EIF2B2
Translation initiation factor eIF2B subunit beta
Also known as: EI2BB_HUMAN, EIF-2Bbeta, EIF2B, EIF2Bbeta
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P49770
- Gene
- EIF2B2
- Ensembl
- ENSG00000119718
- Chromosome
- 14
- Canonical length
- 351 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Plasma membrane,Focal adhesion sites
OverviewNCBI Gene
This gene encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B). EIF2B is involved in protein synthesis and exchanges GDP and GTP for its activation and deactivation. [provided by RefSeq, Aug 2011]
Canonical amino-acid sequenceUniProt
351 residues, UniProt reviewed canonical sequence.
>P49770|EIF2B2
1 MPGSAAKGSE LSERIESFVE TLKRGGGPRS SEEMARETLG LLRQIITDHR WSNAGELMEL
61 IRREGRRMTA AQPSETTVGN MVRRVLKIIR EEYGRLHGRS DESDQQESLH KLLTSGGLNE
121 DFSFHYAQLQ SNIIEAINEL LVELEGTMEN IAAQALEHIH SNEVIMTIGF SRTVEAFLKE
181 AARKRKFHVI VAECAPFCQG HEMAVNLSKA GIETTVMTDA AIFAVMSRVN KVIIGTKTIL
241 ANGALRAVTG THTLALAAKH HSTPLIVCAP MFKLSPQFPN EEDSFHKFVA PEEVLPFTEG
301 DILEKVSVHC PVFDYVPPEL ITLFISNIGG NAPSYIYRLM SELYHPDDHV LLocalizationUniProt · AlphaFold · HPA
Whether an antibody against EIF2B2 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)
- 0.27
- Highest tissue expression
- 11 nTPM
Expression across tissuesHPA
Tissue
- thyroid gland: 11 nTPM
- parathyroid gland: 8 nTPM
- tongue: 6.6 nTPM
- retina: 6.2 nTPM
- skeletal muscle: 5.4 nTPM
- adrenal gland: 5 nTPM
Single-cell type
- syncytiotrophoblasts: 245 nCPM
- late primary spermatocytes: 112 nCPM
- extravillous trophoblasts: 68 nCPM
- esophageal suprabasal cells: 65 nCPM
- cytotrophoblasts: 61 nCPM
- migrating cytotrophoblasts: 55 nCPM
Immune cell
- basophil: 4.2 nTPM
- T-reg: 4 nTPM
- NK-cell: 3.3 nTPM
- gdT-cell: 3 nTPM
- memory CD4 T-cell: 2.6 nTPM
- MAIT T-cell: 2.5 nTPM
Brain region
- cerebellum: 26 nTPM
- white matter: 21 nTPM
- hypothalamus: 21 nTPM
- cerebral cortex: 18 nTPM
- thalamus: 18 nTPM
- medulla oblongata: 17 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about EIF2B2.
Disease | AllUniProt
Conditions EIF2B2 is implicated in, by any mechanism.
- Leukoencephalopathy with vanishing white matter 2 (VWM2) MIM:620312
Disease | GeneticClinVar
39 pathogenic / likely-pathogenic of 345 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Vanishing white matter disease
- Leukoencephalopathy with vanishing white matter 2
- EIF2B2-related disorder
- See cases
- Abnormality of the nervous system
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)
- 1.52
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.03
- DepMap mean gene effect
- -1.56
- DepMap dependency class
- pan
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- central nervous system development
- cytoplasmic translational initiation
- myelination
- oligodendrocyte development
- ovarian follicle development
- regulation of translational initiation
- response to glucose
- response to heat
- response to peptide hormone
- T cell receptor signaling pathway
- translational initiation
Molecular functions
- ATP binding
- GTP binding
- guanyl-nucleotide exchange factor activity
- translation initiation factor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Initiation factor 2B-related
- NagB/RpiA transferase-like
- Initiation factor 2B-like, C-terminal
- Initiation factor 2 subunit family
- Eukaryotic initiation factor 2B subunit beta
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of EIF2B2 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 EIF2B2 as an antibody target. Whether an autoantibody or antibody against EIF2B2 could matter depends on whether native EIF2B2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
EIF2B2 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 EIF2B2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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