Property Summary

NCBI Gene PubMed Count 10
Grant Count 24
R01 Count 18
Funding $4,192,531.34
PubMed Score 41.54
PubTator Score 7.10

Knowledge Summary

Patent

No data available

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

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.
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