Gene table of AARS2 : alanyl-tRNA synthetase 2, mitochondrial

Gene-disease associations table

Disease ID	Disease name	Source of annotation with AARS2	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
615889	LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	AARS2

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
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
zinc ion binding	GO:0008270	2.66
nucleic acid binding	GO:0003676	1.44
nucleotide binding	GO:0000166	1.96
amino acid binding	GO:0016597	5.71
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
anion binding	GO:0043168	4.17
cation binding	GO:0043169	1.4
	GO:0004813	8.64
aminoacyl-tRNA ligase activity	GO:0004812	5.93
transition metal ion binding	GO:0046914	2.48
ion binding	GO:0043167	1.36
nucleoside phosphate binding	GO:1901265	1.96
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
metal ion binding	GO:0046872	1.41
ATP binding	GO:0005524	2.43
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
tRNA binding	GO:0000049	5.95
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
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
carboxylic acid binding	GO:0031406	4.64
adenyl ribonucleotide binding	GO:0032559	2.41
RNA binding	GO:0003723	2.36
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19
binding	GO:0005488	0.18