HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
6 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
EXOSC6
exosome component 6
Chromosome 16 · 16q22.1
NCBI Gene: 118460Ensembl: ENSG00000223496.3HGNC: HGNC:19055UniProt: Q5RKV6
107PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA catabolic processRNA exonuclease activitynucleolusnucleusneurodegenerative diseasedepressive disorderneoplasmacute lymphoblastic leukemia
✦AI Summary

EXOSC6 is a non-catalytic structural component of the RNA exosome complex, a ribonuclease responsible for 3'→5' exoribonucleolytic activity and RNA processing 1. As part of the exosome's catalytically inactive core (Exo-9), EXOSC6 functions as a molecular scaffold for binding and presenting RNA substrates for degradation, facilitating nuclear maturation of stable RNAs (rRNA, snRNA, snoRNA) and elimination of defective transcripts, while also participating in cytoplasmic mRNA turnover and surveillance pathways 2. Disease relevance spans multiple cancer types: EXOSC6 peptide epitopes are uniquely presented on breast cancer cell surfaces and recognized by CD8+ T cells 1, while the gene appears dysregulated in colon adenocarcinoma tissues and represents a novel biomarker candidate 3. EXOSC6 is also incorporated into endoplasmic reticulum stress-related prognostic signatures for head and neck squamous cell carcinoma, correlating with immune infiltration patterns and immunotherapy response prediction 4. Additionally, genetic variants in EXOSC6 associate with facial aging susceptibility in multi-omics analyses 5, and hyperthermia treatment downregulates EXOSC6 expression in HPV-infected condyloma acuminata tissues, potentially compromising viral infectivity through metabolic disruption 2.

Sources cited
1
EXOSC6 peptide epitopes are uniquely presented on breast cancer cells and recognized by circulating CD8+ T cells
PMID: 18345606
2
EXOSC6 is significantly down-regulated in colon adenocarcinoma tissues compared to normal colon and identified as a novel protein biomarker candidate
PMID: 35842572
3
EXOSC6 is part of an endoplasmic reticulum stress-related signature that predicts HNSCC prognosis and immunotherapy response
PMID: 37087456
4
EXOSC6 genetic variants associate with facial aging as a protective gene in multi-omics Mendelian randomization analysis
PMID: 40588408
5
Hyperthermia treatment downregulates EXOSC6 expression in condyloma acuminata tissue, contributing to compromised HPV infectivity
PMID: 30909744
6
EXOSC6 is identified as a putative target gene of differentially expressed miRNAs under toluene exposure, related to disease categories including cancer and nervous system disease
PMID: 28245982
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.50Moderate
depressive disorderOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
acute lymphoblastic leukemiaOpen Targets
0.07Suggestive
osteoarthritis, hipOpen Targets
0.07Suggestive
osteoarthritis, kneeOpen Targets
0.06Suggestive
total joint arthroplastyOpen Targets
0.05Suggestive
hypertensionOpen Targets
0.05Suggestive
hyperlipidemiaOpen Targets
0.04Suggestive
Parkinson diseaseOpen Targets
0.04Suggestive
metabolic diseaseOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.04Suggestive
alcohol drinkingOpen Targets
0.04Suggestive
color vision disorderOpen Targets
0.03Suggestive
major depressive disorderOpen Targets
0.03Suggestive
response to xenobiotic stimulusOpen Targets
0.03Suggestive
Fabry diseaseOpen Targets
0.02Suggestive
osteoarthritisOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
cerebral creatine deficiency syndromeOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RBM7Protein interaction100%HBS1LProtein interaction100%MTREXProtein interaction100%EXOSC1Protein interaction100%XRN1Protein interaction100%HELZ2Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Liver
42%
Ovary
39%
Bone Marrow
37%
Heart
31%
Lung
29%
Gene Interaction Network
Click a node to explore
EXOSC6RBM7HBS1LMTREXEXOSC1XRN1HELZ2
PROTEIN STRUCTURE
Preparing viewer…
PDB9G8M · 3.30 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.95LoF Tolerant
pLIⓘ
0.04Tolerant
Observed/Expected LoF3.23 [0.60–1.95]
RankingsWhere EXOSC6 stands among ~20K protein-coding genes
  • #4,435of 20,598
    Most Researched107 · top quartile
  • #17,681of 17,882
    Most Constrained (LOEUF)1.95
Genes detectedEXOSC6
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Identification of breast cancer peptide epitopes presented by HLA-A*0201.
PMID: 18345606
J Proteome Res · 2008
1.00
2
Comparative analysis of microRNA and mRNA expression profiles in cells and exosomes under toluene exposure.
PMID: 28245982
Toxicol In Vitro · 2017
0.83
3
Proteomic analysis of low- and high-grade human colon adenocarcinoma tissues and tissue-derived primary cell lines reveals unique biological functions of tumours and new protein biomarker candidates.
PMID: 35842572
Clin Proteomics · 2022
0.67
4
Development of an endoplasmic reticulum stress-related signature with potential implications in prognosis and immunotherapy in head and neck squamous cell carcinoma.
PMID: 37087456
Diagn Pathol · 2023
0.50
5
[Multi-omics Mendelian randomization study on the causality between non-ionizing radiation and facial aging].
PMID: 40588408
Zhonghua Shao Shang Yu Chuang Mian Xiu Fu Za Zhi · 2025
0.33