Gene table of EARS2 : glutamyl-tRNA synthetase 2, mitochondrial

Gene-disease associations table

Disease IDDisease nameSource of annotation with EARS2OMIM linkNumber of associated genesgenes
PS609060COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCYClinVar, OMIM, HUMSAVAR link to OMIM 29C12orf65, FARS2, GFM1, TARS2, MTFMT, MTO1, AIFM1, EARS2, NARS2, SFXN4, MRPS22, PNPT1, TSFM, ATP5A1, LYRM4, SLC25A26, MRPS16, MRPL3, TUFM, TRMT5, MRPL44, GTPBP3, VARS2, CARS2, RMND1, ELAC2, AARS2, TXN2, MARS2

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Annotation of the gene EARS2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Porphyrin and chlorophyll metabolismhsa008607.41
Aminoacyl-tRNA biosynthesishsa009707.31
Metabolic pathwayshsa011002.49
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Gene ExpressionR-HSA-741602.72
Mitochondrial tRNA aminoacylationR-HSA-3797268.59
tRNA AminoacylationR-HSA-3797247.59
Associated GO terms for Molecular function
GO termGO IDGO IC
purine ribonucleoside triphosphate bindingGO:00356392.22
bindingGO:00054880.18
nucleic acid bindingGO:00036761.44
heterocyclic compound bindingGO:19013631.06
nucleoside phosphate bindingGO:19012651.96
nucleoside bindingGO:00018822.21
aminoacyl-tRNA ligase activityGO:00048125.93
glutamate-tRNA ligase activityGO:00048189.05
nucleotide bindingGO:00001661.96
purine nucleoside bindingGO:00018832.22
ribonucleoside bindingGO:00325492.22
purine nucleotide bindingGO:00170762.19
ATP bindingGO:00055242.43
small molecule bindingGO:00360941.89
catalytic activityGO:00038241.05
tRNA bindingGO:00000495.95
ligase activityGO:00168743.72
ligase activity, forming carbon-oxygen bondsGO:00168755.93
ligase activity, forming aminoacyl-tRNA and related compoundsGO:00168765.93
glutamate-tRNA(Gln) ligase activityGO:00505619.74
adenyl nucleotide bindingGO:00305542.4
carbohydrate derivative bindingGO:00973672.03
organic cyclic compound bindingGO:00971591.05
adenyl ribonucleotide bindingGO:00325592.41
RNA bindingGO:00037232.36
purine ribonucleotide bindingGO:00325552.2
purine ribonucleoside bindingGO:00325502.22
ribonucleotide bindingGO:00325532.19