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.

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 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
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