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

Gene ID: 57038, updated on 26-Nov-2014
Official Symbol
RARS2provided by HGNC
Official Full Name
arginyl-tRNA synthetase 2, mitochondrialprovided by HGNC
Primary source
HGNC:HGNC:21406
Locus tag
RP3-382I10.6
See related
Ensembl:ENSG00000146282; HPRD:15209; MIM:611524; Vega:OTTHUMG00000015178
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; dJ382I10.6
Summary
The protein encoded by this gene is an arginyl-tRNA synthetase that is found in the mitochondrial matrix. Defects in this gene are a cause of pontocerebellar hypoplasia type 6 (PCH6). [provided by RefSeq, Oct 2008]
See RARS2 in Epigenomics, MapViewer
Location:
6q16.1
Exon count:
20
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 6 NC_000006.12 (87514378..87590017, 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 chromosome 6 open reading frame 165 Neighboring gene suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 16 Neighboring gene solute carrier family 35 (CMP-sialic acid transporter), member A1 Neighboring gene origin recognition complex, subunit 3 Neighboring gene akirin 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Pontocerebellar hypoplasia type 6
MedGen: C1969084 OMIM: 611523 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC14993, MGC23778

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
arginine-tRNA ligase activity IEA
Inferred from Electronic Annotation
more info
 
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
arginyl-tRNA aminoacylation IEA
Inferred from Electronic Annotation
more info
 
gene expression TAS
Traceable Author Statement
more info
 
tRNA aminoacylation for protein translation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
Preferred Names
probable arginine--tRNA ligase, mitochondrial
Names
probable arginine--tRNA ligase, mitochondrial
arginine-tRNA ligase
arginine--tRNA ligase
probable arginyl-tRNA synthetase, mitochondrial
NP_064716.2

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 

    Range
    5001..80640
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020320.3NP_064716.2  probable arginine--tRNA ligase, mitochondrial precursor

    See proteins identical to NP_064716.2

    Status: REVIEWED

    Source sequence(s)
    AK315669, CA415020, DA607375
    Consensus CDS
    CCDS5011.1
    UniProtKB/Swiss-Prot
    Q5T160
    Related
    ENSP00000358549, OTTHUMP00000016833, ENST00000369536, OTTHUMT00000041448
    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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

    Range
    87514378..87590017
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248736.2XP_005248793.1  

    See proteins identical to XP_005248793.1

    UniProtKB/TrEMBL
    H0UI22
    Conserved Domains (2) summary
    cl00015
    Location:2274
    nt_trans; nucleotidyl transferase superfamily
    cl12020
    Location:250403
    Anticodon_Ia_like; Anticodon-binding domain of class Ia aminoacyl tRNA synthetases and similar domains
  2. XM_005248735.2XP_005248792.1  

    See proteins identical to XP_005248792.1

    UniProtKB/TrEMBL
    H0UI22
    Conserved Domains (2) summary
    cl00015
    Location:2274
    nt_trans; nucleotidyl transferase superfamily
    cl12020
    Location:250403
    Anticodon_Ia_like; Anticodon-binding domain of class Ia aminoacyl tRNA synthetases and similar domains
  3. XM_005248737.2XP_005248794.1  

    See proteins identical to XP_005248794.1

    UniProtKB/TrEMBL
    H0UI22
    Conserved Domains (2) summary
    cl00015
    Location:2274
    nt_trans; nucleotidyl transferase superfamily
    cl12020
    Location:250403
    Anticodon_Ia_like; Anticodon-binding domain of class Ia aminoacyl tRNA synthetases and similar domains

RNA

  1. XR_241848.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

    Range
    88321542..88397093
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    85440335..85515340
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)