EIF4G2

eukaryotic translation initiation factor 4 gamma 2, the group of MIF4G domain containing proteins|Small nucleolar RNA protein coding host genes

Basic information

Region (hg38): 11:10797050-10808940

Links

ENSG00000110321 ∙ NCBI:1982 ∙ OMIM:602325 ∙ HGNC:3297 ∙ Uniprot:P78344 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 20.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_001418.4	NP_001409.3	21	yes	-
ENST00000339995.11	ENSP00000340281.6	21	yes	-
NM_001042559.3	NP_001036024.3	20	-	-
NM_001172705.1	NP_001166176.1	21	-	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the EIF4G2 gene.

• not_specified (71 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EIF4G2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001418.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			3	2	1	6
missense			73	1		74
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4			4
Total	0	0	80	3	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EIF4G2	protein_coding	protein_coding	ENST00000526148	21	12061

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125721	0	3	125724	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.98	304	490	0.621	0.0000254	6011
Missense in Polyphen		80	212.32	0.37679		2727
Synonymous	-0.276	176	171	1.03	0.00000917	1668
Loss of Function	6.79	1	55.6	0.0180	0.00000330	608

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.000109	0.000109
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Appears to play a role in the switch from cap-dependent to IRES-mediated translation during mitosis, apoptosis and viral infection. Cleaved by some caspases and viral proteases. {ECO:0000269|PubMed:11511540, ECO:0000269|PubMed:11943866, ECO:0000269|PubMed:9032289, ECO:0000269|PubMed:9049310}.
• Pathway: Viral myocarditis - Homo sapiens (human);RNA transport - Homo sapiens (human);Exercise-induced Circadian Regulation;internal ribosome entry pathway;Cytokine Signaling in Immune system;Immune System;eukaryotic protein translation;ISG15 antiviral mechanism;Antiviral mechanism by IFN-stimulated genes;Interferon Signaling (Consensus)

Recessive Scores

• pRec: 0.153

Intolerance Scores

• rvis_EVS: -1.09
• rvis_percentile_EVS: 7.11

Essentials

• essential_gene_CRISPR: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.967

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Gene ontology

• Biological process: translational initiation;regulation of translational initiation;cell cycle arrest;cell death;negative regulation of autophagy;positive regulation of cell growth;cellular macromolecule biosynthetic process
• Cellular component: cytosol;cell-cell adherens junction;membrane;eukaryotic translation initiation factor 4F complex
• Molecular function: RNA binding;mRNA binding;translation initiation factor activity;protein binding;translation factor activity, RNA binding;cadherin binding