Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

Show/Hide all (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
rs912133959	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs1253426801	T>-,TT	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1553241795	C>A	Pathogenic	Intron variant, missense variant, coding sequence variant, 5 prime UTR variant
rs1571323203	C>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, missense variant

Show/Hide all (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
MIRT550793	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT550792	hsa-miR-4742-5p	PAR-CLIP	21572407
MIRT550790	hsa-miR-4269	PAR-CLIP	21572407
MIRT550791	hsa-miR-6715b-5p	PAR-CLIP	21572407
MIRT550789	hsa-miR-4514	PAR-CLIP	21572407
MIRT550788	hsa-miR-4692	PAR-CLIP	21572407
MIRT550787	hsa-miR-570-3p	PAR-CLIP	21572407
MIRT550786	hsa-miR-6792-5p	PAR-CLIP	21572407
MIRT265716	hsa-miR-4503	PAR-CLIP	21572407
MIRT550795	hsa-miR-551b-5p	PAR-CLIP	21572407
MIRT265715	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT550794	hsa-miR-646	PAR-CLIP	21572407
MIRT550793	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT550792	hsa-miR-4742-5p	PAR-CLIP	21572407
MIRT550790	hsa-miR-4269	PAR-CLIP	21572407
MIRT550791	hsa-miR-6715b-5p	PAR-CLIP	21572407
MIRT550789	hsa-miR-4514	PAR-CLIP	21572407
MIRT550788	hsa-miR-4692	PAR-CLIP	21572407
MIRT550787	hsa-miR-570-3p	PAR-CLIP	21572407
MIRT550786	hsa-miR-6792-5p	PAR-CLIP	21572407
MIRT265716	hsa-miR-4503	PAR-CLIP	21572407
MIRT1488514	hsa-miR-1224-3p	CLIP-seq
MIRT1488515	hsa-miR-145	CLIP-seq
MIRT1488516	hsa-miR-219-2-3p	CLIP-seq
MIRT1488517	hsa-miR-2964a-3p	CLIP-seq
MIRT1488518	hsa-miR-298	CLIP-seq
MIRT1488519	hsa-miR-3117-3p	CLIP-seq
MIRT1488520	hsa-miR-3143	CLIP-seq
MIRT1488521	hsa-miR-3148	CLIP-seq
MIRT1488522	hsa-miR-3163	CLIP-seq
MIRT1488523	hsa-miR-3169	CLIP-seq
MIRT1488524	hsa-miR-3660	CLIP-seq
MIRT1488525	hsa-miR-3682-3p	CLIP-seq
MIRT1488526	hsa-miR-3978	CLIP-seq
MIRT1488527	hsa-miR-4256	CLIP-seq
MIRT1488528	hsa-miR-432	CLIP-seq
MIRT1488529	hsa-miR-4457	CLIP-seq
MIRT1488530	hsa-miR-4526	CLIP-seq
MIRT1488531	hsa-miR-4680-3p	CLIP-seq
MIRT1488532	hsa-miR-4694-3p	CLIP-seq
MIRT1488533	hsa-miR-4698	CLIP-seq
MIRT1488534	hsa-miR-4731-3p	CLIP-seq
MIRT1488535	hsa-miR-4759	CLIP-seq
MIRT1488536	hsa-miR-4801	CLIP-seq
MIRT1488537	hsa-miR-519a	CLIP-seq
MIRT1488538	hsa-miR-519b-3p	CLIP-seq
MIRT1488539	hsa-miR-519c-3p	CLIP-seq
MIRT1488540	hsa-miR-570	CLIP-seq
MIRT1488541	hsa-miR-600	CLIP-seq
MIRT1488542	hsa-miR-642b	CLIP-seq
MIRT1488543	hsa-miR-1184	CLIP-seq
MIRT1488544	hsa-miR-1205	CLIP-seq
MIRT1488545	hsa-miR-136	CLIP-seq
MIRT1488546	hsa-miR-1972	CLIP-seq
MIRT1488547	hsa-miR-23a	CLIP-seq
MIRT1488548	hsa-miR-23b	CLIP-seq
MIRT1488549	hsa-miR-23c	CLIP-seq
MIRT1488550	hsa-miR-3145-5p	CLIP-seq
MIRT1488551	hsa-miR-3158-5p	CLIP-seq
MIRT1488552	hsa-miR-3682-5p	CLIP-seq
MIRT1488553	hsa-miR-4705	CLIP-seq
MIRT1488554	hsa-miR-4719	CLIP-seq
MIRT1488555	hsa-miR-508-5p	CLIP-seq
MIRT1488556	hsa-miR-544	CLIP-seq
MIRT2147128	hsa-miR-122	CLIP-seq
MIRT2147129	hsa-miR-1248	CLIP-seq
MIRT2147130	hsa-miR-1324	CLIP-seq
MIRT2147131	hsa-miR-141	CLIP-seq
MIRT2147132	hsa-miR-200a	CLIP-seq
MIRT2147133	hsa-miR-4297	CLIP-seq
MIRT2147134	hsa-miR-4633-5p	CLIP-seq
MIRT2147135	hsa-miR-526b	CLIP-seq
MIRT2147136	hsa-miR-532-5p	CLIP-seq
MIRT2147137	hsa-miR-550a	CLIP-seq
MIRT2147138	hsa-miR-574-5p	CLIP-seq
MIRT2147139	hsa-miR-648	CLIP-seq
MIRT2147140	hsa-miR-1258	CLIP-seq
MIRT2147141	hsa-miR-3159	CLIP-seq
MIRT2147142	hsa-miR-651	CLIP-seq
MIRT2367629	hsa-miR-101	CLIP-seq
MIRT2367630	hsa-miR-144	CLIP-seq
MIRT1488550	hsa-miR-3145-5p	CLIP-seq
MIRT2367631	hsa-miR-3653	CLIP-seq
MIRT2367632	hsa-miR-3658	CLIP-seq
MIRT1488535	hsa-miR-4759	CLIP-seq
MIRT1488555	hsa-miR-508-5p	CLIP-seq
MIRT2367633	hsa-miR-520a-5p	CLIP-seq
MIRT2367634	hsa-miR-525-5p	CLIP-seq
MIRT2367635	hsa-miR-582-5p	CLIP-seq
MIRT2367631	hsa-miR-3653	CLIP-seq
MIRT2367632	hsa-miR-3658	CLIP-seq
MIRT2396905	hsa-miR-4477a	CLIP-seq
MIRT1488533	hsa-miR-4698	CLIP-seq
MIRT2661100	hsa-miR-548an	CLIP-seq

