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6 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EXOSC7
exosome component 7
Chromosome 3 · 3p21.31
NCBI Gene: 23016Ensembl: ENSG00000075914.14HGNC: HGNC:28112UniProt: B2RDZ9
97PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingexosome (RNase complex)nuclear speckcytosolneurodegenerative diseasecolorectal carcinomacancerneoplasm
✦AI Summary

EXOSC7 is a non-catalytic core component of the RNA exosome complex, a conserved 3'→5' exoribonuclease machinery essential for RNA processing and degradation across cellular compartments 1. In the nucleus, EXOSC7 participates in maturation of stable RNAs (rRNA, snRNA, snoRNA) and elimination of aberrant transcripts, including antisense RNAs and defective mRNAs destined for cytoplasmic export 2. Cytoplasmic EXOSC7 contributes to mRNA turnover, particularly degradation of AU-rich element-containing transcripts and RNA surveillance pathways preventing translation of aberrant mRNAs 2. EXOSC7 functions as part of the catalytically inactive 9-subunit exosomal core (Exo-9), which serves as a scaffold for binding catalytic subunits and accessory proteins 1. Clinically, EXOSC7 variants cause rare genetic diseases termed exosomopathies, with disease mechanisms including both reduced protein expression and functional defects 1. EXOSC7 dysregulation is associated with multiple pathological conditions: reduced expression in gestational diabetes placental tissues 3, genomic loss in cervical squamous cell carcinoma 4, and altered plasma peptide levels in Alzheimer's disease 5. These disease associations suggest EXOSC7's broader importance in cellular homeostasis beyond its canonical RNA exosome functions.

Sources cited
1
EXOSC7 is a non-catalytic core subunit of the RNA exosome complex; variants cause exosomopathies through reduced protein levels or direct functional defects
PMID: 39982806
2
EXOSC7 is part of the exosome complex involved in 18S rRNA processing and 40S ribosome maturation in the nucleolus
PMID: 37851577
3
EXOSC7 is downregulated in gestational diabetes placental tissues and associated with RNA degradation pathway dysregulation
PMID: 36473392
4
EXOSC7 is located in genomic regions of homozygous loss in cervical squamous cell carcinoma
PMID: 17504382
5
EXOSC7 shows altered plasma peptide levels in Alzheimer's disease compared to normal controls
PMID: 34182925
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.48Moderate
colorectal carcinomaOpen Targets
0.06Suggestive
cancerOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
prostate cancerOpen Targets
0.03Suggestive
breast carcinomaOpen Targets
0.02Suggestive
oral squamous cell carcinomaOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
Insulin resistanceOpen Targets
0.02Suggestive
chronic pancreatitisOpen Targets
0.02Suggestive
myocardial infarctionOpen Targets
0.02Suggestive
medullary thyroid gland carcinomaOpen Targets
0.02Suggestive
pancreatitisOpen Targets
0.01Suggestive
viral diseaseOpen Targets
0.01Suggestive
acute pancreatitisOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
prostate neoplasmOpen Targets
0.01Suggestive
amenorrheaOpen Targets
0.01Suggestive
OligomenorrheaOpen Targets
0.01Suggestive
Pituitary prolactin cell adenomaOpen 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%MTREXProtein interaction100%RPS28Protein interaction98%
Tissue Expression6 tissues
Heart
100%
Ovary
99%
Liver
84%
Lung
83%
Bone Marrow
76%
Brain
48%
Gene Interaction Network
Click a node to explore
EXOSC7PARNRBM7HBS1LEXOSC1MTREXRPS28
PROTEIN STRUCTURE
Preparing viewer…
PDB9G8M · 3.30 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.01LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.69 [0.48–1.01]
RankingsWhere EXOSC7 stands among ~20K protein-coding genes
  • #4,937of 20,598
    Most Researched97 · top quartile
  • #9,858of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedEXOSC7
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
The plasma peptides of Alzheimer's disease.
PMID: 34182925
Clin Proteomics · 2021
1.00
2
The new landscape of differentially expression proteins in placenta tissues of gestational diabetes based on iTRAQ proteomics.
PMID: 36473392
Placenta · 2023
0.83
3
ZNF692 organizes a hub specialized in 40S ribosomal subunit maturation enhancing translation in rapidly proliferating cells.
PMID: 37851577
Cell Rep · 2023
0.67
4
Humanized Saccharomyces cerevisiae provides a facile and effective tool to identify damaging human variants that cause exosomopathies.
PMID: 39982806
G3 (Bethesda) · 2025
0.50
5
Gene expression profiles in squamous cell cervical carcinoma using array-based comparative genomic hybridization analysis.
PMID: 17504382
Int J Gynecol Cancer · 2007
0.33