Property Summary

NCBI Gene PubMed Count 23
PubMed Score 41.08
PubTator Score 68.13

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
malignant mesothelioma 1.100 2.3e-06
medulloblastoma, large-cell 1.400 1.6e-04
non-small cell lung cancer 1.254 5.7e-17
lung cancer 2.100 1.2e-02
ovarian cancer 1.200 6.1e-09

Gene RIF (16)

PMID Text
26620921 Mutations with mild effects on solubility occur in patients as allelic combinations whereas those with strong effects on solubility or on aminoacylation are necessarily associated with a partially functional allele.
25527264 This study identified DARS2-associated leukoencephalopathy with hypomyelination with brainstem and spinal cord involvement and leg spasticity.
24566671 60 different DARS2 mutations were identified in 78 patients with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation, 13 of which have not been reported before
23652419 Cognitive impairment seems to be common among patients with leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate and DARS2 mutations
23275545 A comparison of biophysical properties of human mitochondrial aspartyl-tRNA synthetase, HsaDRS2, with them to those of a bacterial (E. coli) homolog, EcoDRS.
23216004 Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse way
22023289 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA.
21815884 A novel homozygous mutation of DARS2 may cause a severe LBSL (Leukoencephalopathy with brain stem and spinal cord involvement with lactate elevation) variant.
21792730 We describe two new cases of Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate with a novel pathogenic mutation in the DARS2 gene
21749991 Case demonstrates that DARS2 mutation homozygosity is not lethal, as suggested earlier, but compatible with a rather benign disease course.
20878420 This report describes two novel heterozygote composite mutations in the DARS2 gene
20877624 Observational study of gene-disease association. (HuGE Navigator)
19592391 DARS2 mutations cause childhood-to-adolescence onset leucoencephalopathy, but they do not seem to be associated with multiple sclerosis.
19209188 Meta-analysis of gene-disease association. (HuGE Navigator)
17384640 Mutations in DARS2, which encodes mitochondrial aspartyl-tRNA synthetase, in affected individuals with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
15779907 The gene for mitochondrial aspartyl-tRNA synthetase is described and the initial characterization of the enzyme is reported. Genes for the remaining missing human synthetases have also been found with the exception of glutaminyl-tRNA synthetase.

AA Sequence

MYFPSWLSQLYRGLSRPIRRTTQPIWGSLYRSLLQSSQRRIPEFSSFVVRTNTCGELRSSHLGQEVTLCG      1 - 70
WIQYRRQNTFLVLRDFDGLVQVIIPQDESAASVKKILCEAPVESVVQVSGTVISRPAGQENPKMPTGEIE     71 - 140
IKVKTAELLNACKKLPFEIKNFVKKTEALRLQYRYLDLRSFQMQYNLRLRSQMVMKMREYLCNLHGFVDI    141 - 210
ETPTLFKRTPGGAKEFLVPSREPGKFYSLPQSPQQFKQLLMVGGLDRYFQVARCYRDEGSRPDRQPEFTQ    211 - 280
IDIEMSFVDQTGIQSLIEGLLQYSWPNDKDPVVVPFPTMTFAEVLATYGTDKPDTRFGMKIIDISDVFRN    281 - 350
TEIGFLQDALSKPHGTVKAICIPEGAKYLKRKDIESIRNFAADHFNQEILPVFLNANRNWNSPVANFIME    351 - 420
SQRLELIRLMETQEEDVVLLTAGEHNKACSLLGKLRLECADLLETRGVVLRDPTLFSFLWVVDFPLFLPK    421 - 490
EENPRELESAHHPFTAPHPSDIHLLYTEPKKARSQHYDLVLNGNEIGGGSIRIHNAELQRYILATLLKED    491 - 560
VKMLSHLLQALDYGAPPHGGIALGLDRLICLVTGSPSIRDVIAFPKSFRGHDLMSNTPDSVPPEELKPYH    561 - 630
IRVSKPTDSKAERAH                                                           631 - 645
//

Text Mined References (26)

PMID Year Title
26620921 2015 Neurodegenerative disease-associated mutants of a human mitochondrial aminoacyl-tRNA synthetase present individual molecular signatures.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25527264 2015 DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder.
24566671 2014 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23652419 2013 Impaired information-processing speed and working memory in leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) and DARS2 mutations: a report of three adult patients.
23275545 2013 Thermodynamic properties distinguish human mitochondrial aspartyl-tRNA synthetase from bacterial homolog with same 3D architecture.
23216004 2013 Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22023289 2012 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA.
21815884 2011 A novel homozygous mutation of DARS2 may cause a severe LBSL variant.
21792730 2012 Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene.
21749991 2011 Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation.
21269460 2011 Initial characterization of the human central proteome.
20878420 2011 Clinically asymptomatic adult patient with extensive LBSL MRI pattern and DARS2 mutations.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19592391 2010 DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis.
19209188 2009 Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17384640 2007 Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
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).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.