TARS2 (threonyl-tRNA synthetase 2, mitochondrial)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 80222
Gene name Threonyl-tRNA synthetase 2, mitochondrial
Gene symbol TARS2
Synonyms (NCBI Gene)
COXPD21TARSL1thrRS
Chromosome 1
Chromosome location 1q21.2
Summary This gene encodes a member of the class-II aminoacyl-tRNA synthetase family. The encoded protein is a mitochondrial aminoacyl-tRNA synthetase. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromo
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs367870620 C>T Likely-pathogenic Non coding transcript variant, coding sequence variant, stop gained, intron variant
rs587777593 C>T Pathogenic Coding sequence variant, non coding transcript variant, missense variant, intron variant
miRNA miRNA information provided by mirtarbase database.
9
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (9)
miRTarBase ID miRNA Experiments Reference
MIRT041757 hsa-miR-484 CLASH 23622248
MIRT041757 hsa-miR-484 CLASH 23622248
MIRT2123559 hsa-miR-2278 CLIP-seq
MIRT2123560 hsa-miR-3166 CLIP-seq
MIRT2123561 hsa-miR-4433 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (21)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002161 Function Aminoacyl-tRNA deacylase activity IDA 26811336
GO:0004812 Function Aminoacyl-tRNA ligase activity IEA
GO:0004829 Function Threonine-tRNA ligase activity IBA
GO:0004829 Function Threonine-tRNA ligase activity IDA 26811336
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612805 30740 ENSG00000143374
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BW92
Protein name Threonine--tRNA ligase, mitochondrial (EC 6.1.1.3) (Threonyl-tRNA synthetase) (ThrRS) (Threonyl-tRNA synthetase-like 1)
Protein function Catalyzes the attachment of threonine to tRNA(Thr) in a two-step reaction: threonine is first activated by ATP to form Thr-AMP and then transferred to the acceptor end of tRNA(Thr). Also edits incorrectly charged tRNA(Thr) via its editing domain
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02824 TGS 61 → 121 TGS domain Domain
PF07973 tRNA_SAD 228 → 277 Threonyl and Alanyl tRNA synthetase second additional domain Domain
PF00587 tRNA-synt_2b 394 → 603 tRNA synthetase class II core domain (G, H, P, S and T) Domain
PF03129 HGTP_anticodon 615 → 706 Anticodon binding domain Domain
Sequence 
MALYQRWRCLRLQGLQACRLHTAVVSTPPRWLAERLGLFEELWAAQVKRLASMAQKEPRT
IKISLPGGQKIDAVAWNTTPYQLARQISSTLADTAVAAQVNGEPYDLERPLETDSDLRFL
TFDSPEGKAVFWHSSTHVLGAAAEQFLGAVLCRGPSTEYGFYHDFFLGKERTIRGSELPV
LERICQELTAAARPFRRLEASRDQLRQLFKDNPFKLHLIEEKVTGPTATVYGCGTLVDLC
QGPHLRHTGQIGGLKLLSNSSSLWRSSGAPETLQRVSGISFPTTELLRVWEAWREEAELR
DHRRIGKEQELFFFHELSPGSCFFLPRGTRVYNALVAFIRAEYAHRGFSEVKTPTLFSTK
LWEQSGHWEHYQEDMFAVQPPGSDRPPSSQSDDSTRHITDTLALKPMNCPAHCLMFAHRP
RSWRELPLRLADFGALHRAEASGGLGGLTRLRCFQQDDAHIFCTTDQLEAEIQSCLDFLR
SVYAVLGFSFRLALSTRPSGFLGDPCLWDQAEQVLKQALKEFGEPWDLNSGDGAFYGPKI
DVHLHDALGRPHQCGTIQLDFQLPLRFDLQYKGQAGALERPVLIHRAVLGSVERLLGVLA
ESCGGKWPLWLSPFQVVVIPVGSEQEEYAKEAQQSLRAAGLVSDLDADSGLTLSRRIRRA
QLAHYNFQFVVGQKEQSKRTVNIRTRDNRRLGEWDLPEAVQRLVELQNTRVPNAEEIF
Sequence length 718
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Aminoacyl-tRNA biosynthesis  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Combined oxidative phosphorylation defect type 21 Likely pathogenic; Pathogenic rs2102494691, rs2102510285, rs758088548, rs756855066, rs587777593, rs587777594, rs1322913410, rs2526263331, rs781477512, rs367984492, rs778133443 RCV001527459
RCV001527461
RCV001837554
RCV001837555
RCV000132557
RCV000132558
RCV003315457
RCV003315459
RCV003315461
RCV003315462
RCV003315463
Show/Hide Unknown Diseases (14)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs112103825 RCV005905677
Colon adenocarcinoma Uncertain significance rs748946128 RCV005928397
Congenital blindness Uncertain significance rs760208518 RCV002226780
Failure to thrive Uncertain significance rs760208518 RCV002226780
Show/Hide Text Mining Associations (14)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Brain Diseases Associate 39394138
Carcinoma Hepatocellular Associate 37956648
Cerebral Infarction Associate 35862251
Combined Oxidative Phosphorylation Deficiency 1 Associate 33153448
Congenital Abnormalities Associate 39394138
Epilepsy Associate 39394138
Genetic Diseases Inborn Associate 24827421
Menstruation Disturbances Associate 39394138
Mitochondrial Diseases Associate 24827421
Mitochondrial Encephalomyopathies Associate 24827421, 26811336, 33153448, 39394138