EEF1B2

Chr 2q33.3

eukaryotic translation elongation factor 1 beta 2

MANE:: ENST00000392222.7

OMIM: 600655 ↗NCBI: 1933 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

EEF1B2 · P24534

v62025-08-01

Predicted Aligned Error matrix for EEF1B2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

77.3/ 100

Confident

225 residues

Confidence breakdown

Very high(≥ 90)16%
Confident(70–90)61%
Low(50–70)11%
Very low(< 50)11%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegenerative disease
0.47
Global developmental delay
0.43
autosomal recessive non-syndromic intellectual disability
0.42
Intellectual disability
0.34
Seizure
0.34
Moderate global developmental delay
0.34
Abnormality of the skeletal system
0.27
hereditary disease
0.19
bone Paget disease
0.06
Kallmann syndrome
0.05

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Elongation factor 1-beta

Catalytic subunit of the guanine nucleotide exchange factor (GEF) (eEF1B subcomplex) of the eukaryotic elongation factor 1 complex (eEF1) (By similarity). Stimulates the exchange of GDP for GTP on elongation factor 1A (eEF1A), probably by displacing GDP from the nucleotide binding pocket in eEF1A (By similarity)