Property Summary

NCBI Gene PubMed Count 10
PubMed Score 41.54
PubTator Score 7.10

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count P-value
tuberculosis 1563 3.28636204351682E-9
malignant mesothelioma 3163 5.81474248286156E-6
ovarian cancer 8492 3.43572611298045E-5
osteosarcoma 7933 5.22127177311489E-5
psoriasis 6685 2.32372574115786E-4

Expression

  Differential Expression (5)

Disease log2 FC p
malignant mesothelioma -1.100 0.000
psoriasis 1.100 0.000
osteosarcoma 1.514 0.000
tuberculosis 1.700 0.000
ovarian cancer 1.500 0.000

Synonym

Accession Q9HA77 Q8NI84 Q96IV4
Symbols cysRS
COXPD27

Gene

  Ortholog (12)

Gene RIF (4)

PMID Text
25787132 Mutations in CARS2 result in a mitochondrial translational defect as seen in individuals with mitochondrial epileptic encephalopathy.
25361775 CARS2 is a novel disease gene associated with a severe progressive myoclonic epilepsy most resembling MERRF syndrome
20877624 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

AA Sequence

MLRTTRGPGLGPPLLQAALGLGRAGWHWPAGRAASGGRGRAWLQPTGRETGVQVYNSLTGRKEPLIVAHA      1 - 70
EAASWYSCGPTVYDHAHLGHACSYVRFDIIRRILTKVFGCSIVMVMGITDVDDKIIKRANEMNISPASLA     71 - 140
SLYEEDFKQDMAALKVLPPTVYLRVTENIPQIISFIEGIIARGNAYSTAKGNVYFDLKSRGDKYGKLVGV    141 - 210
VPGPVGEPADSDKRHASDFALWKAAKPQEVFWASPWGPGRPGWHIECSAIASMVFGSQLDIHSGGIDLAF    211 - 280
PHHENEIAQCEVFHQCEQWGNYFLHSGHLHAKGKEEKMSKSLKNYITIKDFLKTFSPDVFRFFCLRSSYR    281 - 350
SAIDYSDSAMLQAQQLLLGLGSFLEDARAYMKGQLACGSVREAMLWERLSSTKRAVKAALADDFDTPRVV    351 - 420
DAILGLAHHGNGQLRASLKEPEGPRSPAVFGAIISYFEQFFETVGISLANQQYVSGDGSEATLHGVVDEL    421 - 490
VRFRQKVRQFALAMPEATGDARRQQLLERQPLLEACDTLRRGLTAHGINIKDRSSTTSTWELLDQRTKDQ    491 - 560
KSAG                                                                      561 - 564
//

Text Mined References (12)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25787132 2015 Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
25361775 2014 A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy.
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.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
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).
15057823 2004 The DNA sequence and analysis of human chromosome 13.
More...