EIF3B

eukaryotic translation initiation factor 3 subunit B, the group of Eukaryotic translation initiation factor 3|RNA binding motif containing|Armadillo like helical domain containing

Basic information

Region (hg38): 7:2354086-2380745

Previous symbols: [ "EIF3S9" ]

Links

ENSG00000106263 ∙ NCBI:8662 ∙ OMIM:603917 ∙ HGNC:3280 ∙ Uniprot:P55884 ∙ 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 EIF3B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EIF3B 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				2	7	9
missense			75	1	2	78
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1	1	2
non coding					18	18
Total	0	0	75	3	27

Variants in EIF3B

This is a list of pathogenic ClinVar variants found in the EIF3B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-2354661-C-T			Benign (May 11, 2021)
7-2354681-C-G			Benign (May 11, 2021)
7-2354793-C-CGCG			Benign (May 21, 2021)
7-2354932-C-T		not specified	Uncertain significance (Apr 23, 2024)
7-2354936-G-C			Uncertain significance (Jun 01, 2023)
7-2354993-G-A			Likely benign (May 18, 2018)
7-2355001-A-C		not specified	Uncertain significance (Jun 22, 2021)
7-2355018-G-C		not specified	Uncertain significance (Feb 22, 2025)
7-2355019-G-C		not specified	Uncertain significance (Jun 10, 2024)
7-2355034-C-A		not specified	Uncertain significance (Oct 03, 2024)
7-2355039-C-A		not specified	Uncertain significance (Nov 20, 2024)
7-2355039-C-T		not specified	Uncertain significance (Sep 20, 2024)
7-2355045-G-T		not specified	Uncertain significance (Sep 27, 2022)
7-2355057-G-A		not specified	Uncertain significance (Nov 25, 2024)
7-2355064-C-G		not specified	Uncertain significance (Jan 23, 2023)
7-2355069-G-A		not specified	Uncertain significance (Oct 06, 2021)
7-2355078-G-A		not specified	Uncertain significance (Oct 07, 2024)
7-2355080-G-C		not specified	Uncertain significance (May 01, 2024)
7-2355098-G-C		not specified	Uncertain significance (Mar 11, 2025)
7-2355111-T-C			Benign (May 04, 2021)
7-2355121-G-C		not specified	Uncertain significance (Jan 03, 2024)
7-2355122-G-C		not specified	Uncertain significance (Feb 03, 2022)
7-2355129-C-T		not specified	Uncertain significance (Nov 29, 2021)
7-2355141-G-T		not specified	Uncertain significance (Feb 17, 2023)
7-2355159-C-A		not specified	Uncertain significance (Jun 18, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EIF3B	protein_coding	protein_coding	ENST00000360876	18	26660

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	1.03e-7	102195	0	1	102196	0.00000489

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.82	327	434	0.754	0.0000255	5319
Missense in Polyphen		53	133.36	0.39742		1446
Synonymous	-3.97	231	166	1.39	0.0000114	1470
Loss of Function	6.19	0	44.6	0.00	0.00000224	506

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000113	0.0000113
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: RNA-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:9388245, PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:9388245, PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773). {ECO:0000255|HAMAP-Rule:MF_03001, ECO:0000269|PubMed:17581632, ECO:0000269|PubMed:25849773, ECO:0000269|PubMed:27462815, ECO:0000269|PubMed:9388245}.
• Pathway: RNA transport - Homo sapiens (human);Translation Factors;Formation of the ternary complex, and subsequently, the 43S complex;Translation initiation complex formation;Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S;Eukaryotic Translation Initiation;Translation;Metabolism of proteins;Formation of a pool of free 40S subunits;IL2;Ribosomal scanning and start codon recognition;L13a-mediated translational silencing of Ceruloplasmin expression;GTP hydrolysis and joining of the 60S ribosomal subunit;Cap-dependent Translation Initiation (Consensus)

Recessive Scores

• pRec: 0.137

Intolerance Scores

• rvis_EVS: -0.62
• rvis_percentile_EVS: 17.31

Haploinsufficiency Scores

• pHI: 0.977
• hipred: Y
• hipred_score: 0.785
• ghis: 0.608

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.867

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Eif3b
• 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)

Zebrafish Information Network

• Gene name: eif3ba
• Affected structure: cranial neural crest cell
• Phenotype tag: abnormal
• Phenotype quality: apoptotic

Gene ontology

• Biological process: formation of cytoplasmic translation initiation complex;translational initiation;regulation of translational initiation;IRES-dependent viral translational initiation;viral translational termination-reinitiation
• Cellular component: cytosol;eukaryotic translation initiation factor 3 complex;eukaryotic 43S preinitiation complex;eukaryotic 48S preinitiation complex;synapse;extracellular exosome;eukaryotic translation initiation factor 3 complex, eIF3m
• Molecular function: RNA binding;translation initiation factor activity;protein binding;translation initiation factor binding;protein-containing complex scaffold activity