Show/Hide all (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
GO:0004830	Function	Tryptophan-tRNA ligase activity	IEA
GO:0004830	Function	Tryptophan-tRNA ligase activity	TAS
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	10828066
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IBA
GO:0005759	Component	Mitochondrial matrix	IDA	28236339
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006412	Process	Translation	IEA
GO:0006418	Process	TRNA aminoacylation for protein translation	IEA
GO:0006418	Process	TRNA aminoacylation for protein translation	TAS
GO:0006436	Process	Tryptophanyl-tRNA aminoacylation	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0070183	Process	Mitochondrial tryptophanyl-tRNA aminoacylation	IBA

MIM	HGNC	e!Ensembl
604733	12730	ENSG00000116874

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

MALHSMRKARERWSFIRALHKGSAAAPALQKDSKKRVFSGIQPTGILHLGNYLGAIESWV
RLQDEYDSVLYSIVDLHSITVPQDPAVLRQSILDMTAVLLACGINPEKSILFQQSQVSEH
TQLSWILSCMVRLPRLQHLHQWKAKTTKQKHDGTVGLLTYPVLQAADILLYKSTHVPVGE
DQVQHMELVQDLAQGFNKKYGEFFPVPESILTSMKKVKSLRDPSAKMSKSDPDKLATVRI
TDSPEEIVQKFRKAVTDFTSEVTYDPAGRAGVSNIVAVHAAVTGLSVEEVVRRSAGMNTA
RYKLAVADAVIEKFAPIKREIEKLKLDKDHLEKVLQIGSAKAKELAYTVCQEVKKLVGFL

Sequence length

360

Interactions

View interactions

	KEGG		Reactome
	Aminoacyl-tRNA biosynthesis		Mitochondrial tRNA aminoacylation

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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 RCV000509069 RCV000509074 RCV000995910 RCV001254139
Parkinsonism-dystonia 3, childhood-onset	Likely pathogenic; Pathogenic	rs11552864, rs1648733523, rs1571323203, rs137890886	RCV002253067 RCV002289073 RCV001836927 RCV001836976
WARS2-related disorder	Likely pathogenic; Pathogenic	rs757600616, rs145867327	RCV004739603 RCV003323579

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Mitochondrial disease	Uncertain significance	rs563341344	RCV006249855
Neurodevelopmental disorder	Conflicting classifications of pathogenicity	rs139548132	RCV004017657
See cases	Uncertain significance	rs1557929151	RCV003232624

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abdominal Injuries	Associate	38477908
Breast Neoplasms	Associate	24098497
Carcinoma Hepatocellular	Associate	36685508
Glucocorticoid Receptor Deficiency	Associate	30026463
Immunologic Deficiency Syndromes	Inhibit	29120065
Immunologic Deficiency Syndromes	Associate	29783990
Intellectual Disability	Associate	29120065
Intestinal Pseudo Obstruction	Associate	38477908
Leukoencephalopathies	Associate	29120065
Neoplasms	Associate	26209610
Neoplasms Adipose Tissue	Associate	37889180
Obesity	Associate	31975641
Osteoporosis	Associate	31975641
Parkinson Disease Secondary	Associate	29120065
Spinocerebellar Ataxias	Associate	29783990
Triple Negative Breast Neoplasms	Associate	26209610

WARS2 (tryptophanyl tRNA synthetase 2, mitochondrial)