EIF4A2
Eukaryotic Translation Initiation Factor 4A2
Gene Information Card
| Symbol | EIF4A2 |
|---|---|
| Full Name | Eukaryotic Translation Initiation Factor 4A2 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q27.3 |
| NCBI Gene ID | 1974 ncbi.nlm.nih.gov/gene/1974 |
| Ensembl ID | ENSG00000156976 |
| UniProt ID | Q14240 |
| OMIM ID | 601102 |
| HGNC ID | 3284 |
| Aliases | DDX2B, eIF4A-II, eIF4A2 |
Description
EIF4A2 encodes a member of the DEAD-box RNA helicase family, specifically eukaryotic initiation factor 4A-II. This protein is a component of the eIF4F complex, which is essential for cap-dependent translation initiation. It unwinds secondary structures in the 5' untranslated region of mRNAs, facilitating ribosome binding. EIF4A2 is widely expressed and involved in cellular growth, proliferation, and stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of translation initiation via altered eIF4F complex activity promotes oncogenic mRNA translation. | COSMIC, ClinVar |
| Intellectual disability (candidate) | Rare missense variants may impair translation efficiency in neurons. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.1 | High |
| Brain | 15.3 | Medium |
| Heart | 12.7 | Medium |
| Liver | 10.5 | Medium |
| Lung | 9.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 35.2 | High expression |
| HeLa | 28.6 | High expression |
| K562 | 22.1 | Moderate expression |
| HepG2 | 18.4 | Moderate expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1016A>G (p.Tyr339Cys) | Missense | <0.01% | Unknown; predicted damaging |
| c.1243C>T (p.Arg415Trp) | Missense | <0.01% | Unknown; predicted damaging |
| c.145G>A (p.Gly49Arg) | Missense | <0.01% | Unknown; predicted benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data:
Gene Ontology (GO)
| • ATP-dependent RNA helicase activity | • RNA binding |
| • Translation initiation factor activity | • Cytoplasmic stress granule |
| • Eukaryotic translation initiation factor 4F complex |
Pathways
• Eukaryotic translation initiation (Reactome R-HSA-72649)
• Cap-dependent translation initiation (Reactome R-HSA-72737)
• Regulation of eIF4F activity (Reactome R-HSA-72689)
Protein Summary
EIF4A2 is a 46 kDa DEAD-box RNA helicase that catalyzes ATP-dependent unwinding of RNA secondary structures. It is a core component of the eIF4F complex, along with eIF4E and eIF4G. The protein shuttles between the nucleus and cytoplasm and localizes to stress granules under cellular stress. Its helicase activity is essential for efficient translation of mRNAs with structured 5' UTRs, including many oncogenes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EIF4A2 Knockout HEK293 Cell Line | EDJ-KQ4510 | Human | 1974 | Details Get a Quote |
| EIF4A2 Knockout A-549 Cell Line | EDJ-KQ27119 | Human | 1974 | Details Get a Quote |
| EIF4A2 Knockout HCT 116 Cell Line | EDJ-KQ27120 | Human | 1974 | Details Get a Quote |
| EIF4A2 Knockout HeLa Cell Line | EDJ-KQ25856 | Human | 1974 | Details Get a Quote |
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