Property Summary

NCBI Gene PubMed Count 51
PubMed Score 79.36
PubTator Score 62.51

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
malignant mesothelioma 1.500 2.9e-07
osteosarcoma -1.334 2.1e-05
ovarian cancer 1.100 8.5e-04

Gene RIF (25)

PMID Text
26671108 This study demonstrated that no evidence for a role of Ile587Val polymorphism of EIF2B5 gene in multiple sclerosis in Kashmir Valley if India.
25457085 Patient exhibits an early-infantile onset and progressive disease course resembling Cree leukoencephalopathy, suggesting a severe functional disruption of eIF2Bepsilon caused by R195H as well as by I408T mutations.
24980014 Missense mutations in EIF2B5 are associated with multiple sclerosis.
21503715 Also a mutation c.1913G>A[p.Arg638 His] in exon 14 of the EIF2B5-Gens as single nucleotide polymorphism.
21307862 Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bepsilon (eIF2Bepsilon) identified in Chinese patients with vanishing white matter disease
21204011 crystal structure of the guanine nucleotide exchange factor for elf2
20975056 The clinical phenotype in vanishing white matter disease is influenced by the combination of both mutations(p.Arg113His and p.Thr91Ala/p.Arg339any). Females tend to do better than males.
20975056 Observational study of gene-disease association. (HuGE Navigator)
20734064 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
18854154 Knockdown of eukaryotic translation initiation factor 2B, subunit 5 epsilon, (EIF2B5) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1
18632786 Observational study of gene-disease association. (HuGE Navigator)
18565837 Resistance exercise decreases eIF2Bepsilon phosphorylation and potentiates the feeding-induced stimulation of p70S6K1 and rpS6 in young men.
18562513 no evidence for the involvement of EIF2B5 in multiple sclerosis susceptibility in France
18294360 These data support the importance of the non-catalytic domain of the eIF2Bepsilon subunit in the eIF2B complex formation and activity.
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)
17646634 We describe progressive megalencephaly and severe brain abnormalities due to specific EIF2Bepsilon mutations in two unrelated families.
17439913 Observational study of genotype prevalence. (HuGE Navigator)
17439913 Arg113His mutation in eIF2B5 associated with adult onset of vanishing white matter leukoencephalopathy is not present in multiple sclerosis patients
15723074 mutations in EIF2b5 causes a specific reduction in the generation of GFAP+ astrocytes in vanishing white matter disease
14993275 Biochemical analyses indicate that mutations analyzed in eIF2Balpha and -epsilon reduce the steady-state level of the affected subunit, while the most severe mutant tested, eIF2Bbeta(V341D), forms complexes with reduced stability and lower eIF2B activity.
14572143 We demonstrated that mutations in the gene EIF2B5 cause "leukoencephalopathy with vanishing white matter." This gene encodes one of the five subunits of the translation factor eIF2B.
12707859 Mutation in EIF2B5 causes childhood ataxia with central nervous system hypomyelination/ vanishing white matter leukodystrophy.
12325082 Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.

AA Sequence

MAAPVVAPPGVVVSRANKRSGAGPGGSGGGGARGAEEEPPPPLQAVLVADSFDRRFFPISKDQPRVLLPL      1 - 70
ANVALIDYTLEFLTATGVQETFVFCCWKAAQIKEHLLKSKWCRPTSLNVVRIITSELYRSLGDVLRDVDA     71 - 140
KALVRSDFLLVYGDVISNINITRALEEHRLRRKLEKNVSVMTMIFKESSPSHPTRCHEDNVVVAVDSTTN    141 - 210
RVLHFQKTQGLRRFAFPLSLFQGSSDGVEVRYDLLDCHISICSPQVAQLFTDNFDYQTRDDFVRGLLVNE    211 - 280
EILGNQIHMHVTAKEYGARVSNLHMYSAVCADVIRRWVYPLTPEANFTDSTTQSCTHSRHNIYRGPEVSL    281 - 350
GHGSILEENVLLGSGTVIGSNCFITNSVIGPGCHIGDNVVLDQTYLWQGVRVAAGAQIHQSLLCDNAEVK    351 - 420
ERVTLKPRSVLTSQVVVGPNITLPEGSVISLHPPDAEEDEDDGEFSDDSGADQEKDKVKMKGYNPAEVGA    421 - 490
AGKGYLWKAAGMNMEEEEELQQNLWGLKINMEEESESESEQSMDSEEPDSRGGSPQMDDIKVFQNEVLGT    491 - 560
LQRGKEENISCDNLVLEINSLKYAYNISLKEVMQVLSHVVLEFPLQQMDSPLDSSRYCALLLPLLKAWSP    561 - 630
VFRNYIKRAADHLEALAAIEDFFLEHEALGISMAKVLMAFYQLEILAEETILSWFSQRDTTDKGQQLRKN    631 - 700
QQLQRFIQWLKEAEEESSEDD                                                     701 - 721
//

Text Mined References (67)

PMID Year Title
26671108 2015 No evidence for a role of Ile587Val polymorphism of EIF2B5 gene in multiple sclerosis in Kashmir Valley of India.
25457085 2015 A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy.
24980014 2014 Novel mutations identified in EIF2B5 gene in Kashmiri patients as susceptibility factor for multiple sclerosis.
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.
22472876 2013 A mega-analysis of genome-wide association studies for major depressive disorder.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
21503715 2011 [Vanishing white matter disease: a stress-related leukodystrophy].
21484434 2011 Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21307862 2011 Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2B? (eIF2B?) identified in Chinese patients with vanishing white matter disease.
21269460 2011 Initial characterization of the human central proteome.
21204011 2010 Crystal structure of the C-terminal domain of the ? subunit of human translation initiation factor eIF2B.
20975056 2010 Genotype-phenotype correlation in vanishing white matter disease.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19736320 2009 Translational control by RGS2.
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.
18565837 2008 Resistance exercise decreases eIF2Bepsilon phosphorylation and potentiates the feeding-induced stimulation of p70S6K1 and rpS6 in young men.
18562513 2008 No evidence for association between the EIF2B5 gene and multiple sclerosis in French families.
18294360 2008 Exon deletion in the non-catalytic domain of eIF2Bepsilon due to a splice site mutation leads to infantile forms of CACH/VWM with severe decrease of eIF2B GEF activity.
18263758 2008 Genetic and clinical heterogeneity in eIF2B-related disorder.
18088087 2008 Phosphoproteome of resting human platelets.
17646634 2007 Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families.
17439913 2007 Arg113His mutation of vanishing white matter is not present in multiple sclerosis.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
16289705 2006 An efficient mammalian cell-free translation system supplemented with translation factors.
16097034 2005 Global phosphoproteome analysis on human HepG2 hepatocytes using reversed-phase diagonal LC.
16041584 2005 Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients.
15776425 2005 Identification of ten novel mutations in patients with eIF2B-related disorders.
15723074 2005 EIF2B5 mutations compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophy.
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).
15302935 2004 Large-scale characterization of HeLa cell nuclear phosphoproteins.
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.
14993275 2004 Mutations causing childhood ataxia with central nervous system hypomyelination reduce eukaryotic initiation factor 2B complex formation and activity.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14572143 2003 Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.
14566705 2003 eIF2B-related disorders: antenatal onset and involvement of multiple organs.
12707859 2003 Ovarian failure related to eukaryotic initiation factor 2B mutations.
12499492 2002 A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12426392 2002 Exp5 exports eEF1A via tRNA from nuclei and synergizes with other transport pathways to confine translation to the cytoplasm.
12325082 2002 Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.
12133000 2002 Evidence that the dephosphorylation of Ser(535) in the epsilon-subunit of eukaryotic initiation factor (eIF) 2B is insufficient for the activation of eIF2B by insulin.
11704758 2001 Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.
11500362 2001 Eukaryotic initiation factor 2B: identification of multiple phosphorylation sites in the epsilon-subunit and their functions in vivo.
11323413 2001 Characterization of the mammalian initiation factor eIF2B complex as a GDP dissociation stimulator protein.
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.
10441579 1999 The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27.
9468292 1998 Regulation of eukaryotic initiation factor eIF2B: glycogen synthase kinase-3 phosphorylates a conserved serine which undergoes dephosphorylation in response to insulin.
9446619 1998 Identification of interprotein interactions between the subunits of eukaryotic initiation factors eIF2 and eIF2B.
8688466 1996 Cloning and characterization of cDNAs encoding the epsilon-subunit of eukaryotic initiation factor-2B from rabbit and human.
8626696 1996 T-cell activation leads to rapid stimulation of translation initiation factor eIF2B and inactivation of glycogen synthase kinase-3.
8397507 1993 Glycogen synthase kinase-3 is rapidly inactivated in response to insulin and phosphorylates eukaryotic initiation factor eIF-2B.