NR_146741.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049697, AL451126
    6. NR_146742.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049697, AL451126
      Related
      ENST00000690884.1
    7. NR_146743.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049697, AL451126
      Related
      ENST00000685701.1
    8. NR_146744.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049697, AL451126
      Related
      ENST00000685069.1
    9. NR_146745.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049697, AL451126
    10. NR_146746.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049697, AL451126
      Related
      ENST00000685881.1
    11. NR_146747.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049697, AL451126
    12. NR_146748.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049697, AL451126
      Related
      ENST00000685376.1
    13. NR_146749.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049697, AL451126
    14. NR_146750.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049697, AL451126
    15. NR_146751.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049697, AL451126
    16. NR_146752.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049697, AL451126
    17. NR_146753.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049697, AL451126
    18. NR_146754.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049697, AL451126
    19. NR_146755.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049697, AL451126
    20. NR_146756.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049697, AL451126
    21. NR_146757.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049697, AL451126
    22. NR_146758.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049697, AL451126
    23. NR_146759.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049697, AL451126
      Related
      ENST00000688532.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      87513938..87589987 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419092.1XP_047275048.1  probable arginine--tRNA ligase, mitochondrial isoform X2

      UniProtKB/TrEMBL
      A0A8I5KPZ0, A0A8I5KQV7
    2. XM_017011073.2XP_016866562.1  probable arginine--tRNA ligase, mitochondrial isoform X2

      UniProtKB/TrEMBL
      A0A8I5KPZ0, A0A8I5KQV7
      Conserved Domains (1) summary
      cl27258
      Location:2401
      tRNA-synt_1d; tRNA synthetases class I (R)
    3. XM_017011074.3XP_016866563.1  probable arginine--tRNA ligase, mitochondrial isoform X2

      UniProtKB/TrEMBL
      A0A8I5KPZ0, A0A8I5KQV7
      Conserved Domains (1) summary
      cl27258
      Location:2401
      tRNA-synt_1d; tRNA synthetases class I (R)
    4. XM_047419093.1XP_047275049.1  probable arginine--tRNA ligase, mitochondrial isoform X2

      UniProtKB/TrEMBL
      A0A8I5KPZ0, A0A8I5KQV7
    5. XM_047419094.1XP_047275050.1  probable arginine--tRNA ligase, mitochondrial isoform X2

      UniProtKB/TrEMBL
      A0A8I5KPZ0, A0A8I5KQV7
    6. XM_011535949.4XP_011534251.1  probable arginine--tRNA ligase, mitochondrial isoform X1

      Conserved Domains (3) summary
      cd00671
      Location:126388
      ArgRS_core; catalytic core domain of arginyl-tRNA synthetases
      pfam00750
      Location:124449
      tRNA-synt_1d; tRNA synthetases class I (R)
      cl12020
      Location:425472
      Anticodon_Ia_like; Anticodon-binding domain of class Ia aminoacyl tRNA synthetases and similar domains
    7. XM_047419095.1XP_047275051.1  probable arginine--tRNA ligase, mitochondrial isoform X3

      UniProtKB/TrEMBL
      A0A8I5KS21
      Related
      ENSP00000509592.1, ENST00000692843.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      88722691..88798283 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355959.1XP_054211934.1  probable arginine--tRNA ligase, mitochondrial isoform X2

      UniProtKB/TrEMBL
      A0A8I5KQV7
    2. XM_054355958.1XP_054211933.1  probable arginine--tRNA ligase, mitochondrial isoform X2

      UniProtKB/TrEMBL
      A0A8I5KQV7
    3. XM_054355960.1XP_054211935.1  probable arginine--tRNA ligase, mitochondrial isoform X2

      UniProtKB/TrEMBL
      A0A8I5KQV7
    4. XM_054355961.1XP_054211936.1  probable arginine--tRNA ligase, mitochondrial isoform X2

      UniProtKB/TrEMBL
      A0A8I5KQV7
    5. XM_054355962.1XP_054211937.1  probable arginine--tRNA ligase, mitochondrial isoform X2

      UniProtKB/TrEMBL
      A0A8I5KQV7
    6. XM_054355957.1XP_054211932.1  probable arginine--tRNA ligase, mitochondrial isoform X1

    7. XM_054355963.1XP_054211938.1  probable arginine--tRNA ligase, mitochondrial isoform X3

      UniProtKB/TrEMBL
      A0A8I5KS21

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_014107.1: Suppressed sequence

      Description
      NM_014107.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.