IARS2
entrez
55699
canonical
uniprot
Q9NSE4
canonical
ensembl
ENSG00000067704
resolver
ensp
ENSP00000355889
resolver
enst
ENST00000366922
resolver
genesymbol
IARS2
resolver
hgnc
HGNC:29685
resolver
uniprot
B2RPG8
resolver
uniprot
Q1M2P9
resolver
uniprot
Q6PI85
resolver
uniprot
Q7L439
resolver
uniprot
Q86WU9
resolver
uniprot
Q96D91
resolver
uniprot
Q9H9Q8
resolver
uniprot
Q9NW42
resolver
uniprot_entry
SYIM_HUMAN
resolver
uniprot_sec
B2RPG8
resolver
uniprot_sec
Q1M2P9
resolver
uniprot_sec
Q6PI85
resolver
uniprot_sec
Q7L439
resolver
uniprot_sec
Q86WU9
resolver
uniprot_sec
Q96D91
resolver
uniprot_sec
Q9H9Q8
resolver
uniprot_sec
Q9NW42
resolver
amino_acid_sequence
MRWGLRPRGPGAAALATARSLWGTPRLPCSPGWQGATKRLLVRSVSGASNHQPNSNSGRYRDTVLLPQTSFPMKLLGRQQPDTELEIQQKCGFSELYSWQRERKVKTEFCLHDGPPYANGDPHVGHALNKILKDIANRFHMMNGSKIHFVPGWDCHGLPIEIKVLSELGREAQNLSAMEIRKKARSFAKAAIEKQKSAFIRWGIMADWNNCYYTFDGKYEAKQLRTFYQMYDKGLVYRSYKPVFWSPSSRTALAEAELEYNPEHVSRSIYVKFPLLKPSPKLASLIDGSSPVSILVWTTQPWTIPANEAVCYMPESKYAVVKCSKSGDLYVLAADKVASVASTLETTFETISTLSGVDLENGTCSHPLIPDKASPLLPANHVTMAKGTGLVHTAPAHGMEDYGVASQHNLPMDCLVDEDGVFTDVAGPELQNKAVLEEGTDVVIKMLQTAKNLLKEEKLVHSYPYDWRTKKPVVIRASKQWFINITDIKTAAKELLKKVKFIPGSALNGMVEMMDRRPYWCISRQRVWGVPIPVFHHKTKDEYLINSQTTEHIVKLVEQHGSDIWWTLPPEQLLPKEVLSEVGGPDALEYVPGQDILDIWFDSGTSWSYVLPGPDQRADLYLEGKDQLGGWFQSSLLTSVAARKRAPYKTVIVHGFTLGEKGEKMSKSLGNVIHPDVVVNGGQDQSKEPPYGADVLRWWVADSNVFTEVAIGPSVLNAARDDISKLRNTLRFLLGNVADFNPETDSIPVNDMYVIDQYMLHLLQDLANKITELYKQYDFGKVVRLLRTFYTRELSNFYFSIIKDRLYCEKENDPKRRSCQTALVEILDVIVRSFAPILPHLAEEVFQHIPYIKEPKSVFRTGWISTSSIWKKPGLEEAVESACAMRDSFLGSIPGKNAAEYKVITVIEPGLLFEIIEMLQSEETSSTSQLNELMMASESTLLAQEPREMTADVIELKGKFLINLEGGDIREESSYKVIVMPTTKEKCPRCWKYTAESSDTLCPRCAEVVSGK
uniprot
proteins
disease_involvement
DISEASE: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS) [MIM:616007]: An autosomal recessive disorder characterized by cataracts, short-stature secondary to growth hormone deficiency, sensorineural hearing deficit, peripheral sensory neuropathy, skeletal dysplasia, scoliosis, and facial dysmorphism. {ECO:0000269|PubMed:25130867, ECO:0000269|PubMed:28328135, ECO:0000269|PubMed:29914532, ECO:0000269|PubMed:30041933, ECO:0000269|PubMed:30419932}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.1.1.5
uniprot
proteins
function
FUNCTION: Aminoacyl-tRNA synthetase that catalyzes the specific attachment of isoleucine to its cognate tRNA (tRNA(Ile)). {ECO:0000250|UniProtKB:P00956}.
uniprot
proteins
mass_dalton
113792
uniprot
proteins
protein_family
Class-I aminoacyl-tRNA synthetase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25130867
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28328135
uniprot
proteins
pubmed
29914532
uniprot
proteins
pubmed
30041933
uniprot
proteins
pubmed
30419932
uniprot
proteins
sequence_length
1012
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000305}.
uniprot
proteins