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

Gene ID: 10352, updated on 25-Nov-2021

Summary

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
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; mtTrpRS
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
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Genomic context

See WARS2 in Genome Data Viewer
Location:
1p12
Exon count:
8
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (119031216..119140788, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (119573839..119683295, 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 RPS3A pseudogene 12 Neighboring gene WARS2 antisense RNA 1 Neighboring gene ribosomal protein L6 pseudogene 2 Neighboring gene uncharacterized LOC107985192

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
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
GeneReviews: Not available
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
MedGen: C4540192 OMIM: 617710 GeneReviews: Not available
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Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables tryptophan-tRNA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables tryptophan-tRNA ligase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
involved_in mitochondrial tryptophanyl-tRNA aminoacylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of angiogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in tRNA aminoacylation for protein translation TAS
Traceable Author Statement
more info
 
involved_in tryptophanyl-tRNA aminoacylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in vasculogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
tryptophan--tRNA ligase, mitochondrial
Names
(Mt)TrpRS
tryptophan tRNA ligase 2, mitochondrial
NP_001365155.1
NP_001365156.1
NP_001365157.1
NP_001365158.1
NP_001365159.1
NP_001365160.1
NP_056651.1
NP_957715.1
XP_005270407.1
XP_016855527.1
XP_016855530.1
XP_024305594.1
XP_024305628.1

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_050658.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001378226.1NP_001365155.1  tryptophan--tRNA ligase, mitochondrial isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL139420, AL359823, AL590288
    Conserved Domains (1) summary
    PRK00927
    Location:11337
    PRK00927; tryptophanyl-tRNA synthetase; Reviewed
  2. NM_001378227.1NP_001365156.1  tryptophan--tRNA ligase, mitochondrial isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL139420, AL359823, AL590288
    Conserved Domains (1) summary
    PRK00927
    Location:11337
    PRK00927; tryptophanyl-tRNA synthetase; Reviewed
  3. NM_001378228.1NP_001365157.1  tryptophan--tRNA ligase, mitochondrial isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL139420, AL359823, AL590288
    Conserved Domains (1) summary
    PRK00927
    Location:34303
    PRK00927; tryptophanyl-tRNA synthetase; Reviewed
  4. NM_001378229.1NP_001365158.1  tryptophan--tRNA ligase, mitochondrial isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL139420, AL590288
    Conserved Domains (1) summary
    PRK00927
    Location:30274
    PRK00927; tryptophanyl-tRNA synthetase; Reviewed
  5. NM_001378230.1NP_001365159.1  tryptophan--tRNA ligase, mitochondrial isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL139420, AL359823, AL590288
    Conserved Domains (1) summary
    PRK00927
    Location:1266
    PRK00927; tryptophanyl-tRNA synthetase; Reviewed
  6. NM_001378231.1NP_001365160.1  tryptophan--tRNA ligase, mitochondrial isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL139420, AL359823, AL590288
    Conserved Domains (1) summary
    PRK00927
    Location:34143
    PRK00927; tryptophanyl-tRNA synthetase; Reviewed
  7. NM_015836.4NP_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, BC044575
    Consensus CDS
    CCDS900.1
    UniProtKB/Swiss-Prot
    Q9UGM6
    Related
    ENSP00000235521.4, ENST00000235521.5
    Conserved Domains (1) summary
    PRK00927
    Location:34360
    PRK00927; tryptophanyl-tRNA synthetase; Reviewed
  8. 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, ENST00000369426.9
    Conserved Domains (1) summary
    PRK00927
    Location:34212
    PRK00927; tryptophanyl-tRNA synthetase; Reviewed

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 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
    PRK00927
    Location:1266
    PRK00927; tryptophanyl-tRNA synthetase; 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_017000038.1XP_016855527.1  tryptophan--tRNA ligase, mitochondrial isoform X2

  5. 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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