EIF5B
Eukaryotic Translation Initiation Factor 5B
Gene Information Card
| Symbol | EIF5B |
|---|---|
| Full Name | Eukaryotic Translation Initiation Factor 5B |
| Gene Type | protein-coding |
| Chromosomal Location | 2q11.2 |
| NCBI Gene ID | 9669 ncbi.nlm.nih.gov/gene/9669 |
| Ensembl ID | ENSG00000158417 |
| UniProt ID | O60841 |
| OMIM ID | 606048 |
| HGNC ID | 3300 |
| Aliases | IF2, eIF-5B, KIAA0741 |
Description
EIF5B encodes the eukaryotic translation initiation factor 5B, a GTPase that catalyzes the joining of the 60S ribosomal subunit to the 40S preinitiation complex, forming a functional 80S ribosome. This protein is essential for global protein synthesis and cell growth.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered EIF5B expression may dysregulate translation, promoting uncontrolled cell proliferation. | COSMIC; PubMed studies |
| Developmental disorders | Mutations affecting GTPase activity could impair ribosome assembly, leading to growth defects. | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Brain | 9.5 | Low |
| Liver | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.5 | High expression |
| HeLa | 16.2 | High expression |
| K562 | 14.0 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Lys412Glu) | Missense | <0.1% | Unknown functional impact |
| c.2567C>T (p.Thr856Ile) | Missense | <0.1% | Reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in EIF5B are rare and may impair translation initiation, potentially leading to reduced cell viability.
Gain of Function (GOF)
Gain-of-function mutations have not been well characterized; overexpression is observed in some cancers.
Dominant Negative (DN)
No dominant-negative mutations have been reported for EIF5B.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activity | • translation initiation factor activity |
| • ribosome binding | • cytoplasm |
| • eukaryotic 48S preinitiation complex | • eukaryotic 80S ribosome formation |
Pathways
• Eukaryotic Translation Initiation
• Ribosome Assembly
• GTPase Cycle
Protein Summary
EIF5B is a 1220-amino acid GTPase that mediates the final step of translation initiation. It binds GTP, interacts with the 40S ribosomal subunit, and promotes 60S subunit joining. The protein is highly conserved across eukaryotes and is essential for cell proliferation.
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