EIF3B

protein-coding

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

Gene summary

Enables RNA binding activity. Contributes to translation initiation factor activity. Involved in several processes, including IRES-dependent viral translational initiation; translational initiation; and viral translational termination-reinitiation. Located in cytoplasmic stress granule and cytosol. Part of eukaryotic translation initiation factor 3 complex. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

EIF3S9

MANE transcript

NM_001037283.2

Inheritance

ClinVar variants

P:3U:168B:11

Top phenotype

EIF3B-related disorder

gnomAD constraint

pLI —, LoF o/e 0

Max pathogenic AF

—

Genomic locus

chr7:2,354,086-2,380,745

External References & Databases

Ensembl (ENSG00000106263)

Transcript & Mutation Effects

hg38 • Region Span ~26.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

complex neurodevelopmental disorderMODERATE

Inheritance Pattern: AD

Disease ID:MONDO:0100038

Submitter: G2P

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to EIF3B variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 128

not providedTotal: 37

EIF3B-related disorderTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001037283.2. 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			5 clinvar	3 clinvar	6 clinvar	14
missense			144 clinvar	1 clinvar	1 clinvar	146
nonsense	2 clinvar		4 clinvar			6
start loss						0
frameshift	1 clinvar		6 clinvar			7
splice donor/acceptor (+/-2bp)			9 clinvar			9
Total	3	0	168	4	7	182

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 36 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001037283.2	RefSeq	NP_001032360.1	18	MANE Select
ENST00000360876.9	Ensembl	ENSP00000354125.4	18	MANE Select
NM_001362791.2	RefSeq	NP_001349720.1	18	Standard
NM_001362792.2	RefSeq	NP_001349721.1	15	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
eif3ba	Danio rerio	Structure: cranial neural crest cell Quality: apoptotic abnormal

Gene / Model

Organism

Observed Phenotype

eif3ba

Danio rerio

Structure: cranial neural crest cell

Quality: apoptotic

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

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

Biological Process

formation of cytoplasmic translation initiation complex
translational initiation
regulation of translational initiation
IRES-dependent viral translational initiation
viral translational termination-reinitiation

Molecular Function

RNA binding
translation initiation factor activity
protein binding
translation initiation factor binding
protein-containing complex scaffold activity

Cellular Component

cytosol
eukaryotic translation initiation factor 3 complex
eukaryotic 43S preinitiation complex
eukaryotic 48S preinitiation complex
synapse

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000360876
Coding exons: 18
Length: 26660
Individuals with no LoFs: 102195
Homozygous LoFs: 0
Heterozygous LoFs: 1
Defined: 102196
p: 0.00000489

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.82	327	434	0.754	0.0000255	5319
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
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)	0.000011	0.000011	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec: 0.137

Intolerance Scores

RVIS EVS: -0.62
RVIS percentile EVS: 17.31

Essentials

Essential (CRISPR): E
Essential (CRISPR2): E
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.867

Gene Damage Prediction

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