Property Summary

NCBI Gene PubMed Count 37
Grant Count 3
R01 Count 3
Funding $274,741
PubMed Score 34.16
PubTator Score 19.17

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P49770 O43201
Symbols EIF2B
EIF-2Bbeta

Gene

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.
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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.
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