Gene Gene information from NCBI Gene database.
Entrez ID 1965
Gene name Eukaryotic translation initiation factor 2 subunit alpha
Gene symbol EIF2S1
Synonyms (NCBI Gene)
EIF-2EIF-2AEIF-2alphaEIF2EIF2A
Chromosome 14
Chromosome location 14q23.3
Summary The translation initiation factor EIF2 catalyzes the first regulated step of protein synthesis initiation, promoting the binding of the initiator tRNA to 40S ribosomal subunits. Binding occurs as a ternary complex of methionyl-tRNA, EIF2, and GTP. EIF2 is
miRNA miRNA information provided by mirtarbase database.
904
miRTarBase ID miRNA Experiments Reference
MIRT004813 hsa-miR-21-5p Quantitative proteomic approach 19253296
MIRT019778 hsa-miR-375 Microarray 20215506
MIRT026383 hsa-miR-192-5p Sequencing 20371350
MIRT046815 hsa-miR-222-3p CLASH 23622248
MIRT070854 hsa-miR-520f-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
62
GO ID Ontology Definition Evidence Reference
GO:0000423 Process Mitophagy IDA 38340717
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IEA
GO:0003743 Function Translation initiation factor activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603907 3265 ENSG00000134001
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P05198
Protein name Eukaryotic translation initiation factor 2 subunit 1 (Eukaryotic translation initiation factor 2 subunit alpha) (eIF-2-alpha) (eIF-2A) (eIF-2alpha) (eIF2-alpha)
Protein function Member of the eIF2 complex that functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA (PubMed:16289705, PubMed:38340717). This complex binds to a 40S ribosomal subunit, followed by mRNA bindin
PDB 1KL9 , 1Q8K , 6K71 , 6K72 , 6O81 , 6O85 , 6O9Z , 6YBV , 6ZMW , 6ZP4 , 7A09 , 7D43 , 7D44 , 7D45 , 7F66 , 7F67 , 7NZM , 7QP6 , 7QP7 , 7SYR , 7SYS , 8OZ0 , 8PJ1 , 8PJ2 , 8PJ3 , 8PJ4 , 8PPL , 8QZZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00575 S1 14 88 S1 RNA binding domain Domain
PF07541 EIF_2_alpha 130 244 Eukaryotic translation initiation factor 2 alpha subunit Family
Sequence
Sequence length 315
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COGNITION DISORDERS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOSARCOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Confusional Senile Dementia Senile Dementia CTD_human_DG 17406652
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 12942578
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 27570551
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Early Onset Alzheimer disease CTD_human_DG 17406652
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease CTD_human_DG 17406652
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease CTD_human_DG 17406652
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease, Focal Onset Alzheimer disease CTD_human_DG 17406652
★☆☆☆☆
Found in Text Mining only
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED Amyloidosis BEFREE 27570551
★☆☆☆☆
Found in Text Mining only
Bloom Syndrome Bloom Syndrome BEFREE 8545108
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 18559534
★☆☆☆☆
Found in Text Mining only