EEF1AKMT2 Gene
Eukaryotic Elongation Factor 1 Alpha Lysine Methyltransferase 2
Gene Information Card
| Symbol | EEF1AKMT2 |
|---|---|
| Full Name | Eukaryotic Elongation Factor 1 Alpha Lysine Methyltransferase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 100170841 ncbi.nlm.nih.gov/gene/100170841 |
| Ensembl ID | ENSG00000204149 |
| UniProt ID | A6NNW6 |
| OMIM ID | 617984 |
| HGNC ID | 44298 |
| Aliases | METTL21B, FAM86A, eEF1A-KMT2 |
Description
EEF1AKMT2 encodes a lysine methyltransferase that specifically methylates eukaryotic elongation factor 1 alpha (eEF1A) at lysine residues. This modification regulates translation elongation and protein synthesis fidelity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Brain | 4.1 | Low |
| Heart | 3.5 | Low |
| Liver | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 5.0 | Moderate expression |
| HeLa | 3.2 | Low expression |
| K562 | 2.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96His) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Not characterized
Gain of Function (GOF)
Not characterized
Dominant Negative (DN)
Not characterized
View complete mutation data：
Gene Ontology (GO)
| • protein methyltransferase activity (GO:0008276) | • histone-lysine N-methyltransferase activity (GO:0018024) |
| • cytoplasm (GO:0005737) |
Pathways
• Translation elongation (Reactome: R-HSA-156842)
Protein Summary
EEF1AKMT2 is a 245-amino acid protein containing a methyltransferase domain. It catalyzes the trimethylation of lysine residues in eEF1A, influencing translation elongation efficiency and accuracy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EEF1AKMT2 Knockout HEK293 Cell Line | EDJ-KQ2421 | Human | 399818 | Details Get a Quote |
| EEF1AKMT2 Knockout A-549 Cell Line | EDJ-KQ22929 | Human | 399818 | Details Get a Quote |
| EEF1AKMT2 Knockout HCT 116 Cell Line | EDJ-KQ22930 | Human | 399818 | Details Get a Quote |
| EEF1AKMT2 Knockout HeLa Cell Line | EDJ-KQ21608 | Human | 399818 | Details Get a Quote |
