Details for: WARS2

Gene ID: 10352

Symbol: WARS2

Ensembl ID: ENSG00000116874

Description: tryptophanyl tRNA synthetase 2, mitochondrial

Associated with

Other Information

Genular Protein ID: 908406537

Symbol: SYWM_HUMAN

Name: Tryptophan--tRNA ligase, mitochondrial

UniProtKB Accession Codes:

Q9UGM6 B1ALR1 B2R9D4 Q53FT4 Q5VUD2 Q86TQ0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 13 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 1 EMBL 9 EPD 1 Ensembl 2 GO 10 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HAMAP 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 Rhea 3 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10828066

Title: Identification and characterization of human mitochondrial tryptophanyl-tRNA synthetase.

PubMed ID: 10828066

DOI: 10.1074/jbc.275.22.16820

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 28650581

Title: Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.

PubMed ID: 28650581

DOI: 10.1002/ajmg.a.38339

PubMed ID: 29120065

Title: Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism.

PubMed ID: 29120065

DOI: 10.1111/cge.13172

PubMed ID: 28905505

Title: Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.

PubMed ID: 28905505

DOI: 10.1002/humu.23340

PubMed ID: 28236339

Title: Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the aetiology of autosomal recessive intellectual disability.

PubMed ID: 28236339

DOI: 10.1002/humu.23205

PubMed ID: 30920170

Title: Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy.

PubMed ID: 30920170

DOI: 10.1002/mgg3.654

PubMed ID: 31970218

Title: Mutation of the WARS2 Gene as the Cause of a Severe Hyperkinetic Movement Disorder.

PubMed ID: 31970218

DOI: 10.1002/mdc3.12855

PubMed ID: 34890876

Title: WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.

PubMed ID: 34890876

DOI: 10.1016/j.parkreldis.2021.11.030

PubMed ID: 35074316

Title: A relatively common hypomorphic variant in WARS2 causes monogenic disease.

PubMed ID: 35074316

DOI: 10.1016/j.parkreldis.2022.01.012

Sequence Information:

  • Length: 360
  • Mass: 40147
  • Checksum: 8C80DF6FCA214A91
  • Sequence:
    • MALHSMRKAR ERWSFIRALH KGSAAAPALQ KDSKKRVFSG IQPTGILHLG NYLGAIESWV 
RLQDEYDSVL YSIVDLHSIT VPQDPAVLRQ SILDMTAVLL ACGINPEKSI LFQQSQVSEH 
TQLSWILSCM VRLPRLQHLH QWKAKTTKQK HDGTVGLLTY PVLQAADILL YKSTHVPVGE 
DQVQHMELVQ DLAQGFNKKY GEFFPVPESI LTSMKKVKSL RDPSAKMSKS DPDKLATVRI 
TDSPEEIVQK FRKAVTDFTS EVTYDPAGRA GVSNIVAVHA AVTGLSVEEV VRRSAGMNTA 
RYKLAVADAV IEKFAPIKRE IEKLKLDKDH LEKVLQIGSA KAKELAYTVC QEVKKLVGFL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.