EEF2K
Eukaryotic Elongation Factor 2 Kinase
Gene Information Card
| Symbol | EEF2K |
|---|---|
| Full Name | Eukaryotic Elongation Factor 2 Kinase |
| Gene Type | protein-coding |
| Chromosomal Location | 16p12.2 |
| NCBI Gene ID | 29904 ncbi.nlm.nih.gov/gene/29904 |
| Ensembl ID | ENSG00000103319 |
| UniProt ID | O00418 |
| OMIM ID | 606968 |
| HGNC ID | 24615 |
| Aliases | eEF-2K, CaM kinase III, calmodulin-dependent protein kinase III |
Description
EEF2K encodes eukaryotic elongation factor 2 kinase, a calmodulin-dependent protein kinase that phosphorylates and inactivates eukaryotic elongation factor 2 (eEF2). This inhibits the elongation step of protein synthesis, regulating translation in response to cellular stress, nutrient availability, and calcium signaling. EEF2K is involved in cell growth, survival, and synaptic plasticity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression promotes tumor cell survival under stress by inhibiting translation of pro-apoptotic proteins | COSMIC, PubMed |
| Neurodegenerative disorders | Dysregulation linked to impaired synaptic plasticity and protein aggregation | PubMed |
| Ischemic injury | Activation under hypoxia reduces energy consumption, protecting cells | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Skeletal Muscle | 6.7 | Low |
| Liver | 2.1 | Not detected |
| Kidney | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.8 | Moderate expression |
| SH-SY5Y | 18.4 | High expression |
| MCF7 | 7.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown functional impact |
| c.567G>A (p.Glu189Lys) | Missense | <0.01% | Potential loss of kinase activity |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the catalytic domain may reduce kinase activity, impairing eEF2 phosphorylation.
Gain of Function (GOF)
Not well documented; activating mutations are rare.
Dominant Negative (DN)
No confirmed dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • calmodulin-dependent protein kinase activity | • ATP binding |
| • protein serine/threonine kinase activity | • regulation of translation |
| • cellular response to stress |
Pathways
• mTOR signaling pathway
• AMPK signaling
• Calcium signaling pathway
Protein Summary
EEF2K is a 725-amino acid protein with an N-terminal calmodulin-binding domain and a C-terminal kinase domain. It is activated by calcium/calmodulin and inhibited by mTOR and AMPK signaling. Phosphorylation of eEF2 at Thr56 reduces its affinity for ribosomes, slowing translation elongation. This kinase is critical for cellular adaptation to stress and is a potential therapeutic target in cancer and neurodegeneration.
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 |
