NARS2
entrez
79731
canonical
uniprot
Q96I59
canonical
ensembl
ENSG00000137513
resolver
ensp
ENSP00000281038
resolver
ensp
ENSP00000435298
resolver
ensp
ENSP00000511817
resolver
ensp
ENSP00000511818
resolver
ensp
ENSP00000511819
resolver
ensp
ENSP00000511824
resolver
ensp
ENSP00000511826
resolver
ensp
ENSP00000511829
resolver
ensp
ENSP00000511833
resolver
ensp
ENSP00000511835
resolver
ensp
ENSP00000511838
resolver
ensp
ENSP00000605382
resolver
ensp
ENSP00000605383
resolver
ensp
ENSP00000650962
resolver
ensp
ENSP00000650963
resolver
ensp
ENSP00000650964
resolver
ensp
ENSP00000650965
resolver
ensp
ENSP00000650966
resolver
ensp
ENSP00000740308
resolver
enst
ENST00000529771
resolver
enst
ENST00000695344
resolver
enst
ENST00000695354
resolver
enst
ENST00000695358
resolver
enst
ENST00000695366
resolver
genesymbol
NARS2
resolver
hgnc
HGNC:26274
resolver
uniprot
A0A8Q3SHL5
resolver
uniprot
A0A8Q3SHT7
resolver
uniprot
A0A8Q3WKF4
resolver
uniprot
B3KPX5
resolver
uniprot
G3V178
resolver
uniprot
H0YE96
resolver
uniprot
Q9H5H1
resolver
uniprot_entry
A0A8Q3SHL5_HUMAN
resolver
uniprot_entry
A0A8Q3SHT7_HUMAN
resolver
uniprot_entry
A0A8Q3WKF4_HUMAN
resolver
uniprot_entry
B3KPX5_HUMAN
resolver
uniprot_entry
H0YE96_HUMAN
resolver
uniprot_entry
Q9H5H1_HUMAN
resolver
uniprot_entry
SYNM_HUMAN
resolver
uniprot_sec
G3V178
resolver
amino_acid_sequence
MLGVRCLLRSVRFCSSAPFPKHKPSAKLSVRDALGAQNASGERIKIQGWIRSVRSQKEVLFLHVNDGSSLESLQVVADSGLDSRELNFGSSVEVQGQLIKSPSKRQNVELKAEKIKVIGNCDAKDFPIKYKERHPLEYLRQYPHFRCRTNVLGSILRIRSEATAAIHSFFKDSGFVHIHTPIITSNDSEGAGELFQLEPSGKLKVPEENFFNVPAFLTVSGQLHLEVMSGAFTQVFTFGPTFRAENSQSRRHLAEFYMIEAEISFVDSLQDLMQVIEELFKATTMMVLSKCPEDVELCHKFIAPGQKDRLEHMLKNNFLIISYTEAVEILKQASQNFTFTPEWGADLRTEHEKYLVKHCGNIPVFVINYPLTLKPFYMRDNEDGPQHTVAAVDLLVPGVGELFGGGLREERYHFLEERLARSGLTEVYQWYLDLRRFGSVPHGGFGMGFERYLQCILGVDNIKDVIPFPRFPHSCLL
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 24 (COXPD24) [MIM:616239]: An autosomal recessive mitochondrial disorder with wide phenotypic variability. Some patients have a milder form affecting only skeletal muscle, whereas others may have a more severe disorder, reminiscent of Alpers syndrome. Alpers syndrome is a progressive neurodegenerative disorder that presents in infancy or early childhood and is characterized by diffuse degeneration of cerebral gray matter. {ECO:0000269|PubMed:25385316, ECO:0000269|PubMed:25629079, ECO:0000269|PubMed:25807530, ECO:0000269|PubMed:35558980}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Deafness, autosomal recessive, 94 (DFNB94) [MIM:618434]: A form of non-syndromic, sensorineural deafness characterized by prelingual, profound, bilateral hearing impairment. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:25807530}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.1.1.22
uniprot
proteins
function
FUNCTION: Mitochondrial aminoacyl-tRNA synthetase that catalyzes the specific attachment of the asparagine amino acid (aa) to the homologous transfer RNA (tRNA), further participating in protein synthesis (PubMed:25385316). The reaction occurs in a two steps: asparagine is first activated by ATP to form Asn-AMP and then transferred to the acceptor end of tRNA(Asn) (Probable). {ECO:0000269|PubMed:25385316, ECO:0000305}.
uniprot
proteins
mass_dalton
54090
uniprot
proteins
protein_family
Class-II aminoacyl-tRNA synthetase family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15779907
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25385316
uniprot
proteins
pubmed
25629079
uniprot
proteins
pubmed
25807530
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
35558980
uniprot
proteins
sequence_length
477
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250}. Mitochondrion {ECO:0000269|PubMed:25807530, ECO:0000269|PubMed:35558980}.
uniprot
proteins