Property Summary

NCBI Gene PubMed Count 44
PubMed Score 10.82
PubTator Score 95.81

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma -1.427 9.4e-07
lung cancer 1.500 3.3e-04
ovarian cancer 1.500 2.0e-06

 MGI Phenotype (1)

Gene RIF (19)

PMID Text
25779044 demonstrate that DAP5 associates with eIF2beta and eIF4AI to stimulate IRES-dependent translation of cellular mRNAs
25600065 A novel missense mutation within EIF2B4 is associated with vanishing white matter disease.
22737209 analysis of developmental splicing deregulation in leukodystrophies related to EIF2B mutations
21560189 The functional effects of selected vanishing white matter disease mutations in EIF2B2-5 by coexpressing mutated and wild-type subunits in human cells.
21503715 A mutation .626G>A [p.Arg209Gln] in exon 7 and c.1399C>T [p.Arg467Trp] in exon 13 of the EIF2B4-Gens.
20734064 Observational study of gene-disease association. (HuGE Navigator)
20709751 Data demonstrate that cellular response resulting from eIF2alpha phosphorylation is attenuated in several cancer cell lines, and correlates with the expression of a specific isoform of a regulatory eIF2B subunit, eIF2Bdelta variant 1 (V1).
20532202 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20016818 These results validate the measurement of eIF2B GEF activity in patients' transformed-lymphocytes as an important tool for the diagnosis of eIF2B-related disorders.
19460752 Knockdown of eukaryotic translation initiation factor 2B, subunit 4 delta (EIF2B4, 67kDa) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells
19158808 A unique EIF2B mutation spectrum in Chinese Vanishing white matter patients was shown.
18632786 Observational study of gene-disease association. (HuGE Navigator)
18539998 We describe the first Chinese patient with typical clinical and radiological features genetically confirmed to have vanishing white matter disease for a mutation in EIF2B4.
18330844 The authors suspected VWM and sequenced the genes EIF2B1-5, which revealed one heterozygous mutation in EIF2B4.
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)
18160716 A novel mechanism for the control of translation initiation by amino acids, mediated by phosphorylation of EIF-2B, is reported.
18061208 This study describe here a case suggestive of ovarioleukodistrophy carrying no eIF2B mutations.
18005052 We report for the first time that in vitro fertilization and embryo transfer can lead to a successful procreation in patients with OLD related to EIF2B mutations.
12707859 Mutation in EIF2B4 causes childhood ataxia with central nervous system hypomyelination/ vanishing white matter leukodystrophy.

AA Sequence

MAAVAVAVREDSGSGMKAELPPGPGAVGREMTKEEKLQLRKEKKQQKKKRKEEKGAEPETGSAVSAAQCQ      1 - 70
VGPTRELPESGIQLGTPREKVPAGRSKAELRAERRAKQEAERALKQARKGEQGGPPPKASPSTAGETPSG     71 - 140
VKRLPEYPQVDDLLLRRLVKKPERQQVPTRKDYGSKVSLFSHLPQYSRQNSLTQFMSIPSSVIHPAMVRL    141 - 210
GLQYSQGLVSGSNARCIALLRALQQVIQDYTTPPNEELSRDLVNKLKPYMSFLTQCRPLSASMHNAIKFL    211 - 280
NKEITSVGSSKREEEAKSELRAAIDRYVQEKIVLAAQAISRFAYQKISNGDVILVYGCSSLVSRILQEAW    281 - 350
TEGRRFRVVVVDSRPWLEGRHTLRSLVHAGVPASYLLIPAASYVLPEVSKVLLGAHALLANGSVMSRVGT    351 - 420
AQLALVARAHNVPVLVCCETYKFCERVQTDAFVSNELDDPDDLQCKRGEHVALANWQNHASLRLLNLVYD    421 - 490
VTPPELVDLVITELGMIPCSSVPVVLRVKSSDQ                                         491 - 523
//

Text Mined References (53)

PMID Year Title
26043506 2015 A rare mutation in EIF2B4 gene in an epileptic child with vanishing white matter disease: a case report.
25875391 2015 Pharmacological dimerization and activation of the exchange factor eIF2B antagonizes the integrated stress response.
25779044 2015 DAP5 associates with eIF2? and eIF4AI to promote Internal Ribosome Entry Site driven translation.
25600065 2015 Adult-onset vanishing white matter disease with novel missense mutations in a subunit of translational regulator, EIF2B4.
25416956 2014 A proteome-scale map of the human interactome network.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23382691 2013 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
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.
22737209 2012 Developmental splicing deregulation in leukodystrophies related to EIF2B mutations.
21560189 2011 Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes.
21503715 2011 [Vanishing white matter disease: a stress-related leukodystrophy].
21269460 2011 Initial characterization of the human central proteome.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
20709751 2010 Regulation of the unfolded protein response by eif2Bdelta isoforms.
20532202 2010 Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20016818 2009 Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19158808 2009 Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18632786 2008 No evidence that polymorphisms of the vanishing white matter disease genes are risk factors in multiple sclerosis.
18539998 2008 Vanishing white matter disease: the first reported chinese patient.
18330844 2007 Conversion of a normal MRI into an MRI showing a cystic leukoencephalopathy is not a known feature of vanishing white matter.
18263758 2008 Genetic and clinical heterogeneity in eIF2B-related disorder.
18160716 2008 A novel mechanism for the control of translation initiation by amino acids, mediated by phosphorylation of eukaryotic initiation factor 2B.
18061208 2008 A case of ovarioleukodystrophy without eIF2B mutations.
18005052 2008 Acute neurological deterioration in ovarioleukodystrophy related to EIF2B mutations: pregnancy with oocyte donation is a potentially precipitating factor.
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.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15776425 2005 Identification of ten novel mutations in patients with eIF2B-related disorders.
15507143 2004 Screening for known mutations in EIF2B genes in a large panel of patients with premature ovarian failure.
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.
14566705 2003 eIF2B-related disorders: antenatal onset and involvement of multiple organs.
12707859 2003 Ovarian failure related to eukaryotic initiation factor 2B mutations.
12556349 2003 Reduced amino acid availability inhibits muscle protein synthesis and decreases activity of initiation factor eIF2B.
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.
10931946 2000 Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning.
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.
9446619 1998 Identification of interprotein interactions between the subunits of eukaryotic initiation factors eIF2 and eIF2B.
8929216 1996 eIF2B, the guanine nucleotide-exchange factor for eukaryotic initiation factor 2. Sequence conservation between the alpha, beta and delta subunits of eIF2B from mammals and yeast.
8887689 1996 Identification of a regulatory subcomplex in the guanine nucleotide exchange factor eIF2B that mediates inhibition by phosphorylated eIF2.
8626696 1996 T-cell activation leads to rapid stimulation of translation initiation factor eIF2B and inactivation of glycogen synthase kinase-3.
7982969 1994 The delta-subunit of murine guanine nucleotide exchange factor eIF-2B. Characterization of cDNAs predicts isoforms differing at the amino-terminal end.