eukaryotic translation elongation factor 1 alpha 2
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownundetermined early-onset epileptic encephalopathy
developmental and epileptic encephalopathy, 33
genetic developmental and epileptic encephalopathy
infantile epileptic encephalopathy
intellectual disability, autosomal dominant 38
hereditary disease
complex neurodevelopmental disorder
Intellectual disability
neoplasm
autosomal dominant non-syndromic intellectual disability
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Elongation factor 1-alpha 2
Translation elongation factor that catalyzes the GTP-dependent binding of aminoacyl-tRNA (aa-tRNA) to the A-site of ribosomes during the elongation phase of protein synthesis. Base pairing between the mRNA codon and the aa-tRNA anticodon promotes GTP hydrolysis, releasing the aa-tRNA from EEF1A1 and allowing its accommodation into the ribosome (By similarity). The growing protein chain is subsequently transferred from the P-site peptidyl tRNA to the A-site aa-tRNA, extending it by one amino acid through ribosome-catalyzed peptide bond formation (By similarity)
Curated MONDO disease pages that list EEF1A2 among their top associated genes.
EEF1A2 · Q05639
Mean pLDDT
88.7/ 100
Confident
463 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
