EIF2B5
Translation initiation factor eIF2B subunit epsilon
Also known as: EI2BE_HUMAN, EIF-2B, EIF2Bepsilon
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q13144
- Gene
- EIF2B5
- Ensembl
- ENSG00000145191
- Chromosome
- 3
- Canonical length
- 721 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Cytosol
OverviewNCBI Gene
This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Nov 2009]
Canonical amino-acid sequenceUniProt
721 residues, UniProt reviewed canonical sequence.
>Q13144|EIF2B5
1 MAAPVVAPPG VVVSRANKRS GAGPGGSGGG GARGAEEEPP PPLQAVLVAD SFDRRFFPIS
61 KDQPRVLLPL ANVALIDYTL EFLTATGVQE TFVFCCWKAA QIKEHLLKSK WCRPTSLNVV
121 RIITSELYRS LGDVLRDVDA KALVRSDFLL VYGDVISNIN ITRALEEHRL RRKLEKNVSV
181 MTMIFKESSP SHPTRCHEDN VVVAVDSTTN RVLHFQKTQG LRRFAFPLSL FQGSSDGVEV
241 RYDLLDCHIS ICSPQVAQLF TDNFDYQTRD DFVRGLLVNE EILGNQIHMH VTAKEYGARV
301 SNLHMYSAVC ADVIRRWVYP LTPEANFTDS TTQSCTHSRH NIYRGPEVSL GHGSILEENV
361 LLGSGTVIGS NCFITNSVIG PGCHIGDNVV LDQTYLWQGV RVAAGAQIHQ SLLCDNAEVK
421 ERVTLKPRSV LTSQVVVGPN ITLPEGSVIS LHPPDAEEDE DDGEFSDDSG ADQEKDKVKM
481 KGYNPAEVGA AGKGYLWKAA GMNMEEEEEL QQNLWGLKIN MEEESESESE QSMDSEEPDS
541 RGGSPQMDDI KVFQNEVLGT LQRGKEENIS CDNLVLEINS LKYAYNISLK EVMQVLSHVV
601 LEFPLQQMDS PLDSSRYCAL LLPLLKAWSP VFRNYIKRAA DHLEALAAIE DFFLEHEALG
661 ISMAKVLMAF YQLEILAEET ILSWFSQRDT TDKGQQLRKN QQLQRFIQWL KEAEEESSED
721 DLocalizationUniProt · AlphaFold · HPA
Whether an antibody against EIF2B5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.31
- Highest tissue expression
- 50 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 50 nTPM
- tongue: 31 nTPM
- choroid plexus: 21 nTPM
- esophagus: 21 nTPM
- parathyroid gland: 21 nTPM
- skin: 19 nTPM
Single-cell type
- epididymal principal cells: 61 nCPM
- esophageal basal cells: 60 nCPM
- esophageal suprabasal cells: 60 nCPM
- esophageal apical cells: 53 nCPM
- cytotrophoblasts: 46 nCPM
- migrating cytotrophoblasts: 43 nCPM
Immune cell
- naive CD4 T-cell: 18 nTPM
- naive B-cell: 17 nTPM
- memory B-cell: 16 nTPM
- eosinophil: 15 nTPM
- NK-cell: 14 nTPM
- memory CD8 T-cell: 13 nTPM
Brain region
- choroid plexus: 13 nTPM
- hypothalamus: 9.5 nTPM
- cerebral cortex: 8.6 nTPM
- cerebellum: 8.5 nTPM
- medulla oblongata: 8.3 nTPM
- spinal cord: 8.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about EIF2B5.
Disease | AllUniProt
Conditions EIF2B5 is implicated in, by any mechanism.
- Leukoencephalopathy with vanishing white matter 5 (VWM5) MIM:620315
Disease | GeneticClinVar
117 pathogenic / likely-pathogenic of 861 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Vanishing white matter disease
- Leukoencephalopathy with vanishing white matter 5
- Leukoencephalopathy with vanishing white matter 1
- EIF2B5-related disorder
- Inborn genetic diseases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.44
- gnomAD pLI
- 0.06
- gnomAD missense Z
- 0.78
- DepMap mean gene effect
- -1.19
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 16% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- astrocyte development
- astrocyte differentiation
- cytoplasmic translational initiation
- hippocampus development
- myelination
- oligodendrocyte development
- ovarian follicle development
- positive regulation of apoptotic process
- positive regulation of translational initiation
- response to endoplasmic reticulum stress
- response to glucose
- response to heat
- response to peptide hormone
- T cell receptor signaling pathway
- translational initiation
Molecular functions
- guanyl-nucleotide exchange factor activity
- translation initiation factor activity
- translation initiation factor binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- W2 domain
- Trimeric LpxA-like superfamily
- Armadillo-type fold
- Nucleotide-diphospho-sugar transferases
- EIF2B subunit epsilon/gamma, LbH domain
- eIF4-gamma/eIF5/eIF2-epsilon
- EIF2B subunit epsilon LbH domain
- Translation initiation factor eIF-2B subunit epsilon, N-terminal
- Translation initiation factor eIF-2B subunit epsilon, W2 domain
- eIF2B Complex Subunit Epsilon
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of EIF2B5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads EIF2B5 as an antibody target. Whether an autoantibody or antibody against EIF2B5 could matter depends on whether native EIF2B5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
EIF2B5 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label EIF2B5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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