Gene Gene information from NCBI Gene database.
Entrez ID 10352
Gene name Tryptophanyl tRNA synthetase 2, mitochondrial
Gene symbol WARS2
Synonyms (NCBI Gene)
NEMMLASPKDYS3TrpRSmtTrpRS
Chromosome 1
Chromosome location 1p12
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 prot
SNPs SNP information provided by dbSNP.
9
SNP ID Visualize variation Clinical significance Consequence
rs139194636 T>C Likely-pathogenic Missense variant, 3 prime UTR variant, coding sequence variant
rs145867327 T>A Pathogenic, uncertain-significance Coding sequence variant, 3 prime UTR variant, missense variant
rs746478253 G>- Uncertain-significance, pathogenic 3 prime UTR variant, coding sequence variant, frameshift variant
rs757600616 G>A Likely-pathogenic 3 prime UTR variant, coding sequence variant, stop gained
rs772867219 GAA>- Uncertain-significance, pathogenic Intron variant, inframe deletion, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
99
miRTarBase ID miRNA Experiments Reference
MIRT027840 hsa-miR-98-5p Microarray 19088304
MIRT032492 hsa-let-7b-5p Proteomics 18668040
MIRT550795 hsa-miR-551b-5p PAR-CLIP 21572407
MIRT265715 hsa-miR-1277-5p PAR-CLIP 21572407
MIRT550794 hsa-miR-646 PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001570 Process Vasculogenesis IEA
GO:0004812 Function Aminoacyl-tRNA ligase activity IEA
GO:0004830 Function Tryptophan-tRNA ligase activity IBA
GO:0004830 Function Tryptophan-tRNA ligase activity IDA 10828066
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604733 12730 ENSG00000116874
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UGM6
Protein name Tryptophan--tRNA ligase, mitochondrial (EC 6.1.1.2) ((Mt)TrpRS) (Tryptophanyl-tRNA synthetase) (TrpRS)
Protein function Catalyzes the attachment of tryptophan to tRNA(Trp) in a two-step reaction: tryptophan is first activated by ATP to form Trp-AMP and then transferred to the acceptor end of tRNA(Trp).
PDB 5EKD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00579 tRNA-synt_1b 30 315 tRNA synthetases class I (W and Y) Family
Tissue specificity TISSUE SPECIFICITY: Brain. {ECO:0000269|PubMed:28236339}.
Sequence
Sequence length 360
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Aminoacyl-tRNA biosynthesis   Mitochondrial tRNA aminoacylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures Likely pathogenic; Pathogenic rs765904496, rs2101095108, rs745543661, rs757600616, rs145867327, rs1553241795, rs912133959, rs1571323203, rs137890886 RCV001837432
RCV002249200
RCV002249201
RCV001801509
RCV000509075
View all (4 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Parkinsonism-dystonia 3, childhood-onset Likely pathogenic; Pathogenic rs11552864, rs1648733523, rs1571323203, rs137890886 RCV002253067
RCV002289073
RCV001836927
RCV001836976
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
WARS2-related disorder Likely pathogenic; Pathogenic rs757600616, rs145867327 RCV004739603
RCV003323579
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Mitochondrial disease Uncertain significance ClinVar
ClinGen, Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL DISEASES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Absence of septum pellucidum Absence Of Septum Pellucidum HPO_DG
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia GWASCAT_DG 28196072
★☆☆☆☆
Found in Text Mining only
Autistic behavior Autism HPO_DG
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 24098497 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36685508 Associate
★☆☆☆☆
Found in Text Mining only
Central visual impairment Central Visual Impairment HPO_DG
★☆☆☆☆
Found in Text Mining only
Cerebellar atrophy Cerebellar atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Cerebral atrophy Cerebral Atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Clumsiness - motor delay Motor delay HPO_DG
★☆☆☆☆
Found in Text Mining only
Cortical Dysplasia Cortical Dysplasia HPO_DG
★☆☆☆☆
Found in Text Mining only