Property Summary

NCBI Gene PubMed Count 13
PubMed Score 37.97
PubTator Score 8.47

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
atypical teratoid/rhabdoid tumor 1095 2.1945183958292E-6
medulloblastoma, large-cell 6234 2.65895061489759E-6
lung cancer 4473 1.10429937997511E-5
group 3 medulloblastoma 2254 4.10017571437663E-5
acute myeloid leukemia 785 0.00713053165309334
Disease Target Count Z-score Confidence
Leigh disease 81 3.252 1.6
Nonsyndromic deafness 121 0.0 4.0
Disease Target Count
Leigh syndrome 34

Expression

  Differential Expression (5)

Disease log2 FC p
group 3 medulloblastoma 1.600 0.000
atypical teratoid/rhabdoid tumor 1.500 0.000
medulloblastoma, large-cell 1.500 0.000
lung cancer 1.900 0.000
acute myeloid leukemia -1.100 0.007

Synonym

Accession Q96I59 G3V178
Symbols SLM5
asnRS
DFNB94

Gene

  Ortholog (14)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Cow OMA EggNOG
Pig OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Platypus OMA EggNOG
Chicken OMA EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG
C. elegans OMA EggNOG Inparanoid
S.cerevisiae OMA EggNOG Inparanoid

Gene RIF (6)

PMID Text
25807530 In these cells we show that a decrease in oxygen consumption rates (OCR) and electron transport chain (ETC) activity can be rescued by overexpression of wild type NARS2
25649651 Genome-wide SNP analysis identified multiple suggestive novel loci and two of them were also significant in gene-based analysis (CCDC85C and NARS2) that survived after controlling for false-discovery rate at 0.05.
25385316 A variant in NARS2 results in a combined OXPHOS complex deficiency involving complex I and IV, making NARS2 a new member of disease-associated aminoacyl-tRNA synthetases.
22190034 HIV-1 MA is identified to have a physical interaction with asparaginyl-tRNA synthetase 2, mitochondrial (NARS2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses
20877624 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

AA Sequence

MLGVRCLLRSVRFCSSAPFPKHKPSAKLSVRDALGAQNASGERIKIQGWIRSVRSQKEVLFLHVNDGSSL      1 - 70
ESLQVVADSGLDSRELNFGSSVEVQGQLIKSPSKRQNVELKAEKIKVIGNCDAKDFPIKYKERHPLEYLR     71 - 140
QYPHFRCRTNVLGSILRIRSEATAAIHSFFKDSGFVHIHTPIITSNDSEGAGELFQLEPSGKLKVPEENF    141 - 210
FNVPAFLTVSGQLHLEVMSGAFTQVFTFGPTFRAENSQSRRHLAEFYMIEAEISFVDSLQDLMQVIEELF    211 - 280
KATTMMVLSKCPEDVELCHKFIAPGQKDRLEHMLKNNFLIISYTEAVEILKQASQNFTFTPEWGADLRTE    281 - 350
HEKYLVKHCGNIPVFVINYPLTLKPFYMRDNEDGPQHTVAAVDLLVPGVGELFGGGLREERYHFLEERLA    351 - 420
RSGLTEVYQWYLDLRRFGSVPHGGFGMGFERYLQCILGVDNIKDVIPFPRFPHSCLL                 421 - 477
//

Text Mined References (18)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25807530 2015 Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
25649651 2015 Genetic Determinants of Survival in Patientswith Alzheimer’s Disease.
25629079 2015 Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome.
25385316 2015 Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
More...