EIF4E2

eukaryotic translation initiation factor 4E family member 2

Basic information

Region (hg38): 2:232550658-232583644

Previous symbols: [ "EIF4EL3" ]

Links

ENSG00000135930 ∙ NCBI:9470 ∙ OMIM:605895 ∙ HGNC:3293 ∙ Uniprot:O60573 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the EIF4E2 gene.

• Inborn genetic diseases (9 variants)

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			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	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: gnomAD

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: dbNSFP

• 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