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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EXOSC4
exosome component 4
Chromosome 8 · 8q24.3
NCBI Gene: 54512Ensembl: ENSG00000178896.10HGNC: HGNC:18189UniProt: Q9NPD3
123PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA exonuclease activitydefense response to virusDNA deaminationnuclear mRNA surveillanceneurodegenerative diseaseedemainterstitial lung diseaserheumatoid arthritis
✦AI Summary

EXOSC4 is a non-catalytic structural component of the RNA exosome complex, a multi-subunit ribonuclease machinery essential for cellular RNA processing and degradation 1. In the nucleus, EXOSC4 participates in maturation of stable RNAs including rRNA and snRNA, and eliminates defective mRNAs and non-coding transcripts 1. In the cytoplasm, it contributes to mRNA turnover and degradation of inherently unstable transcripts containing AU-rich elements 1. EXOSC4 binds RNA substrates and serves as a scaffold for catalytic subunit association within the exosome core complex 1. Pathogenic biallelic variants in EXOSC4 cause severe neurodevelopmental disorders characterized by global developmental delay, growth restriction, intracerebral calcifications, and kidney failure 1. At the molecular level, disease-associated variants reduce EXOSC4 protein stability and exosome assembly, leading to accumulation of unprocessed ribosomal RNA precursors and impaired translation 1. Clinically, EXOSC4 dysregulation associates with multiple malignancies. EXOSC4 amplification occurs across cancer types and represents a therapeutic target in pan-cancer ribosome biogenesis programs 2. High EXOSC4 expression independently predicts poor prognosis in diffuse large B-cell lymphoma and is required for pancreatic cancer cell survival 34. In colorectal and breast cancers, EXOSC4 overexpression promotes proliferation, invasion, and stem cell traits through multiple signaling pathways 56.

Sources cited
1
EXOSC4 is a non-catalytic structural component of the RNA exosome; pathogenic variants impair RNA processing, ribosomal RNA maturation, and translation
PMID: 39009343
2
EXOSC4 is identified as a potential therapeutic target in pan-cancer ribosome biogenesis programs
PMID: 38343327
3
High EXOSC4 expression in diffuse large B-cell lymphoma is an independent poor prognostic factor for overall and progression-free survival
PMID: 38071046
4
EXOSC4 is amplified across multiple cancer types and required for pancreatic cancer cell survival through regulation of BIK and SESN2 mRNA
PMID: 35008922
5
EXOSC4 overexpression in colorectal cancer promotes cell proliferation, invasion, migration, and is involved in cell cycle and Wnt pathway signaling
PMID: 30155936
6
EXOSC4 promotes breast cancer stem cell traits and is directly suppressed by tumor suppressor RUNX3
PMID: 38913281
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.52Moderate
edemaOpen Targets
0.12Weak
interstitial lung diseaseOpen Targets
0.07Suggestive
rheumatoid arthritisOpen Targets
0.07Suggestive
cancerOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.04Suggestive
diffuse large B-cell lymphomaOpen Targets
0.03Suggestive
placenta praeviaOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
meningiomaOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
ovarian cancerOpen Targets
0.01Suggestive
Neurodevelopmental disorderOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
liver cancerOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
breast neoplasmOpen Targets
0.01Suggestive
pancreatic adenocarcinomaOpen Targets
0.01Suggestive
Townes-Brocks syndromeOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PARNProtein interaction100%RBM7Protein interaction100%HBS1LProtein interaction100%EXOSC1Protein interaction100%DIS3LProtein interaction100%HELZ2Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Brain
66%
Lung
60%
Heart
37%
Ovary
35%
Bone Marrow
28%
Gene Interaction Network
Click a node to explore
EXOSC4PARNRBM7HBS1LEXOSC1DIS3LHELZ2
PROTEIN STRUCTURE
Preparing viewer…
PDB9G8M · 3.30 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.36LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.91 [0.62–1.36]
RankingsWhere EXOSC4 stands among ~20K protein-coding genes
  • #3,819of 20,598
    Most Researched123 · top quartile
  • #14,192of 17,882
    Most Constrained (LOEUF)1.36
Genes detectedEXOSC4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genomic hallmarks and therapeutic targets of ribosome biogenesis in cancer.
PMID: 38343327
Brief Bioinform · 2024
1.00
2
A biallelic variant of the RNA exosome gene, EXOSC4, associated with neurodevelopmental defects impairs RNA exosome function and translation.
PMID: 39009343
J Biol Chem · 2024
0.90
3
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
PMID: 36344539
Sci Rep · 2022
0.80
4
[Expression and Clinical Significance of Exosome Component 4 in Newly Diagnosed Patients with Diffuse Large B-Cell Lymphoma].
PMID: 38071046
Zhongguo Shi Yan Xue Ye Xue Za Zhi · 2023
0.70
5
EXOSC4 functions as a potential oncogene in development and progression of colorectal cancer.
PMID: 30155936
Mol Carcinog · 2018
0.60