EEF2 (Eukaryotic Translation Elongation Factor 2)
A key regulator of protein synthesis elongation, implicated in cancer and neurological disorders.
Gene Information Card
| Symbol | EEF2 |
|---|---|
| Full Name | Eukaryotic Translation Elongation Factor 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 1938 ncbi.nlm.nih.gov/gene/1938 |
| Ensembl ID | ENSG00000167658 |
| UniProt ID | P13639 |
| OMIM ID | 130610 |
| HGNC ID | 3262 |
| Aliases | EF2, SCA26, EEF-2 |
Description
EEF2 encodes eukaryotic translation elongation factor 2, a GTP-binding protein essential for the elongation step of protein synthesis. It catalyzes the translocation of peptidyl-tRNA from the A-site to the P-site on the ribosome. The gene is highly conserved and its activity is regulated by phosphorylation via EEF2 kinase. Mutations in EEF2 are associated with spinocerebellar ataxia type 26 (SCA26) and have been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinocerebellar ataxia type 26 (SCA26) | Missense mutations in EEF2 impair translation elongation, leading to Purkinje cell degeneration. | OMIM #130610; ClinVar |
| Colorectal cancer | EEF2 overexpression and altered phosphorylation promote tumor cell proliferation and metastasis. | COSMIC; PubMed studies |
| Breast cancer | EEF2 upregulation correlates with poor prognosis and resistance to chemotherapy. | COSMIC; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 45.2 | High |
| Heart | 38.1 | High |
| Liver | 32.5 | Medium |
| Kidney | 30.8 | Medium |
| Lung | 28.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 52.3 | Cervical cancer cell line |
| HEK293 | 48.7 | Embryonic kidney cell line |
| MCF7 | 44.1 | Breast cancer cell line |
| A549 | 40.6 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Pro585His | Missense | Rare (SCA26) | Impaired GTPase activity and translation elongation |
| p.Arg678Cys | Missense | Rare (SCA26) | Reduced ribosome translocation efficiency |
| p.Gly502Arg | Missense | Somatic (cancer) | Altered phosphorylation regulation |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in SCA26 reduce translation elongation activity, leading to neuronal dysfunction.
Gain of Function (GOF)
Overexpression in cancers may enhance protein synthesis and cell proliferation.
Dominant Negative (DN)
Mutant EEF2 in SCA26 may interfere with wild-type function in heterozygous state.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding (GO:0005525) | • Translation elongation factor activity (GO:0003746) |
| • Ribosome binding (GO:0043022) | • Cytoplasm (GO:0005737) |
| • Protein biosynthesis (GO:0006412) |
Pathways
• Eukaryotic translation elongation (Reactome R-HSA-156842)
• GTP hydrolysis and joining of the 60S ribosomal subunit (Reactome R-HSA-72706)
• Regulation of eEF2 activity (Reactome R-HSA-167162)
Protein Summary
EEF2 is a 857-amino acid GTP-binding protein that mediates the translocation step during mRNA translation. It is essential for cell growth and survival. The protein is inactivated by phosphorylation at Thr56 by EEF2 kinase, linking translation to cellular energy status. Mutations cause spinocerebellar ataxia, and dysregulation contributes to cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EEF2K Knockout HEK293 Cell Line | EDJ-KQ1868 | Human | 29904 | Details Get a Quote |
| EEF2K Knockout A-549 Cell Line | EDJ-KQ21740 | Human | 29904 | Details Get a Quote |
| EEF2K Knockout HCT 116 Cell Line | EDJ-KQ21741 | Human | 29904 | Details Get a Quote |
| EEF2K Knockout HeLa Cell Line | EDJ-KQ21742 | Human | 29904 | Details Get a Quote |
| EEF2KMT Knockout HEK293 Cell Line | EDJ-KQ52128 | Human | 196483 | Details Get a Quote |
| EEF2KMT Knockout HeLa Cell Line | EDJ-KQ58973 | Human | 196483 | Details Get a Quote |
| EEF2KMT Knockout A-549 Cell Line | EDJ-KQ67458 | Human | 196483 | Details Get a Quote |
| EEF2KMT Knockout HCT 116 Cell Line | EDJ-KQ75854 | Human | 196483 | Details Get a Quote |
