Property Summary

NCBI Gene PubMed Count 37
PubMed Score 34.16
PubTator Score 19.17

Knowledge Summary

Patent

No data available

Expression

Gene RIF (11)

PMID Text
22729508 An Italian patient is described with a c.638A>G mutation in exon 5 of EIF2B2 gene with very slow progressive vanishing white matter disease.
22285377 analysis of vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype [case report]
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)
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 >120. Using homology modeling, analyzed the impact of novel mutations on the 5 subunits of eIF2B protein (alpha, beta, gamma, delta, epsilon).
17878805 CACH syndrome is linked to mutations in the five EIF2B--REVIEW
16225457 The role of the residues Ser2 and Ser67 contribute to the important role of the N-terminal region of eIF2beta for its function in mammals.
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.
12707859 Mutation in EIF2B2 causes childhood ataxia with central nervous system hypomyelination/ vanishing white matter leukodystrophy.

AA Sequence

MPGSAAKGSELSERIESFVETLKRGGGPRSSEEMARETLGLLRQIITDHRWSNAGELMELIRREGRRMTA      1 - 70
AQPSETTVGNMVRRVLKIIREEYGRLHGRSDESDQQESLHKLLTSGGLNEDFSFHYAQLQSNIIEAINEL     71 - 140
LVELEGTMENIAAQALEHIHSNEVIMTIGFSRTVEAFLKEAARKRKFHVIVAECAPFCQGHEMAVNLSKA    141 - 210
GIETTVMTDAAIFAVMSRVNKVIIGTKTILANGALRAVTGTHTLALAAKHHSTPLIVCAPMFKLSPQFPN    211 - 280
EEDSFHKFVAPEEVLPFTEGDILEKVSVHCPVFDYVPPELITLFISNIGGNAPSYIYRLMSELYHPDDHV    281 - 350
L//

Text Mined References (38)

PMID Year Title
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22729508 2013 Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course.
22285377 2012 Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype.
21516116 2011 Next-generation sequencing to generate interactome datasets.
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.
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.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
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.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17878805 2007 [CACH/VWM syndrome and leucodystrophies related to EIF2B mutations].
16289705 2006 An efficient mammalian cell-free translation system supplemented with translation factors.
16225457 2006 The N-terminal domain of the human eIF2beta subunit and the CK2 phosphorylation sites are required for its function.
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.
14993275 2004 Mutations causing childhood ataxia with central nervous system hypomyelination reduce eukaryotic initiation factor 2B complex formation and activity.
14566705 2003 eIF2B-related disorders: antenatal onset and involvement of multiple organs.
12707859 2003 Ovarian failure related to eukaryotic initiation factor 2B mutations.
12508121 2003 The DNA sequence and analysis of human chromosome 14.
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.
11959995 2002 Modulation of protein translation by Nck-1.
11704758 2001 Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.
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.
9446619 1998 Identification of interprotein interactions between the subunits of eukaryotic initiation factors eIF2 and eIF2B.
9110174 1997 Large-scale concatenation cDNA sequencing.
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.
8619474 1996 A "double adaptor" method for improved shotgun library construction.
7596406 1995 Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.