EEF1B2 Gene - Eukaryotic Translation Elongation Factor 1 Beta 2
A core component of the eukaryotic translation elongation factor 1 complex, involved in protein synthesis and implicated in cancer and developmental disorders.
Gene Information Card
| Symbol | EEF1B2 |
|---|---|
| Full Name | Eukaryotic Translation Elongation Factor 1 Beta 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q21.2 |
| NCBI Gene ID | 1933 ncbi.nlm.nih.gov/gene/1933 |
| Ensembl ID | ENSG00000101442 |
| UniProt ID | P24534 |
| OMIM ID | 600655 |
| HGNC ID | 3208 |
| Aliases | EF1B, EEF1B, EEF1B1, EF-1beta |
Description
EEF1B2 encodes the beta subunit of the eukaryotic translation elongation factor 1 complex (eEF1B). This complex is essential for the elongation step of protein synthesis, where it catalyzes the exchange of GDP for GTP on the alpha subunit (eEF1A), thereby recycling eEF1A for subsequent rounds of elongation. EEF1B2 is ubiquitously expressed and has been implicated in various cancers and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Overexpression of EEF1B2 promotes translation of oncogenic mRNAs, enhancing cell proliferation and metastasis. | COSMIC, PMID: 25691885 |
| Breast cancer | EEF1B2 upregulation correlates with poor prognosis; knockdown reduces tumor growth in vitro. | COSMIC, PMID: 28753424 |
| Neurodevelopmental disorder (intellectual disability) | Heterozygous missense variants in EEF1B2 impair eEF1B complex assembly and translation elongation. | ClinVar, PMID: 32004446 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 10.3 | Medium |
| Liver | 8.7 | Low |
| Kidney | 11.2 | Medium |
| Testis | 15.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.8 | High expression |
| HEK293 | 13.2 | High expression |
| K562 | 9.5 | Medium expression |
| MCF7 | 11.0 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.218G>A (p.Arg73His) | Missense | <0.01% | Impaired eEF1B complex formation; associated with intellectual disability |
| c.347C>T (p.Thr116Met) | Missense | <0.01% | Reduced translation elongation efficiency; reported in ClinVar |
| c.464_466del (p.Lys155del) | In-frame deletion | <0.01% | Disrupts interaction with eEF1A; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion variants that disrupt eEF1B complex assembly or catalytic activity reduce translation elongation efficiency.
Gain of Function (GOF)
Not reported; no activating mutations described in literature.
Dominant Negative (DN)
Heterozygous missense variants (e.g., p.Arg73His) likely act via dominant-negative mechanism by incorporating into the eEF1B complex and impairing function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Eukaryotic Translation Elongation (Reactome: R-HSA-156842)
• Formation of the ternary complex
• and subsequently
• the 43S complex (Reactome: R-HSA-72649)
• GTP hydrolysis and joining of the 60S ribosomal subunit (Reactome: R-HSA-72706)
Protein Summary
EEF1B2 (eukaryotic translation elongation factor 1 beta 2) is a 225-amino acid protein that forms part of the eEF1B complex, which also includes subunits gamma (EEF1G) and delta (EEF1D). The beta subunit acts as a guanine nucleotide exchange factor (GEF) for eEF1A, promoting the exchange of GDP for GTP. This recycling step is critical for the continuous delivery of aminoacyl-tRNAs to the ribosome during protein synthesis. EEF1B2 is localized in the cytoplasm and is highly expressed in tissues with active translation, such as testis and brain. Post-translational modifications include phosphorylation, which may regulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EEF1B2 Knockout HEK293 Cell Line | EDJ-KQ50251 | Human | 1933 | Details Get a Quote |
| EEF1B2 Knockout HeLa Cell Line | EDJ-KQ53141 | Human | 1933 | Details Get a Quote |
| EEF1B2 Knockout A-549 Cell Line | EDJ-KQ61614 | Human | 1933 | Details Get a Quote |
| EEF1B2 Knockout HCT 116 Cell Line | EDJ-KQ70101 | Human | 1933 | Details Get a Quote |
