Gene table of MARS2 : methionyl-tRNA synthetase 2, mitochondrial

Gene-disease associations table

Disease ID	Disease name	Source of annotation with MARS2	OMIM link	Number of associated genes	genes
PS609060	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	ClinVar, OMIM, HUMSAVAR	link to OMIM	29	C12orf65, 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
PS108600	SPASTIC ATAXIA	ClinVar, OMIM	link to OMIM	7	MTPAP, SACS, MTTP, AFG3L2, KIF1C, VAMP1, MARS2

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 pathway	KEGG ID	KEGG IC
Selenocompound metabolism	hsa00450	8.6
Aminoacyl-tRNA biosynthesis	hsa00970	7.31

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Gene Expression	R-HSA-74160	2.72
Mitochondrial tRNA aminoacylation	R-HSA-379726	8.59
tRNA Aminoacylation	R-HSA-379724	7.59

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
aminoacyl-tRNA ligase activity	GO:0004812	5.93
nucleotide binding	GO:0000166	1.96
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
ATP binding	GO:0005524	2.43
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
ligase activity	GO:0016874	3.72
ligase activity, forming carbon-oxygen bonds	GO:0016875	5.93
ligase activity, forming aminoacyl-tRNA and related compounds	GO:0016876	5.93
methionine-tRNA ligase activity	GO:0004825	9.05
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
adenyl ribonucleotide binding	GO:0032559	2.41
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19