EIF2B2 (eukaryotic translation initiation factor 2B subunit beta)

2014-11-01  

Identity

HGNC
EIF2B2
LOCATION
14q24.3
LOCUSID
8892
ALIAS
EIF-2Bbeta,EIF2B
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8892
MIM: 606454
HGNC: 3258
Ensembl: ENSG00000119718

Variants:

dbSNP: 8892
ClinVar: 8892
TCGA: ENSG00000119718
COSMIC: EIF2B2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119718ENST00000266126P49770
ENSG00000119718ENST00000266126Q53XC2
ENSG00000119718ENST00000553401H0YJJ8
ENSG00000119718ENST00000554748H0YK01
ENSG00000119718ENST00000556028G3V5E5

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
RNA transportKEGGko03013
RNA transportKEGGhsa03013
Metabolism of proteinsREACTOMER-HSA-392499
TranslationREACTOMER-HSA-72766
Eukaryotic Translation InitiationREACTOMER-HSA-72613
Cap-dependent Translation InitiationREACTOMER-HSA-72737
Recycling of eIF2:GDPREACTOMER-HSA-72731
Gene ExpressionREACTOMER-HSA-74160

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
149932752004Mutations causing childhood ataxia with central nervous system hypomyelination reduce eukaryotic initiation factor 2B complex formation and activity.44
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
127078592003Ovarian failure related to eukaryotic initiation factor 2B mutations.34
162254572006The N-terminal domain of the human eIF2beta subunit and the CK2 phosphorylation sites are required for its function.14
182637582008Genetic and clinical heterogeneity in eIF2B-related disorder.13
290364342017Novel mechanisms of eIF2B action and regulation by eIF2α phosphorylation.13
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
178788052007[CACH/VWM syndrome and leucodystrophies related to EIF2B mutations].3
227295082013Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course.1

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