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

Gene ID: 57038, updated on 1-Jun-2020

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
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

Genomic context

See RARS2 in Genome Data Viewer
Location:
6q15
Exon count:
26
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (87513935..87590032, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (88223656..88299735, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 206 Neighboring gene ST13, Hsp70 interacting protein pseudogene 16 Neighboring gene solute carrier family 35 member A1 Neighboring gene RNA, U6 small nuclear 444, pseudogene Neighboring gene origin recognition complex subunit 3 Neighboring gene akirin 2 Neighboring gene uncharacterized LOC101928911 Neighboring gene FOXA motif-containing MPRA enhancer 167

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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC14993, MGC23778

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
RNA binding HDA PubMed 
arginine-tRNA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
arginine-tRNA ligase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
arginyl-tRNA aminoacylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial translation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tRNA aminoacylation for protein translation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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_016866564.1
XP_016866565.1
XP_016866566.1
XP_016866567.1
XP_024302262.1

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_008601.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001318785.1NP_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)
    AI610814, BC105784, CA314872, CB177631, DB455377
    UniProtKB/TrEMBL
    H0UI22
    Conserved Domains (1) summary
    cl27258
    Location:2403
    tRNA-synt_1d; tRNA synthetases class I (R)
  2. NM_001350505.1NP_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
    Conserved Domains (1) summary
    cl27258
    Location:36576
    tRNA-synt_1d; tRNA synthetases class I (R)
  3. NM_001350506.1NP_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
    Conserved Domains (1) summary
    cl27258
    Location:2401
    tRNA-synt_1d; tRNA synthetases class I (R)
  4. NM_001350507.1NP_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
    Conserved Domains (1) summary
    cl27258
    Location:2403
    tRNA-synt_1d; tRNA synthetases class I (R)
  5. NM_001350508.1NP_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
    Conserved Domains (1) summary
    cl27258
    Location:2403
    tRNA-synt_1d; tRNA synthetases class I (R)
  6. NM_001350509.1NP_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
    Conserved Domains (1) summary
    cl27258
    Location:2403
    tRNA-synt_1d; tRNA synthetases class I (R)
  7. NM_001350510.1NP_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
    Conserved Domains (1) summary
    cl27258
    Location:2403
    tRNA-synt_1d; tRNA synthetases class I (R)
  8. NM_001350511.1NP_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
    Conserved Domains (1) summary
    cl27258
    Location:2403
    tRNA-synt_1d; tRNA synthetases class I (R)
  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
    Q5T160
    Related
    ENSP00000358549.5, ENST00000369536.10
    Conserved Domains (3) summary
    cd00671
    Location:126388
    ArgRS_core; catalytic core domain of arginyl-tRNA synthetases
    COG0018
    Location:36578
    ArgS; Arginyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]
    cl12020
    Location:425578
    Anticodon_Ia_like; Anticodon-binding domain of class Ia aminoacyl tRNA synthetases and similar domains

RNA

  1. NR_134857.1 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)
    AI610814, BC022341, CA314872, CB177631, DB455377
  2. NR_146738.1 RNA Sequence

    Status: REVIEWED

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

    Status: REVIEWED

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

    Status: REVIEWED

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

    Status: REVIEWED

    Source sequence(s)
    AL049697, AL451126
  6. NR_146742.1 RNA Sequence

    Status: REVIEWED

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

    Status: REVIEWED

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

    Status: REVIEWED

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

    Status: REVIEWED

    Source sequence(s)
    AL049697, AL451126
  10. NR_146746.1 RNA Sequence

    Status: REVIEWED

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

    Status: REVIEWED

    Source sequence(s)
    AL049697, AL451126
  12. NR_146748.1 RNA Sequence

    Status: REVIEWED

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

    Status: REVIEWED

    Source sequence(s)
    AL049697, AL451126
  14. NR_146750.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL049697, AL451126
  15. NR_146751.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL049697, AL451126
  16. NR_146752.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL049697, AL451126
  17. NR_146753.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL049697, AL451126
  18. NR_146754.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL049697, AL451126
  19. NR_146755.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL049697, AL451126
  20. NR_146756.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL049697, AL451126
  21. NR_146757.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL049697, AL451126
  22. NR_146758.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL049697, AL451126
  23. NR_146759.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL049697, AL451126

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_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    87513935..87590032 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011075.2XP_016866564.1  probable arginine--tRNA ligase, mitochondrial isoform X2

    Conserved Domains (1) summary
    cl27258
    Location:2401
    tRNA-synt_1d; tRNA synthetases class I (R)
  2. XM_017011076.2XP_016866565.1  probable arginine--tRNA ligase, mitochondrial isoform X2

    Conserved Domains (1) summary
    cl27258
    Location:2401
    tRNA-synt_1d; tRNA synthetases class I (R)
  3. XM_017011073.1XP_016866562.1  probable arginine--tRNA ligase, mitochondrial isoform X2

    Conserved Domains (1) summary
    cl27258
    Location:2401
    tRNA-synt_1d; tRNA synthetases class I (R)
  4. XM_017011077.2XP_016866566.1  probable arginine--tRNA ligase, mitochondrial isoform X2

    Conserved Domains (1) summary
    cl27258
    Location:2401
    tRNA-synt_1d; tRNA synthetases class I (R)
  5. XM_017011078.2XP_016866567.1  probable arginine--tRNA ligase, mitochondrial isoform X2

    Conserved Domains (1) summary
    cl27258
    Location:2401
    tRNA-synt_1d; tRNA synthetases class I (R)
  6. XM_017011074.2XP_016866563.1  probable arginine--tRNA ligase, mitochondrial isoform X2

    Conserved Domains (1) summary
    cl27258
    Location:2401
    tRNA-synt_1d; tRNA synthetases class I (R)
  7. XM_024446494.1XP_024302262.1  probable arginine--tRNA ligase, mitochondrial isoform X3

    Conserved Domains (1) summary
    cl27258
    Location:2403
    tRNA-synt_1d; tRNA synthetases class I (R)
  8. XM_011535949.3XP_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

RNA

  1. XR_001743517.2 RNA Sequence

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