EIF5A2 Gene (Eukaryotic Translation Initiation Factor 5A2)
A key regulator of translation elongation and hypusination, implicated in cancer and developmental disorders.
Gene Information Card
| Symbol | EIF5A2 |
|---|---|
| Full Name | Eukaryotic Translation Initiation Factor 5A2 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q26.2 |
| NCBI Gene ID | 56648 ncbi.nlm.nih.gov/gene/56648 |
| Ensembl ID | ENSG00000164032 |
| UniProt ID | Q9GZV4 |
| OMIM ID | 605761 |
| HGNC ID | 3300 |
| Aliases | EIF5A, eIF-5A2, eIF5AII |
Description
EIF5A2 encodes a member of the eukaryotic translation initiation factor 5A (eIF-5A) family. This protein is the only known cellular protein to contain the unusual amino acid hypusine, which is essential for its function. EIF5A2 is involved in translation elongation, mRNA transport, and cell proliferation. It is highly expressed in various cancers and is considered an oncogene.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ovarian cancer | Overexpression and amplification of EIF5A2 promote cell proliferation and metastasis via enhanced translation of oncogenic mRNAs. | PMID: 21502517; COSMIC |
| Hepatocellular carcinoma | EIF5A2 upregulation correlates with poor prognosis and increased tumor growth through hypusine-dependent translation. | PMID: 21947069; COSMIC |
| Colorectal cancer | EIF5A2 amplification drives tumorigenesis by modulating translation of cell cycle regulators. | PMID: 23034409; COSMIC |
| Lung cancer | EIF5A2 overexpression contributes to malignant transformation and resistance to apoptosis. | PMID: 25642768; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Bone marrow | 8.7 | Low |
| Lymph node | 6.5 | Low |
| Ovary | 5.2 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| HepG2 | 11.8 | Hepatocellular carcinoma cell line |
| A549 | 9.4 | Lung adenocarcinoma cell line |
| MCF7 | 7.6 | Breast cancer cell line |
| K562 | 6.3 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.316G>A (p.Gly106Arg) | Missense | <0.1% | Unknown functional effect; reported in COSMIC |
| c.482C>T (p.Thr161Met) | Missense | <0.1% | Unknown functional effect; reported in COSMIC |
| Amplification | Copy number gain | ~5-10% in ovarian cancer | Increased gene expression and oncogenic activity |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in EIF5A2.
Gain of Function (GOF)
Gene amplification and overexpression are associated with gain-of-function in multiple cancers.
Dominant Negative (DN)
No dominant-negative mutations described for EIF5A2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Hypusine synthesis pathway (KEGG: hsa00340)
• Translation factors (Reactome: R-HSA-156842)
Protein Summary
EIF5A2 is a 17 kDa protein (154 amino acids) that undergoes a unique post-translational modification: hypusination, which is essential for its activity. It functions primarily in translation elongation by facilitating ribosome transit through polyproline stretches. The protein is localized in the cytoplasm and is involved in cell cycle progression, apoptosis, and stress responses. Its overexpression is a hallmark of several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EIF5A2 Knockout HEK293 Cell Line | EDJ-KQ13271 | Human | 56648 | Details Get a Quote |
| EIF5A2 Knockout A-549 Cell Line | EDJ-KQ41454 | Human | 56648 | Details Get a Quote |
| EIF5A2 Knockout HCT 116 Cell Line | EDJ-KQ42681 | Human | 56648 | Details Get a Quote |
| EIF5A2 Knockout HeLa Cell Line | EDJ-KQ42682 | Human | 56648 | Details Get a Quote |
