EEF1A2 Gene
Eukaryotic Translation Elongation Factor 1 Alpha 2
Gene Information Card
| Symbol | EEF1A2 |
|---|---|
| Full Name | Eukaryotic Translation Elongation Factor 1 Alpha 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q13.33 |
| NCBI Gene ID | 1917 ncbi.nlm.nih.gov/gene/1917 |
| Ensembl ID | ENSG00000101210 |
| UniProt ID | Q05639 |
| OMIM ID | 602959 |
| HGNC ID | 3192 |
| Aliases | EF1A, EEF1AL, STN, eEF1A-2, EF-1-alpha-2 |
Description
The EEF1A2 gene encodes the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl-tRNAs to the ribosome during protein synthesis. Unlike the ubiquitously expressed EEF1A1, EEF1A2 is predominantly expressed in neurons, muscle, and heart. Mutations in EEF1A2 are associated with neurodevelopmental disorders including epileptic encephalopathy, intellectual disability, and autism spectrum disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epileptic encephalopathy, early infantile, 33 | Missense mutations impair GTP binding or tRNA binding, reducing translation fidelity | ClinVar, OMIM #616409 |
| Intellectual disability, autosomal dominant 33 | De novo missense variants disrupt protein synthesis in developing neurons | ClinVar, OMIM #616409 |
| Autism spectrum disorder | Rare missense variants alter synaptic protein synthesis | ClinVar, literature |
| Motor neuron disease (amyotrophic lateral sclerosis) | Gain-of-function mutations cause protein aggregation and toxicity | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Heart | 22.1 | High |
| Skeletal muscle | 18.7 | High |
| Liver | 0.3 | Not detected |
| Kidney | 0.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 35.2 | High expression |
| U-87 MG (glioblastoma) | 22.8 | Moderate expression |
| HEK293 (embryonic kidney) | 0.8 | Low expression |
| HepG2 (hepatocellular carcinoma) | 0.4 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Gly70Ser | Missense | Rare | Reduced GTP binding, loss of function |
| p.Glu122Lys | Missense | Rare | Impaired tRNA binding, dominant negative |
| p.Arg241Trp | Missense | Rare | Gain of function, protein aggregation |
| p.Pro333Leu | Missense | Rare | Altered translation fidelity, neurodevelopmental phenotype |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in GTP-binding or tRNA-binding domains (e.g., p.Gly70Ser) reduce translation elongation efficiency.
Gain of Function (GOF)
Mutations such as p.Arg241Trp increase protein aggregation and toxicity, linked to motor neuron disease.
Dominant Negative (DN)
Mutations like p.Glu122Lys disrupt normal eEF1A2 function by interfering with tRNA delivery.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding (GO:0005525) | • Translation elongation factor activity (GO:0003746) |
| • Protein biosynthesis (GO:0006412) | • Ribosome binding (GO:0043022) |
| • Cytoplasm (GO:0005737) |
Pathways
• Eukaryotic translation elongation (Reactome R-HSA-156842)
• tRNA aminoacylation (Reactome R-HSA-379724)
• Protein metabolism (KEGG hsa03013)
Protein Summary
The eEF1A2 protein is a 462-amino acid GTP-binding protein that forms a ternary complex with GTP and aminoacyl-tRNA, delivering the tRNA to the A-site of the ribosome. It is highly homologous to eEF1A1 but differs in tissue specificity. eEF1A2 also has non-canonical roles in actin cytoskeleton organization and apoptosis regulation. Mutations in EEF1A2 lead to impaired protein synthesis and are strongly linked to neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EEF1A2 Knockout HEK293 Cell Line | EDJ-KQ4499 | Human | 1917 | Details Get a Quote |
| EEF1A2 Knockout A-549 Cell Line | EDJ-KQ27090 | Human | 1917 | Details Get a Quote |
| EEF1A2 Knockout HCT 116 Cell Line | EDJ-KQ27091 | Human | 1917 | Details Get a Quote |
| EEF1A2 Knockout HeLa Cell Line | EDJ-KQ25831 | Human | 1917 | Details Get a Quote |
