EIF2B3

Chr 1

eukaryotic translation initiation factor 2B subunit gamma

Also known as: EIF-2B, EIF2Bgamma, VWM3

NCBI Gene: 8891ENSG00000070785UniProt: Q9NR50

The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLeukoencephalopathy with vanishing white matter 3

Clinical highlights

Gene-disease validity (ClinGen)
leukoencephalopathy with vanishing white matter 3 · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.43
LOEUF
—
Mechanism
📖
GeneReview available — EIF2B3
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.43LOEUF
pLI 0.567
Z-score 3.63
OE 0.21 (0.11–0.43)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.04Z-score
OE missense 0.81 (0.72–0.91)
198 obs / 243.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.21 (0.11–0.43)
0≤0.351.4
Missense OE?0.81 (0.72–0.91)
0≤0.61.4
Synonymous OE?0.80
0≤1.21.6
LoF obs/exp: 5 / 24.3Missense obs/exp: 198 / 243.9Syn Z: 1.41

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

EIF2B3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients