Gene table of IARS2 : isoleucyl-tRNA synthetase 2, mitochondrial

Gene-disease associations table

Disease ID	Disease name	Source of annotation with IARS2	OMIM link	Number of associated genes	genes
256000	LEIGH SYNDROME	ClinVar	link to OMIM	27	MT-ND5, NDUFAF2, NDUFA12, NDUFAF6, NDUFV1, NDUFA10, MTFMT, NDUFS8, BCS1L, SDHA, MT-CO3, COX10, NDUFA2, ECHS1, NDUFS3, MT-ATP6, SURF1, MT-ND3, IARS2, NARS2, NDUFS7, COX15, NDUFAF5, POLG, FOXRED1, NDUFS4, NDUFA9
616007	CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	IARS2

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
binding	GO:0005488	0.18
aminoacyl-tRNA editing activity	GO:0002161	7.25
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
hydrolase activity	GO:0016787	1.9
hydrolase activity, acting on ester bonds	GO:0016788	3.1
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
carboxylic ester hydrolase activity	GO:0052689	4.81
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
isoleucine-tRNA ligase activity	GO:0004822	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