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.

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 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
Displaying Records 1 To 4 Of 4 Records
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