Identity
HGNC
LOCATION
14q24.3
LOCUSID
ALIAS
EIF-2Bbeta,EIF2B
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 8892
MIM: 606454
HGNC: 3258
Ensembl: ENSG00000119718
Variants:
dbSNP: 8892
ClinVar: 8892
TCGA: ENSG00000119718
COSMIC: EIF2B2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33334879 | 2021 | Mutational analysis of the alpha subunit of eIF2B provides insights into the role of eIF2B bodies in translational control and VWM disease. | 2 |
| 33334879 | 2021 | Mutational analysis of the alpha subunit of eIF2B provides insights into the role of eIF2B bodies in translational control and VWM disease. | 2 |
| 28041799 | 2017 | eIF2B-related multisystem disorder in two sisters with atypical presentations. | 0 |
| 29036434 | 2017 | Novel mechanisms of eIF2B action and regulation by eIF2α phosphorylation. | 33 |
| 28041799 | 2017 | eIF2B-related multisystem disorder in two sisters with atypical presentations. | 0 |
| 29036434 | 2017 | Novel mechanisms of eIF2B action and regulation by eIF2α phosphorylation. | 33 |
| 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. | 1 |
| 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. | 1 |
| 22285377 | 2012 | Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype. | 1 |
| 22285377 | 2012 | Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype. | 1 |
| 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. | 15 |
| 20734064 | 2010 | A large-scale candidate gene association study of age at menarche and age at natural menopause. | 57 |
| 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. | 15 |
| 20734064 | 2010 | A large-scale candidate gene association study of age at menarche and age at natural menopause. | 57 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
Citation
Dessen P
EIF2B2 (eukaryotic translation initiation factor 2B subunit beta)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62774/eif2b2-(eukaryotic-translation-initiation-factor-2b-subunit-beta)
