EIF4B
Eukaryotic Translation Initiation Factor 4B
Gene Information Card
| Symbol | EIF4B |
|---|---|
| Full Name | Eukaryotic Translation Initiation Factor 4B |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 1975 ncbi.nlm.nih.gov/gene/1975 |
| Ensembl ID | ENSG00000123473 |
| UniProt ID | P23588 |
| OMIM ID | 603928 |
| HGNC ID | 3290 |
| Aliases | EIF-4B, PRO1843 |
Description
EIF4B (Eukaryotic Translation Initiation Factor 4B) encodes a protein that stimulates the helicase activity of eIF4A and facilitates the binding of mRNA to the 43S ribosomal preinitiation complex. It plays a critical role in cap-dependent translation initiation and is involved in cell growth, proliferation, and survival. EIF4B is phosphorylated by several kinases, including S6K and RSK, linking it to mTOR signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Overexpression and hyperphosphorylation of EIF4B enhance translation of oncogenic mRNAs, promoting tumorigenesis | PMID: 23541922 |
| Intellectual disability | De novo missense variants in EIF4B have been reported in individuals with neurodevelopmental delay | ClinVar: RCV001851583 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Lymph node | 18.2 | Medium |
| Brain | 15.1 | Medium |
| Liver | 10.3 | Medium |
| Heart | 8.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.4 | High expression |
| HeLa | 19.8 | High expression |
| K562 | 15.6 | Medium expression |
| HepG2 | 12.1 | Medium expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1490C>T (p.Pro497Leu) | Missense | <0.01% | Unknown functional effect; reported in ClinVar |
| c.1123G>A (p.Gly375Arg) | Missense | <0.01% | Associated with neurodevelopmental disorder |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in EIF4B are rare; complete loss is likely incompatible with cell viability due to essential role in translation.
Gain of Function (GOF)
Gain-of-function through overexpression or constitutive phosphorylation promotes oncogenic translation and is observed in several cancers.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for EIF4B.
View complete mutation data:
Gene Ontology (GO)
Pathways
• mTOR signaling pathway (KEGG: hsa04150)
• Cap-dependent translation initiation (Reactome: R-HSA-72737)
• Signaling by SCF-KIT (Reactome: R-HSA-1433557)
Protein Summary
EIF4B is a 611-amino acid RNA-binding protein that contains an N-terminal RNA recognition motif (RRM) and a C-terminal domain rich in arginine and glycine residues. It enhances the ATP-dependent helicase activity of eIF4A, promoting unwinding of secondary structures in the 5' untranslated region of mRNAs. EIF4B is regulated by phosphorylation at multiple serine residues (e.g., Ser406, Ser422) via the PI3K/Akt/mTOR pathway. Its activity is critical for translation of mRNAs with highly structured 5' UTRs, many of which encode oncoproteins and growth factors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EIF4B Knockout HEK293 Cell Line | EDJ-KQ790 | Human | 1975 | Details Get a Quote |
| EIF4B Knockout A-549 Cell Line | EDJ-KQ19502 | Human | 1975 | Details Get a Quote |
| EIF4B Knockout HCT 116 Cell Line | EDJ-KQ19503 | Human | 1975 | Details Get a Quote |
| EIF4B Knockout HeLa Cell Line | EDJ-KQ19504 | Human | 1975 | Details Get a Quote |
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