HARS2
entrez
23438
canonical
uniprot
P49590
canonical
ensembl
ENSG00000112855
resolver
ensp
ENSP00000230771
resolver
ensp
ENSP00000423616
resolver
ensp
ENSP00000493571
resolver
ensp
ENSP00000494965
resolver
ensp
ENSP00000495350
resolver
ensp
ENSP00000496011
resolver
ensp
ENSP00000613865
resolver
enst
ENST00000642970
resolver
enst
ENST00000643996
resolver
enst
ENST00000645065
resolver
enst
ENST00000646468
resolver
genesymbol
HARS2
resolver
genesymbol_syn
HARSL
resolver
genesymbol_syn
HARSR
resolver
genesymbol_syn
HO3
resolver
hgnc
HGNC:4817
resolver
uniprot
A0A2R8Y5P7
resolver
uniprot
A0A2R8Y6I1
resolver
uniprot
B4DDN8
resolver
uniprot
B4DDY8
resolver
uniprot_entry
A0A2R8Y5P7_HUMAN
resolver
uniprot_entry
A0A2R8Y6I1_HUMAN
resolver
uniprot_entry
B4DDN8_HUMAN
resolver
uniprot_entry
SYHM_HUMAN
resolver
uniprot_sec
B4DDY8
resolver
amino_acid_sequence
MPLLGLLPRRAWASLLSQLLRPPCASCTGAVRCQSQVAEAVLTSQLKAHQEKPNFIIKTPKGTRDLSPQHMVVREKILDLVISCFKRHGAKGMDTPAFELKETLTEKYGEDSGLMYDLKDQGGELLSLRYDLTVPFARYLAMNKVKKMKRYHVGKVWRRESPTIVQGRYREFCQCDFDIAGQFDPMIPDAECLKIMCEILSGLQLGDFLIKVNDRRIVDGMFAVCGVPESKFRAICSSIDKLDKMAWKDVRHEMVVKKGLAPEVADRIGDYVQCHGGVSLVEQMFQDPRLSQNKQALEGLGDLKLLFEYLTLFGIADKISFDLSLARGLDYYTGVIYEAVLLQTPTQAGEEPLNVGSVAAGGRYDGLVGMFDPKGHKVPCVGLSIGVERIFYIVEQRMKTKGEKVRTTETQVFVATPQKNFLQERLKLIAELWDSGIKAEMLYKNNPKLLTQLHYCESTGIPLVVIIGEQELKEGVIKIRSVASREEVAIKRENFVAEIQKRLSES
uniprot
proteins
disease_involvement
DISEASE: Perrault syndrome 2 (PRLTS2) [MIM:614926]: An autosomal recessive, sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. {ECO:0000269|PubMed:21464306, ECO:0000269|PubMed:31449985}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.1.1.21
uniprot
proteins
function
FUNCTION: Mitochondrial aminoacyl-tRNA synthetase that catalyzes the ATP-dependent ligation of histidine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (His-AMP). {ECO:0000269|PubMed:21464306}.
uniprot
proteins
mass_dalton
56888
uniprot
proteins
protein_family
Class-II aminoacyl-tRNA synthetase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21464306
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
31449985
uniprot
proteins
pubmed
7755634
uniprot
proteins
sequence_length
506
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:21464306}.
uniprot
proteins