EIF4E2 (Eukaryotic Translation Initiation Factor 4E Family Member 2)
A cap-binding protein involved in translation initiation, with roles in development, stress response, and cancer.
Gene Information Card
| Symbol | EIF4E2 |
|---|---|
| Full Name | Eukaryotic Translation Initiation Factor 4E Family Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q37.1 |
| NCBI Gene ID | 9470 ncbi.nlm.nih.gov/gene/9470 |
| Ensembl ID | ENSG00000184640 |
| UniProt ID | P60673 |
| OMIM ID | 603896 |
| HGNC ID | 3304 |
| Aliases | 4EHP, EIF4EL3, IF4E2 |
Description
EIF4E2 encodes the eukaryotic translation initiation factor 4E family member 2 (eIF4E2), also known as 4EHP. This protein is a cap-binding protein that shares structural similarity with eIF4E but functions as a translational repressor. It binds to the 5' cap of mRNAs and competes with eIF4E for cap binding, thereby inhibiting translation initiation. EIF4E2 is involved in various cellular processes including development, stress response, and regulation of specific mRNAs. Its expression is ubiquitous but varies across tissues. Dysregulation of EIF4E2 has been implicated in several cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression of EIF4E2 can affect translation of oncogenic or tumor suppressor mRNAs, contributing to tumor progression. | Multiple studies show differential expression in tumors; COSMIC lists somatic mutations in various cancers. |
| Developmental disorders | EIF4E2 is essential for normal development; mutations may lead to neurodevelopmental phenotypes. | Animal models show defects; human variants are rare but reported in ClinVar. |
| Intellectual disability | Potential link via regulation of synaptic mRNAs. | Case reports and functional studies suggest involvement. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Testis | 8.5 | Low |
| Kidney | 7.2 | Low |
| Liver | 5.1 | Low |
| Heart | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| A549 | 10.1 | Moderate |
| MCF7 | 8.3 | Moderate |
| K562 | 6.4 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.Ile41Met) | Missense | 0.01% (gnomAD) | Unknown; predicted benign |
| c.456C>T (p.Ser152Leu) | Missense | 0.005% (gnomAD) | Unknown; possibly damaging |
| c.789delC (p.Arg264ValfsTer23) | Frameshift | Rare | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in EIF4E2 are rare and may lead to haploinsufficiency, affecting translation regulation. In model organisms, loss of EIF4E2 causes developmental defects.
Gain of Function (GOF)
Gain-of-function mutations are not well characterized; overexpression of EIF4E2 in some cancers may promote tumor growth by altering translation of specific mRNAs.
Dominant Negative (DN)
Dominant-negative effects are possible if mutant EIF4E2 binds cap but fails to recruit repressors, thereby interfering with normal function.
View complete mutation data：
Gene Ontology (GO)
| • mRNA 5'-cap binding | • translation initiation factor activity |
| • regulation of translation | • cytoplasm |
| • P-body | • stress granule |
Pathways
• Translation initiation
• mRNA surveillance
• Stress response
Protein Summary
The eIF4E2 protein is a 245-amino acid cap-binding protein with a conserved core structure similar to eIF4E. It binds the 5' cap of mRNAs with high affinity but lacks the ability to interact with eIF4G, making it a competitive inhibitor of translation. eIF4E2 is involved in repressing translation of specific mRNAs during development, stress, and cell cycle regulation. It localizes to P-bodies and stress granules, where it mediates mRNA silencing. Post-translational modifications, such as phosphorylation, regulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EIF4E2 Knockout HEK293 Cell Line | EDJ-KQ792 | Human | 9470 | Details Get a Quote |
| EIF4E2 Knockout A-549 Cell Line | EDJ-KQ19505 | Human | 9470 | Details Get a Quote |
| EIF4E2 Knockout HCT 116 Cell Line | EDJ-KQ19506 | Human | 9470 | Details Get a Quote |
| EIF4E2 Knockout HeLa Cell Line | EDJ-KQ19507 | Human | 9470 | Details Get a Quote |
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