Property Summary

NCBI Gene PubMed Count 51
Grant Count 12
R01 Count 10
Funding $702,164.51
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 0.000
osteosarcoma -1.334 0.000
ovarian cancer 1.100 0.001

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)
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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.
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