EEF2KMT
Eukaryotic Elongation Factor 2 Lysine Methyltransferase
Gene Information Card
| Symbol | EEF2KMT |
|---|---|
| Full Name | Eukaryotic Elongation Factor 2 Lysine Methyltransferase |
| Gene Type | Protein coding |
| Chromosomal Location | 16p12.1 |
| NCBI Gene ID | 196483 ncbi.nlm.nih.gov/gene/196483 |
| Ensembl ID | ENSG00000161921 |
| UniProt ID | Q53H82 |
| OMIM ID | 617984 |
| HGNC ID | 26364 |
| Aliases | METTL21B, FAM86A, FLJ22170 |
Description
EEF2KMT (eukaryotic elongation factor 2 lysine methyltransferase) encodes a protein that methylates eukaryotic elongation factor 2 (eEF2) at lysine residue 525. This methylation is important for the proper function of eEF2 in translation elongation. The gene is located on chromosome 16p12.1 and is also known as METTL21B and FAM86A.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations reported | Not applicable | No ClinVar or OMIM disease entries |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.4 | Medium |
| Brain | 8.2 | Medium |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Moderate expression |
| K562 | 8.5 | Low expression |
| HeLa | 10.2 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.100C>T | Synonymous | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
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)
| • protein-lysine N-methyltransferase activity (GO:0016279) | • protein methylation (GO:0006479) |
| • cytoplasm (GO:0005737) |
Pathways
• Translation elongation (Reactome: R-HSA-156842)
Protein Summary
The EEF2KMT protein is a methyltransferase that specifically methylates lysine 525 of eukaryotic elongation factor 2 (eEF2). This post-translational modification is essential for the fidelity and efficiency of translation elongation. The protein is localized in the cytoplasm and belongs to the class I-like SAM-binding methyltransferase superfamily.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| 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 |
