Property Summary

NCBI Gene PubMed Count 13
PubMed Score 5.88
PubTator Score 2.94

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma -1.731 0.000

Synonym

Accession Q5JTZ9 A2RRN5 Q8N198 Q96D02 Q9ULF0
Symbols AARSL
LKENP
COXPD8
MTALARS
MT-ALARS

Gene

Gene RIF (3)

PMID Text
24808023 A new phenotype caused by AARS2 mutations is characterized by leukoencephalopathy and ovarian failure in female patients, indicating that the phenotypic spectrum associated with AARS2 variants is much wider than previously reported.
22277967 Mutations in AARS2 found in lethal mitochondrial myopathy
20877624 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MAASVAAAARRLRRAIRRSPAWRGLSHRPLSSEPPAAKASAVRAAFLNFFRDRHGHRLVPSASVRPRGDP      1 - 70
SLLFVNAGMNQFKPIFLGTVDPRSEMAGFRRVANSQKCVRAGGHHNDLEDVGRDLSHHTFFEMLGNWAFG     71 - 140
GEYFKEEACNMAWELLTQVYGIPEERLWISYFDGDPKAGLDPDLETRDIWLSLGVPASRVLSFGPQENFW    141 - 210
EMGDTGPCGPCTEIHYDLAGGVGAPQLVELWNLVFMQHNREADGSLQPLPQRHVDTGMGLERLVAVLQGK    211 - 280
HSTYDTDLFSPLLNAIQQGCRAPPYLGRVGVADEGRTDTAYRVVADHIRTLSVCISDGIFPGMSGPPLVL    281 - 350
RRILRRAVRFSMEILKAPPGFLGSLVPVVVETLGDAYPELQRNSAQIANLVSEDEAAFLASLERGRRIID    351 - 420
RTLRTLGPSDMFPAEVAWSLSLCGDLGLPLDMVELMLEEKGVQLDSAGLERLAQEEAQHRARQAEPVQKQ    421 - 490
GLWLDVHALGELQRQGVPPTDDSPKYNYSLRPSGSYEFGTCEAQVLQLYTEDGTAVASVGKGQRCGLLLD    491 - 560
RTNFYAEQGGQASDRGYLVRAGQEDVLFPVARAQVCGGFILHEAVAPECLRLGDQVQLHVDEAWRLGCMA    561 - 630
KHTATHLLNWALRQTLGPGTEQQGSHLNPEQLRLDVTTQTPLTPEQLRAVENTVQEAVGQDEAVYMEEVP    631 - 700
LALTAQVPGLRSLDEVYPDPVRVVSVGVPVAHALDPASQAALQTSVELCCGTHLLRTGAVGDLVIIGDRQ    701 - 770
LSKGTTRLLAVTGEQAQQARELGQSLAQEVKAATERLSLGSRDVAEALRLSKDIGRLIEAVETAVMPQWQ    771 - 840
RRELLATVKMLQRRANTAIRKLQMGQAAKKTQELLERHSKGPLIVDTVSAESLSVLVKVVRQLCEQAPST    841 - 910
SVLLLSPQPMGKVLCACQVAQGAMPTFTAEAWALAVCSHMGGKAWGSRVVAQGTGSTTDLEAALSIAQTY    911 - 980
ALSQL                                                                     981 - 985
//

Text Mined References (16)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24808023 2014 Novel (ovario) leukodystrophy related to AARS2 mutations.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
22277967 2012 Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
21549344 2011 Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
15779907 2005 Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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