full name
histidyl-tRNA synthetase 2, mitochondrial

synonyms
HARSL, HARSR, HO3, PRLTS2, HARS2, ENSG00000112855

HGNC
HGNC:4817

Entrez Gene
Gene:23438

ENSEMBL
ENSG00000112855

location
chr: 5
start: 140071011
stop: 140078903
strand: +

OMIM
OMIM:600783: HARS2 (Autosomal recessive inheritance)
OMIM:614926: ?Perrault syndrome 2

transcripts
NM_001278732.1
NM_012208.3
NM_001278731.1

pathways
Aminoacyl-tRNA biosynthesis [NCBI:83030] [KEGG:hsa00970] [PUBMED:15314242] [PUBMED:18252769]
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Mitochondrial tRNA aminoacylation [NCBI:1269711] [REACTOME:R-HSA-379726] [PUBMED:11121736]
tRNA Aminoacylation [NCBI:1269709] [REACTOME:R-HSA-379724] [PUBMED:16125937] [PUBMED:5324173] [PUBMED:18682559] [PUBMED:764868] [PUBMED:1894595] [PUBMED:5324172] [PUBMED:18767960] [PUBMED:182209]