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WARS2 tryptophanyl tRNA synthetase 2, mitochondrial [ Homo sapiens (human) ]

Gene ID: 10352, updated on 8-Jul-2018
Official Symbol
WARS2provided by HGNC
Official Full Name
tryptophanyl tRNA synthetase 2, mitochondrialprovided by HGNC
Primary source
HGNC:HGNC:12730
See related
Ensembl:ENSG00000116874 MIM:604733; Vega:OTTHUMG00000012335
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
TrpRS; NEMMLAS
Summary
Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. This gene encodes the mitochondrial tryptophanyl-tRNA synthetase. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in kidney (RPKM 4.3), colon (RPKM 4.1) and 25 other tissues See more
Orthologs
See WARS2 in Genome Data Viewer
Location:
1p12
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (119031216..119140788, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (119573839..119683404, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378933 Neighboring gene uncharacterized LOC107985191 Neighboring gene WARS2 intronic transcript 1 Neighboring gene RBMX2 pseudogene 3 Neighboring gene uncharacterized LOC101929147 Neighboring gene ribosomal protein S3a pseudogene 12 Neighboring gene ribosomal protein L6 pseudogene 2 Neighboring gene uncharacterized LOC107985192

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES
MedGen: C4540192 OMIM: 617710 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
tryptophan-tRNA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tryptophan-tRNA ligase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
mitochondrial tryptophanyl-tRNA aminoacylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tRNA aminoacylation for protein translation TAS
Traceable Author Statement
more info
 
tryptophanyl-tRNA aminoacylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tryptophanyl-tRNA aminoacylation IEA
Inferred from Electronic Annotation
more info
 
vasculogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
Preferred Names
tryptophan--tRNA ligase, mitochondrial
Names
(Mt)TrpRS
tryptophan tRNA ligase 2, mitochondrial
NP_056651.1
NP_957715.1
XP_005270407.1
XP_011538796.1
XP_011538797.1
XP_016855527.1
XP_016855528.1
XP_016855529.1
XP_016855530.1
XP_016855531.1
XP_024305594.1
XP_024305628.1
XP_024305639.1

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_050658.1 RefSeqGene

    Range
    5117..114573
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015836.3NP_056651.1  tryptophan--tRNA ligase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_056651.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer protein (isoform 1).
    Source sequence(s)
    AL139420, AL359823, AL590288, BC044575
    Consensus CDS
    CCDS900.1
    UniProtKB/Swiss-Prot
    Q9UGM6
    Related
    ENSP00000235521.4, OTTHUMP00000014272, ENST00000235521.4, OTTHUMT00000034362
    Conserved Domains (1) summary
    PRK00927
    Location:34360
    PRK00927; tryptophanyl-tRNA synthetase; Reviewed
  2. NM_201263.2NP_957715.1  tryptophan--tRNA ligase, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_957715.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an alternate in-frame segment in the 3' coding region, compared to variant 1, that causes a frameshift. The resulting protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AL139420, AL590288, BC039889
    Consensus CDS
    CCDS30817.1
    UniProtKB/Swiss-Prot
    Q9UGM6
    Related
    ENSP00000358434.5, OTTHUMP00000014273, ENST00000369426.9, OTTHUMT00000034363
    Conserved Domains (1) summary
    cl28426
    Location:34212
    PRK12282; tryptophanyl-tRNA synthetase II; Reviewed

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    119031216..119140788 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000041.2XP_016855530.1  tryptophan--tRNA ligase, mitochondrial isoform X7

  2. XM_024449860.1XP_024305628.1  tryptophan--tRNA ligase, mitochondrial isoform X6

    Conserved Domains (1) summary
    cl28426
    Location:1266
    PRK12282; tryptophanyl-tRNA synthetase II; Reviewed
  3. XM_024449826.1XP_024305594.1  tryptophan--tRNA ligase, mitochondrial isoform X3

    Conserved Domains (1) summary
    PRK00927
    Location:11337
    PRK00927; tryptophanyl-tRNA synthetase; Reviewed
  4. XM_011540495.2XP_011538797.1  tryptophan--tRNA ligase, mitochondrial isoform X5

    Conserved Domains (1) summary
    cl00015
    Location:30226
    nt_trans; nucleotidyl transferase superfamily
  5. XM_017000040.1XP_016855529.1  tryptophan--tRNA ligase, mitochondrial isoform X4

    UniProtKB/TrEMBL
    B7Z6G7
    Conserved Domains (2) summary
    cd00806
    Location:36255
    TrpRS_core; catalytic core domain of tryptophanyl-tRNA synthetase
    PRK00927
    Location:34303
    PRK00927; tryptophanyl-tRNA synthetase; Reviewed
  6. XM_017000042.1XP_016855531.1  tryptophan--tRNA ligase, mitochondrial isoform X8

    UniProtKB/TrEMBL
    B7Z448
    Conserved Domains (1) summary
    cl00015
    Location:36143
    nt_trans; nucleotidyl transferase superfamily
  7. XM_017000038.1XP_016855527.1  tryptophan--tRNA ligase, mitochondrial isoform X2

  8. XM_024449871.1XP_024305639.1  tryptophan--tRNA ligase, mitochondrial isoform X6

    Conserved Domains (1) summary
    cl28426
    Location:1266
    PRK12282; tryptophanyl-tRNA synthetase II; Reviewed
  9. XM_011540494.2XP_011538796.1  tryptophan--tRNA ligase, mitochondrial isoform X3

    See identical proteins and their annotated locations for XP_011538796.1

    Conserved Domains (1) summary
    PRK00927
    Location:11337
    PRK00927; tryptophanyl-tRNA synthetase; Reviewed
  10. XM_017000039.1XP_016855528.1  tryptophan--tRNA ligase, mitochondrial isoform X3

    Conserved Domains (1) summary
    PRK00927
    Location:11337
    PRK00927; tryptophanyl-tRNA synthetase; Reviewed
  11. XM_005270350.3XP_005270407.1  tryptophan--tRNA ligase, mitochondrial isoform X1

    Conserved Domains (2) summary
    cd00806
    Location:18294
    TrpRS_core; catalytic core domain of tryptophanyl-tRNA synthetase
    PRK00927
    Location:16342
    PRK00927; tryptophanyl-tRNA synthetase; Reviewed
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