Property Summary

NCBI Gene PubMed Count 13
PubMed Score 236.80
PubTator Score 36.94

Knowledge Summary

Patent

No data available

Expression

Gene RIF (4)

PMID Text
22492562 This study presented that a new neurological disease, early-onset leukoencephalopathy with thalamus and brainstem involvement and high lactate, defined by a peculiar biphasic clinical course and caused by mutations in a single gene, EARS2.
22277967 Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients
20877624 Observational study of gene-disease association. (HuGE Navigator)
19805282 Studies showed in vitro Gln-tRNA(Gln) formation catalyzed by the recombinant mtGluRS and hGatCAB.

AA Sequence

MAALLRRLLQRERPSAASGRPVGRREANLGTDAGVAVRVRFAPSPTGFLHLGGLRTALYNYIFAKKYQGS      1 - 70
FILRLEDTDQTRVVPGAAENIEDMLEWAGIPPDESPRRGGPAGPYQQSQRLELYAQATEALLKTGAAYPC     71 - 140
FCSPQRLELLKKEALRNHQTPRYDNRCRNMSQEQVAQKLAKDPKPAIRFRLEQVVPAFQDLVYGWNRHEV    141 - 210
ASVEGDPVIMKSDGFPTYHLACVVDDHHMGISHVLRGSEWLVSTAKHLLLYQALGWQPPHFAHLPLLLNR    211 - 280
DGSKLSKRQGDVFLEHFAADGFLPDSLLDIITNCGSGFAENQMGRTLPELITQFNLTQVTCHSALLDLEK    281 - 350
LPEFNRLHLQRLVSNESQRRQLVGKLQVLVEEAFGCQLQNRDVLNPVYVERILLLRQGHICRLQDLVSPV    351 - 420
YSYLWTRPAVGRAQLDAISEKVDVIAKRVLGLLERSSMSLTQDMLNGELKKLSEGLEGTKYSNVMKLLRM    421 - 490
ALSGQQQGPPVAEMMLALGPKEVRERIQKVVSS                                         491 - 523
//

Text Mined References (19)

PMID Year Title
26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23008233 2013 Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation.
22492562 2012 Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
22277967 2012 Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
19805282 2009 Biogenesis of glutaminyl-mt tRNAGln in human mitochondria.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
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).
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.
11853319 2001 Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins.
10493829 1999 Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.