EIF3C

protein-coding

eukaryotic translation initiation factor 3 subunit C, the group of MicroRNA protein coding host genes|Eukaryotic translation initiation factor 3

Gene summary

Enables ribosome binding activity. Contributes to translation initiation factor activity. Involved in positive regulation of translation and translational initiation. Located in cytosol. Part of eukaryotic translation initiation factor 3 complex. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

EIF3S8

MANE transcript

NM_003752.5

Inheritance

—

ClinVar variants

U:12

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.45

Max pathogenic AF

—

Genomic locus

chr16:28,688,558-28,735,727

External References & Databases

Ensembl (ENSG00000184110)

Transcript & Mutation Effects

hg38 • Region Span ~47.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to EIF3C variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 11

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_003752.5. 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						0
missense			11 clinvar			11
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	12	0	0	12

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 81 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_003752.5	RefSeq	NP_003743.1	20	MANE Select
ENST00000331666.11	Ensembl	ENSP00000332604.7	20	MANE Select
NM_001037808.2	RefSeq	NP_001032897.1	20	Standard
NM_001199142.1	RefSeq	NP_001186071.1	20	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
eif3c	Danio rerio	Structure: whole organism Quality: deformed abnormal

Gene / Model

Organism

Observed Phenotype

eif3c

Danio rerio

Structure: whole organism

Quality: deformed

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
positive regulation of translation
positive regulation of mRNA binding

Molecular Function

RNA binding
translation initiation factor activity
protein binding
translation initiation factor binding

Cellular Component

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

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000331666
Coding exons: 20
Length: 47173
Individuals with no LoFs: 124462
Homozygous LoFs: 1
Heterozygous LoFs: 67
Defined: 124530
p: 0.000273

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0653	45	46.3	0.973	0.00000267	6024
Missense (PolyPhen)		6	11.813	0.50792		2047
Synonymous	1.19	11	17.3	0.636	9.44e-7	1696
Loss of Function	-0.844	6	4.14	1.45	1.79e-7	574

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.000062	rare
Latino/Admixed American	0.00020	0.00020	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000099	0.000099	rare
South Asian	0.0016	0.0016	notable
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (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: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_03002, ECO:0000269|PubMed:17581632, ECO:0000269|PubMed:25849773, ECO:0000269|PubMed:27462815}.;

Recessive Scores

pRec: 0.163

Essentials

Essential (CRISPR): E
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.539

Gene Damage Prediction

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