MARS2
entrez
92935
canonical
uniprot
Q96GW9
canonical
ensembl
ENSG00000247626
resolver
ensp
ENSP00000282276
resolver
enst
ENST00000282276
resolver
genesymbol
MARS2
resolver
hgnc
HGNC:25133
resolver
uniprot
A0AVC3
resolver
uniprot
Q76E79
resolver
uniprot
Q8IW62
resolver
uniprot
Q8N7N4
resolver
uniprot_entry
SYMM_HUMAN
resolver
uniprot_sec
A0AVC3
resolver
uniprot_sec
Q76E79
resolver
uniprot_sec
Q8IW62
resolver
uniprot_sec
Q8N7N4
resolver
amino_acid_sequence
MLRTSVLRLLGRTGASRLSLLEDFGPRYYSSGSLSAGDDACDVRAYFTTPIFYVNAAPHIGHLYSALLADALCRHRRLRGPSTAATRFSTGTDEHGLKIQQAAATAGLAPTELCDRVSEQFQQLFQEAGISCTDFIRTTEARHRVAVQHFWGVLKSRGLLYKGVYEGWYCASDECFLPEAKVTQQPGPSGDSFPVSLESGHPVSWTKEENYIFRLSQFRKPLQRWLRGNPQAITPEPFHHVVLQWLDEELPDLSVSRRSSHLHWGIPVPGDDSQTIYVWLDALVNYLTVIGYPNAEFKSWWPATSHIIGKDILKFHAIYWPAFLLGAGMSPPQRICVHSHWTVCGQKMSKSLGNVVDPRTCLNRYTVDGFRYFLLRQGVPNWDCDYYDEKVVKLLNSELADALGGLLNRCTAKRINPSETYPAFCTTCFPSEPGLVGPSVRAQAEDYALVSAVATLPKQVADHYDNFRIYKALEAVSSCVRQTNGFVQRHAPWKLNWESPVDAPWLGTVLHVALECLRVFGTLLQPVTPSLADKLLSRLGVSASERSLGELYFLPRFYGHPCPFEGRRLGPETGLLFPRLDQSRTWLVKAHRT
uniprot
proteins
disease_involvement
DISEASE: Spastic ataxia 3, autosomal recessive (SPAX3) [MIM:611390]: A neurologic disorder characterized by cerebellar ataxia, ataxic gait, spasticity, and hyperreflexia. Other variable features include dysarthria, dysmetria, mild cognitive impairment, urinary urgency and dystonic positioning. {ECO:0000269|PubMed:22448145}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Combined oxidative phosphorylation deficiency 25 (COXPD25) [MIM:616430]: A mitochondrial disorder resulting in developmental delay, growth failure, and sensorineural hearing loss. {ECO:0000269|PubMed:25754315}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.1.1.10
uniprot
proteins
mass_dalton
66591
uniprot
proteins
protein_family
Class-I aminoacyl-tRNA synthetase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15274629
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22448145
uniprot
proteins
pubmed
25754315
uniprot
proteins
pubmed
25944712
uniprot
proteins
sequence_length
593
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000305}.
uniprot
proteins