Property Summary

NCBI Gene PubMed Count 32
PubMed Score 13.03
PubTator Score 12.82

Knowledge Summary

Patent

No data available

Expression

Gene RIF (4)

PMID Text
25761052 Results show significant higher incidence of Chinese patients with EIF2B3 mutations compared with Caucasian patients. The c.1037T>C in EIF2B3 was confirmed to be a founder mutation in Chinese explaining the genotypic differences between ethnicities.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
18632786 Observational study of gene-disease association. (HuGE Navigator)
18263758 Study reports 9 novel mutations in EIF2B genes in 8 patients, increasing number of known mutations to more than 120. Using homology modeling, analyzed the impact of novel mutations on the 5 subunits of eIF2B protein (alpha, beta, gamma, delta, epsilon)

AA Sequence

MEFQAVVMAVGGGSRMTDLTSSIPKPLLPVGNKPLIWYPLNLLERVGFEEVIVVTTRDVQKALCAEFKMK      1 - 70
MKPDIVCIPDDADMGTADSLRYIYPKLKTDVLVLSCDLITDVALHEVVDLFRAYDASLAMLMRKGQDSIE     71 - 140
PVPGQKGKKKAVEQRDFIGVDSTGKRLLFMANEADLDEELVIKGSILQKHPRIRFHTGLVDAHLYCLKKY    141 - 210
IVDFLMENGSITSIRSELIPYLVRKQFSSASSQQGQEEKEEDLKKKELKSLDIYSFIKEANTLNLAPYDA    211 - 280
CWNACRGDRWEDLSRSQVRCYVHIMKEGLCSRVSTLGLYMEANRQVPKLLSALCPEEPPVHSSAQIVSKH    281 - 350
LVGVDSLIGPETQIGEKSSIKRSVIGSSCLIKDRVTITNCLLMNSVTVEEGSNIQGSVICNNAVIEKGAD    351 - 420
IKDCLIGSGQRIEAKAKRVNEVIVGNDQLMEI                                          421 - 452
//

Text Mined References (37)

PMID Year Title
25761052 2015 Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22312164 2012 Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
21484434 2011 Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.
21269460 2011 Initial characterization of the human central proteome.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19158808 2009 Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.
18632786 2008 No evidence that polymorphisms of the vanishing white matter disease genes are risk factors in multiple sclerosis.
18263758 2008 Genetic and clinical heterogeneity in eIF2B-related disorder.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16381901 2006 The LIFEdb database in 2006.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16289705 2006 An efficient mammalian cell-free translation system supplemented with translation factors.
16288713 2005 Interaction of recombinant human eIF2 subunits with eIF2B and eIF2alpha kinases.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15217090 2004 The life and death of oligodendrocytes in vanishing white matter disease.
15060152 2004 Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways.
15054402 2004 Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12707859 2003 Ovarian failure related to eukaryotic initiation factor 2B mutations.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11835386 2002 Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.
11323413 2001 Characterization of the mammalian initiation factor eIF2B complex as a GDP dissociation stimulator protein.
11230166 2001 Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
11076863 2000 DNA cloning using in vitro site-specific recombination.
10900014 2000 Identification of eIF2Bgamma and eIF2gamma as cofactors of hepatitis C virus internal ribosome entry site-mediated translation using a functional genomics approach.
10858531 2000 Identification of domains within the epsilon-subunit of the translation initiation factor eIF2B that are necessary for guanine nucleotide exchange activity and eIF2B holoprotein formation.
10805739 2000 Identification of domains and residues within the epsilon subunit of eukaryotic translation initiation factor 2B (eIF2Bepsilon) required for guanine nucleotide exchange reveals a novel activation function promoted by eIF2B complex formation.
10737800 2000 Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.
8889549 1996 Generation and analysis of 280,000 human expressed sequence tags.
8626696 1996 T-cell activation leads to rapid stimulation of translation initiation factor eIF2B and inactivation of glycogen synthase kinase-3.