ENSG00000143374


Homo sapiens

Features
Gene ID: ENSG00000143374
  
Biological name :TARS2
  
Synonyms : Q9BW92 / TARS2 / threonyl-tRNA synthetase 2, mitochondrial
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q21.2
Gene start: 150487364
Gene end: 150507609
  
Corresponding Affymetrix probe sets: 221189_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000475847
Ensembl peptide - ENSP00000415002
Ensembl peptide - ENSP00000475551
Ensembl peptide - ENSP00000358047
Ensembl peptide - ENSP00000358050
Ensembl peptide - ENSP00000358060
NCBI entrez gene - 80222     See in Manteia.
OMIM - 612805
RefSeq - XM_017002395
RefSeq - NM_001271895
RefSeq - NM_001271896
RefSeq - NM_025150
RefSeq - XM_006711555
RefSeq - XM_006711556
RefSeq - XM_017002394
RefSeq Peptide - NP_001258824
RefSeq Peptide - NP_001258825
RefSeq Peptide - NP_079426
swissprot - U3KQG0
swissprot - Q5T5E9
swissprot - F6S7Q7
swissprot - Q9BW92
swissprot - U3KQ50
Ensembl - ENSG00000143374
  
Related genetic diseases (OMIM): 615918 - ?Combined oxidative phosphorylation deficiency 21, 615918
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 LO017852.1ENSDARG00000075385Danio rerio
 TARS2ENSGALG00000043416Gallus gallus
 Tars2ENSMUSG00000028107Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
A2RTX5 / TARSL2 / threonyl-tRNA synthetase like 2ENSG0000018541853
TARS / P26639 / threonyl-tRNA synthetaseENSG0000011340752
MRPL39 / Q9NYK5 / mitochondrial ribosomal protein L39ENSG0000015471910


Protein motifs (from Interpro)
Interpro ID Name
 IPR002314  Aminoacyl-tRNA synthetase, class II (G/ P/ S/T)
 IPR002320  Threonine-tRNA ligase, class IIa
 IPR004095  TGS
 IPR004154  Anticodon-binding
 IPR006195  Aminoacyl-tRNA synthetase, class II
 IPR012675  Beta-grasp domain superfamily
 IPR012676  TGS-like
 IPR012947  Threonyl/alanyl tRNA synthetase, SAD
 IPR018163  Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain superfamily
 IPR033728  Threonine-tRNA ligase catalytic core domain
 IPR036621  Anticodon-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006412 translation IEA
 biological_processGO:0006418 tRNA aminoacylation for protein translation IEA
 biological_processGO:0006435 threonyl-tRNA aminoacylation IEA
 biological_processGO:0043039 tRNA aminoacylation IEA
 biological_processGO:0070159 mitochondrial threonyl-tRNA aminoacylation TAS
 biological_processGO:0106074 aminoacyl-tRNA metabolism involved in translational fidelity IEA
 cellular_componentGO:0005575 cellular_component ND
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IBA
 cellular_componentGO:0005759 mitochondrial matrix IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0002161 aminoacyl-tRNA editing activity IDA
 molecular_functionGO:0004812 aminoacyl-tRNA ligase activity IEA
 molecular_functionGO:0004829 threonine-tRNA ligase activity IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016874 ligase activity IEA
 molecular_functionGO:0042803 protein homodimerization activity IDA


Pathways (from Reactome)
Pathway description
Mitochondrial tRNA aminoacylation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001397 Hepatic steatosis 
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 HP:0002079 Hypoplasia of the corpus callosum "Underdevelopment of the corpus callosum." [HPO:curators]
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 HP:0002151 Increased serum lactate "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism." [HPO:curators]
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 HP:0002509 Limb hypertonia 
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 HP:0003577 Onset at birth 
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 HP:0008936 Muscular hypotonia of the trunk "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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