EIF2A
Eukaryotic Translation Initiation Factor 2A
Gene Information Card
| Symbol | EIF2A |
|---|---|
| Full Name | Eukaryotic Translation Initiation Factor 2A |
| Gene Type | protein-coding |
| Chromosomal Location | 3q27.2 |
| NCBI Gene ID | 83939 ncbi.nlm.nih.gov/gene/83939 |
| Ensembl ID | ENSG00000144895 |
| UniProt ID | Q9BY44 |
| OMIM ID | 609387 |
| HGNC ID | 3254 |
| Aliases | C3H6orf34, EIF-2A, MST089, MSTP089 |
Description
EIF2A (eukaryotic translation initiation factor 2A) is a protein-coding gene located on chromosome 3q27.2. It encodes a 65 kDa protein that functions as a translation initiation factor, specifically binding to initiator methionyl-tRNA and promoting the formation of the 43S preinitiation complex. EIF2A is involved in cap-dependent and cap-independent translation, particularly under stress conditions such as amino acid starvation or viral infection. The gene is conserved across eukaryotes and plays a role in cellular stress responses and protein synthesis regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and spasticity (NEDMIS) | Loss-of-function mutations in EIF2A impair translation initiation, leading to reduced protein synthesis and neuronal dysfunction. | ClinVar, OMIM |
| Autism spectrum disorder (ASD) | Rare variants in EIF2A have been associated with ASD, possibly through dysregulation of synaptic protein translation. | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Liver | 6.1 | Low |
| Heart | 5.4 | Low |
| Kidney | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 11.8 | Medium expression |
| K562 | 9.4 | Medium expression |
| HepG2 | 7.1 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Ter) | Nonsense | Rare | Loss of function; associated with NEDMIS |
| c.1280G>A (p.Arg427Gln) | Missense | Rare | Likely damaging; reported in ASD |
| c.1543C>T (p.Arg515Trp) | Missense | Rare | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay, associated with neurodevelopmental disorders.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Eukaryotic Translation Initiation (Reactome: R-HSA-72613)
• Cap-dependent Translation Initiation (Reactome: R-HSA-72737)
• Translation (KEGG: hsa03010)
Protein Summary
EIF2A is a 65 kDa protein (585 amino acids) that functions as a translation initiation factor. It contains a conserved SUI1 domain and binds to the initiator methionyl-tRNA (Met-tRNAi) to facilitate its recruitment to the 40S ribosomal subunit. Unlike the canonical eIF2 complex, EIF2A can function independently under stress conditions, such as amino acid deprivation or viral infection, to promote translation of specific mRNAs. The protein is ubiquitously expressed, with highest levels in brain and testis. Structural studies show it forms a beta-barrel fold that interacts with RNA and ribosomal components.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EIF2AK4 Knockout HEK293 Cell Line | EDJ-KQ1936 | Human | 440275 | Details Get a Quote |
| EIF2AK3 Knockout HEK293 Cell Line | EDJ-KQ1938 | Human | 9451 | Details Get a Quote |
| EIF2AK2 Knockout HEK293 Cell Line | EDJ-KQ2040 | Human | 5610 | Details Get a Quote |
| EIF2AK1 Knockout HEK293 Cell Line | EDJ-KQ8679 | Human | 27102 | Details Get a Quote |
| EIF2A Knockout HEK293 Cell Line | EDJ-KQ9941 | Human | 83939 | Details Get a Quote |
| EIF2AK2 Knockout A-549 Cell Line | EDJ-KQ22083 | Human | 5610 | Details Get a Quote |
| EIF2AK2 Knockout HCT 116 Cell Line | EDJ-KQ22084 | Human | 5610 | Details Get a Quote |
| EIF2AK2 Knockout HeLa Cell Line | EDJ-KQ22085 | Human | 5610 | Details Get a Quote |
| EIF2A Knockout HeLa Cell Line | EDJ-KQ18221 | Human | 83939 | Details Get a Quote |
| EIF2AK3 Knockout HeLa Cell Line | EDJ-KQ20578 | Human | 9451 | Details Get a Quote |
| EIF2AK4 Knockout A-549 Cell Line | EDJ-KQ21868 | Human | 440275 | Details Get a Quote |
| EIF2AK4 Knockout HCT 116 Cell Line | EDJ-KQ21869 | Human | 440275 | Details Get a Quote |
| EIF2AK4 Knockout HeLa Cell Line | EDJ-KQ21870 | Human | 440275 | Details Get a Quote |
| EIF2AK3 Knockout A-549 Cell Line | EDJ-KQ21871 | Human | 9451 | Details Get a Quote |
| EIF2AK3 Knockout HCT 116 Cell Line | EDJ-KQ21872 | Human | 9451 | Details Get a Quote |