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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EXOSC2
exosome component 2
Chromosome 9 · 9q34.12
NCBI Gene: 23404Ensembl: ENSG00000130713.18HGNC: HGNC:17097UniProt: B3KQW2
152PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA exonuclease activityexosome (RNase complex)protein bindingcytosolretinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndromeneurodegenerative diseaseNeurodevelopmental delayRetinal dystrophy
✦AI Summary

EXOSC2 is a non-catalytic structural component of the RNA exosome complex, a multisubunit ribonuclease that processes and degrades various cellular RNAs 1. The protein functions in both nuclear and cytoplasmic compartments, participating in RNA processing, surveillance, and degradation pathways 1. EXOSC2 stabilizes the hexameric ring structure of the exosome core complex through interactions with other subunits, serving as a scaffold for catalytic components 1. The protein demonstrates RNA-binding capabilities and interacts with various cellular RNAs, including coding and non-coding species 2. Disease-wise, mutations in EXOSC2 cause a distinct syndrome characterized by retinitis pigmentosa, hearing loss, and mild intellectual disability, differing from other RNA exosomopathies 13. Recent studies reveal EXOSC2's role in viral replication, where reduced expression impedes SARS-CoV-2 replication through interactions with viral RNA polymerase components 45. Additionally, EXOSC2 shows oncogenic properties in breast cancer, promoting tumor progression through Wnt/β-catenin pathway activation, with its expression regulated by m6A methylation modifications 6. The protein's involvement in translation regulation and ribosome biogenesis has been demonstrated through comparative studies of disease-linked mutations 7.

Sources cited
1
EXOSC2 is a structural component of RNA exosome causing retinitis pigmentosa syndrome when mutated
PMID: 31768969
2
EXOSC2 mutations cause distinct tissue-specific disease phenotypes including retinitis pigmentosa
PMID: 29093021
3
EXOSC2 demonstrates RNA-binding capabilities and interacts with coding and non-coding RNAs
PMID: 30528433
4
Reduced EXOSC2 expression impedes SARS-CoV-2 replication through viral RNA polymerase interactions
PMID: 36241425
5
EXOSC2 interacts with SARS-CoV-2 Nsp8 protein and affects viral replication
PMID: 35291294
6
EXOSC2 promotes breast cancer progression via Wnt/β-catenin pathway and is regulated by m6A methylation
PMID: 37856011
7
Disease-linked EXOSC2 mutations affect translation and ribosome biogenesis
PMID: 40246537
Disease Associationsⓘ21
retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndromeOpen Targets
0.64Moderate
neurodegenerative diseaseOpen Targets
0.52Moderate
Neurodevelopmental delayOpen Targets
0.12Weak
Retinal dystrophyOpen Targets
0.11Weak
ovarian neoplasmOpen Targets
0.06Suggestive
COVID-19Open Targets
0.04Suggestive
multiple myelomaOpen Targets
0.04Suggestive
thrombophiliaOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.02Suggestive
diabetic neuropathyOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
acute myeloid leukemiaOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
infectionOpen Targets
0.01Suggestive
chronic myelogenous leukemiaOpen Targets
0.01Suggestive
retinitis pigmentosaOpen Targets
0.01Suggestive
hepatitis C virus infectionOpen Targets
0.01Suggestive
sclerodermaOpen Targets
0.01Suggestive
small cell lung carcinomaOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
Short stature, hearing loss, retinitis pigmentosa, and distinctive faciesUniProt
Pathogenic Variants2
NM_014285.7(EXOSC2):c.593G>A (p.Gly198Asp)Likely pathogenic
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome|not provided
★☆☆☆2024→ Residue 198
NM_014285.7(EXOSC2):c.611G>A (p.Trp204Ter)Likely pathogenic
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
★☆☆☆2022→ Residue 204
View on ClinVar ↗
Related Genes
RBM7Protein interaction100%HBS1LProtein interaction100%MTREXProtein interaction100%DIS3L2Protein interaction97%WDR75Protein interaction91%IMP3Protein interaction90%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
88%
Liver
73%
Brain
64%
Lung
55%
Heart
51%
Gene Interaction Network
Click a node to explore
EXOSC2RBM7HBS1LMTREXDIS3L2WDR75IMP3
PROTEIN STRUCTURE
Preparing viewer…
PDB9G8M · 3.30 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.01LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.74 [0.55–1.01]
RankingsWhere EXOSC2 stands among ~20K protein-coding genes
  • #2,970of 20,598
    Most Researched152 · top quartile
  • #4,268of 5,498
    Most Pathogenic Variants2
  • #9,802of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedEXOSC2
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
The Human RNA-Binding Proteome and Its Dynamics during Translational Arrest.
PMID: 30528433
Cell · 2019
1.00
2
The RNA Exosome and Human Disease.
PMID: 31768969
Methods Mol Biol · 2020
0.90
3
Low expression of EXOSC2 protects against clinical COVID-19 and impedes SARS-CoV-2 replication.
PMID: 36241425
Life Sci Alliance · 2023
0.80
4
Comprehensive bioinformatics analysis of EXOSC family genes in head and neck squamous cell carcinoma.
PMID: 40830179
Sci Rep · 2025
0.76
5
Identification of Potential Prognostic and Predictive Biomarkers for Immune-Checkpoint Inhibitor Response in Small Cell Lung Cancer.
PMID: 34719665
Med Sci Monit · 2021
0.72