EIF4G1

Chr 3AD

eukaryotic translation initiation factor 4 gamma 1

Also known as: EIF-4G1, EIF4F, EIF4G, EIF4GI, P220, PARK18

The protein encoded by this gene is a component of the multi-subunit protein complex EIF4F. This complex facilitates the recruitment of mRNA to the ribosome, which is a rate-limiting step during the initiation phase of protein synthesis. The recognition of the mRNA cap and the ATP-dependent unwinding of 5'-terminal secondary structure is catalyzed by factors in this complex. The subunit encoded by this gene is a large scaffolding protein that contains binding sites for other members of the EIF4F complex. A domain at its N-terminus can also interact with the poly(A)-binding protein, which may mediate the circularization of mRNA during translation. Alternative splicing results in multiple transcript variants, some of which are derived from alternative promoter usage. [provided by RefSeq, Aug 2010]

GeneReviewsOMIMResearchGenerating clinical summary…
LOFmechanismADLOEUF 0.071 OMIM phenotype
Clinical SummaryEIF4G1
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
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GeneReview available — EIF4G1
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint?
0.07LOEUF
pLI 1.000
Z-score 8.33
OE 0.02 (0.010.07)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?
2.22Z-score
OE missense 0.79 (0.750.84)
727 obs / 916.4 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.02 (0.010.07)
00.351.4
Missense OE?0.79 (0.750.84)
00.61.4
Synonymous OE?1.17
01.21.6
LoF obs/exp: 2 / 84.7Missense obs/exp: 727 / 916.4Syn Z: -2.54

This gene — mechanism propensity

DN
0.16100th %ile
GOF
0.2895th %ile
LOF
0.81top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.07

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

EIF4G1 · 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

No active trials found for this gene.

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