EIF4B
protein-codingeukaryotic translation initiation factor 4B, the group of RNA binding motif containing
Gene summary
Enables RNA binding activity. Predicted to be involved in regulation of translational initiation. Predicted to be located in cytosol. Predicted to be part of eukaryotic translation initiation factor 4F complex. Predicted to be active in nucleus and postsynapse. Biomarker of autism spectrum disorder and major depressive disorder. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~35.9 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to EIF4B variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001417.7. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | 1 | 3 | |||
| missense | 78 | 78 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 81 | 1 | 0 | 82 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001408.2 | 15 | MANE Select | |
| Ensembl | ENSP00000262056.9 | 15 | MANE Select | |
| RefSeq | NP_001287750.1 | 15 | Standard | |
| RefSeq | NP_001317583.1 | 14 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- PI3K-Akt signaling pathway - Homo sapiens (human)
- mTOR signaling pathway - Homo sapiens (human)
- RNA transport - Homo sapiens (human)
- Proteoglycans in cancer - Homo sapiens (human)
- Translation Factors
Biological Process
- formation of translation preinitiation complex
- cytoplasmic translation
- translational initiation
- regulation of translational initiation
- eukaryotic translation initiation factor 4F complex assembly
Molecular Function
- RNA binding
- translation initiation factor activity
- protein binding
- RNA strand annealing activity
- RNA strand-exchange activity
Cellular Component
- cytosol
- polysome
- eukaryotic translation initiation factor 4F complex
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000262056
- Coding exons
- 15
- Length
- 36052
- Individuals with no LoFs
- 124786
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 4
- Defined
- 124790
- p
- 0.0000160
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 2.15 | 261 | 379 | 0.689 | 0.0000240 | 3978 |
| Missense (PolyPhen) | 47 | 71.482 | 0.65751 | 876 | ||
| Synonymous | -0.522 | 133 | 126 | 1.06 | 0.00000646 | 1205 |
| Loss of Function | 5.60 | 1 | 38.5 | 0.0260 | 0.00000257 | 392 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.000065 | 0.000065 | rare |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000018 | 0.000018 | rare |
| South Asian | 0.000033 | 0.000033 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Required for the binding of mRNA to ribosomes. Functions in close association with EIF4-F and EIF4-A. Binds near the 5'- terminal cap of mRNA in presence of EIF-4F and ATP. Promotes the ATPase activity and the ATP-dependent RNA unwinding activity of both EIF4-A and EIF4-F.;
Recessive Scores
- pRec
- 0.280
Intolerance Scores
- LoFtool
- 0.0987
- RVIS EVS
- -0.54
- RVIS percentile EVS
- 20.54
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- S
- Essential (gene trap)
- E
- Indispensability pred.
- E
- Indispensability score
- 0.991
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |