EEF1B2

Chr 2

eukaryotic translation elongation factor 1 beta 2

Also known as: EEF1B, EEF1B1, EF1B

NCBI Gene: 1933 ENSG00000114942 UniProt: P24534 OMIM: 600655

This gene encodes a catalytic subunit of the guanine nucleotide exchange factor that stimulates GDP-to-GTP exchange on elongation factor 1A during protein synthesis at the ribosome. Mutations cause autosomal recessive intellectual disability with seizures and language delay, typically presenting in early childhood. The gene shows moderate constraint against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a translation elongation factor. The protein is a guanine nucleotide exchange factor involved in the transfer of aminoacylated tRNAs to the ribosome. Alternative splicing results in three transcript variants which differ only in the 5' UTR. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

LOFmechanismLOEUF 0.75

Clinical Summary— EEF1B2

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.33) despite low pLI — interpret in context.

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ClinVar Variants

3 unique Pathogenic / Likely Pathogenic· 26 VUS of 42 total submissions

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.75LOEUF

pLI 0.066

Z-score 2.17

OE 0.33 (0.16–0.75)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.33Z-score

OE missense 0.92 (0.79–1.07)

114 obs / 124.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.33 (0.16–0.75)

0≤0.351.4

Missense OE?0.92 (0.79–1.07)

0≤0.61.4

Synonymous OE?1.06

0≤1.21.6

LoF obs/exp: 4 / 12.2Missense obs/exp: 114 / 124.3Syn Z: -0.35

Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗

limitedEEF1B2-related intellectual developmental disorderLOFAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

0.6647th %ile

GOF

0.5170th %ile

LOF

0.3067th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

42 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic3

VUS26

Likely Benign3

Benign1

Pathogenic

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	3	0	0	0	3
Likely Pathogenic	0	0	0	0	0
VUS	0	26	0	0	26
Likely Benign	0	1	0	2	3
Benign	0	0	1	0	1
Total	3	27	1	2	33

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

26 pathogenic / likely-pathogenic (of 30) ClinVar copy-number / structural variants overlap EEF1B2 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →