EIF2S2 (Eukaryotic Translation Initiation Factor 2 Subunit 2)
A core component of the eIF2 complex regulating protein synthesis initiation and stress responses.
Gene Information Card
| Symbol | EIF2S2 |
|---|---|
| Full Name | Eukaryotic Translation Initiation Factor 2 Subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q11.22 |
| NCBI Gene ID | 8894 ncbi.nlm.nih.gov/gene/8894 |
| Ensembl ID | ENSG00000125977 |
| UniProt ID | P20042 |
| OMIM ID | 603908 |
| HGNC ID | 3265 |
| Aliases | EIF2B, eIF-2β, eIF2beta |
Description
EIF2S2 encodes the beta subunit of eukaryotic initiation factor 2 (eIF2), a heterotrimeric complex essential for the initiation of mRNA translation. The eIF2 complex binds GTP and methionyl-tRNAi to the 40S ribosomal subunit. EIF2S2 is involved in the regulation of translation under stress conditions via phosphorylation of its alpha subunit. The gene is located on chromosome 20q11.22 and is widely expressed.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microcephaly, epilepsy, and developmental delay | Missense mutations in EIF2S2 impair eIF2 complex assembly and translation initiation, leading to neurodevelopmental defects. | ClinVar, OMIM |
| Cancer (various types) | Altered EIF2S2 expression contributes to dysregulated protein synthesis in tumor cells, promoting proliferation and survival. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 18.5 | High |
| Liver | 15.2 | High |
| Heart | 12.8 | Medium |
| Kidney | 14.1 | High |
| Lung | 11.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.4 | High expression |
| HeLa | 19.7 | High expression |
| K562 | 16.3 | Medium expression |
| A549 | 14.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.454C>T (p.Arg152Trp) | Missense | Rare | Impaired eIF2 complex formation |
| c.626A>G (p.Asn209Ser) | Missense | Rare | Reduced translation initiation efficiency |
Mutation functional classification
Loss of Function (LOF)
Missense mutations reduce eIF2 complex stability and translation initiation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• hsa03013 - RNA transport
• hsa04141 - Protein processing in endoplasmic reticulum
• hsa05016 - Huntington disease
• hsa05200 - Pathways in cancer
Protein Summary
EIF2S2 encodes the beta subunit (eIF2β) of the eukaryotic initiation factor 2 complex. This 333-amino acid protein contains a zinc finger domain and is essential for binding GTP and methionyl-tRNAi. eIF2β interacts with the alpha and gamma subunits to form the functional eIF2 heterotrimer. The protein is highly conserved and plays a critical role in the regulation of protein synthesis under normal and stress conditions.
Related Services
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|---|---|---|---|---|
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