EIF4E2
eukaryotic translation initiation factor 4E family member 2
Basic information
Region (hg38): 2:232550659-232583644
Previous symbols: [ "EIF4EL3" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the EIF4E2 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 15 | 15 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 15 | 0 | 0 |
Variants in EIF4E2
This is a list of pathogenic ClinVar variants found in the EIF4E2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 2-232550743-G-A | not specified | Uncertain significance (Dec 16, 2023) | ||
| 2-232556493-C-T | not specified | Uncertain significance (Jun 16, 2023) | ||
| 2-232557900-C-T | not specified | Uncertain significance (Aug 02, 2021) | ||
| 2-232557911-C-T | not specified | Uncertain significance (Dec 18, 2023) | ||
| 2-232557956-G-A | not specified | Uncertain significance (Oct 05, 2023) | ||
| 2-232564271-A-G | not specified | Uncertain significance (Dec 07, 2023) | ||
| 2-232564280-G-A | not specified | Uncertain significance (Aug 13, 2021) | ||
| 2-232564284-G-A | not specified | Uncertain significance (Nov 09, 2022) | ||
| 2-232566829-G-A | not specified | Uncertain significance (Jun 18, 2021) | ||
| 2-232567124-C-T | not specified | Uncertain significance (Aug 30, 2022) | ||
| 2-232567139-G-A | not specified | Uncertain significance (Oct 27, 2023) | ||
| 2-232567159-C-T | not specified | Uncertain significance (Sep 12, 2023) | ||
| 2-232568970-A-G | not specified | Uncertain significance (Oct 27, 2021) | ||
| 2-232568998-C-G | not specified | Uncertain significance (Dec 18, 2023) | ||
| 2-232569000-C-T | not specified | Uncertain significance (Jan 23, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| EIF4E2 | protein_coding | protein_coding | ENST00000258416 | 7 | 33593 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.582 | 0.418 | 125745 | 0 | 3 | 125748 | 0.0000119 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.33 | 66 | 145 | 0.456 | 0.00000841 | 1640 |
| Missense in Polyphen | 6 | 30.561 | 0.19633 | 414 | ||
| Synonymous | 0.0985 | 48 | 48.9 | 0.982 | 0.00000261 | 429 |
| Loss of Function | 2.96 | 3 | 15.7 | 0.192 | 9.44e-7 | 156 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000291 | 0.0000291 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.0000462 | 0.0000462 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Recognizes and binds the 7-methylguanosine-containing mRNA cap during an early step in the initiation (PubMed:9582349, PubMed:17368478, PubMed:25624349). Acts as a repressor of translation initiation (PubMed:22751931). In contrast to EIF4E, it is unable to bind eIF4G (EIF4G1, EIF4G2 or EIF4G3), suggesting that it acts by competing with EIF4E and block assembly of eIF4F at the cap (By similarity). {ECO:0000250|UniProtKB:Q8BMB3, ECO:0000269|PubMed:17368478, ECO:0000269|PubMed:22751931, ECO:0000269|PubMed:25624349, ECO:0000269|PubMed:9582349}.;
- Pathway
- PI3K-Akt signaling pathway - Homo sapiens (human);mTOR signaling pathway - Homo sapiens (human);HIF-1 signaling pathway - Homo sapiens (human);RNA transport - Homo sapiens (human);Longevity regulating pathway - Homo sapiens (human);Insulin signaling pathway - Homo sapiens (human);Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;PI3K-Akt Signaling Pathway;Cytokine Signaling in Immune system;Immune System;ISG15 antiviral mechanism;Antiviral mechanism by IFN-stimulated genes;Interferon Signaling
(Consensus)
Recessive Scores
- pRec
- 0.0914
Intolerance Scores
- loftool
- 0.331
- rvis_EVS
- -0.34
- rvis_percentile_EVS
- 30.07
Haploinsufficiency Scores
- pHI
- 0.178
- hipred
- Y
- hipred_score
- 0.783
- ghis
- 0.625
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- K
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.988
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Eif4e2
- Phenotype
- growth/size/body region phenotype; homeostasis/metabolism phenotype; respiratory system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan);
Gene ontology
- Biological process
- in utero embryonic development;translational initiation;negative regulation of translation
- Cellular component
- cytosol;mRNA cap binding complex;eukaryotic translation initiation factor 4F complex
- Molecular function
- RNA cap binding;RNA 7-methylguanosine cap binding;RNA binding;translation initiation factor activity;protein binding;translation factor activity, RNA binding;ubiquitin protein ligase binding