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25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DIS3
DIS3 exosome endoribonuclease and 3'-5' exoribonuclease
Chromosome 13 Β· 13q21.33
NCBI Gene: 22894Ensembl: ENSG00000083520.15HGNC: HGNC:20604UniProt: G3V1J5
151PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
RESEARCH IMPACT
Trending
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleolus3'-5'-RNA exonuclease activityprotein bindingRNA processingmultiple myelomaself-injurious ideationCOVID-19hidradenitis suppurativa
✦AI Summary

DIS3 is a catalytic component of the RNA exosome complex with dual 3'-5' exoribonuclease and endonuclease activities 1. In the nucleus, DIS3 processes stable RNAs (rRNA, snRNA, snoRNA), eliminates RNA by-products and aberrant transcripts, and participates in antibody diversification 1. In the cytoplasm, it degrades unstable mRNAs containing AU-rich elements and functions in RNA surveillance pathways 1. Recently, DIS3 was identified as responsible for circular RNA degradation through its endonucleolytic activity independently of the exosome complex, preferentially targeting U-rich circRNA sequences 2. DIS3 mutations occur in approximately 10% of multiple myeloma patients, with deletions of chromosome 13 affecting 40% of cases 3. DIS3 loss-of-function impairs cell cycle progression and centrosome duplication in myeloma cells, leading to genomic instability and potentially contributing to myelomagenesis 4. DIS3 mutations show oncogenic dependencies with specific translocation events and driver mutations in multiple myeloma 5. Despite high mutation frequency, the precise mechanisms linking DIS3 dysfunction to cancer pathogenesis remain incompletely understood 1.

Sources cited
1
DIS3 structure, catalytic mechanisms, and dual exoribonuclease/endonuclease activities; nuclear and cytoplasmic RNA processing functions; recurrent mutation in 11% of multiple myeloma patients
PMID: 26193331
2
DIS3 mediates circular RNA degradation through endonucleolytic activity independent of exosome complex; preference for U-rich motifs in circRNAs
PMID: 39965568
3
DIS3 mutations in ~10% of multiple myeloma patients; chromosome 13 deletions including DIS3 in ~40% of cases; role in RNA homeostasis and hematopoiesis
PMID: 36835493
4
DIS3 knockdown inhibits myeloma cell proliferation; impairs cell cycle progression and centrosome duplication; role in genomic instability and myelomagenesis
PMID: 37439377
5
DIS3 mutations identified as oncogenic drivers in multiple myeloma with dependencies on specific translocation events
PMID: 29884741
Disease Associationsβ“˜20
multiple myelomaOpen Targets
0.44Moderate
self-injurious ideationOpen Targets
0.31Weak
COVID-19Open Targets
0.23Weak
hidradenitis suppurativaOpen Targets
0.22Weak
emphysemaOpen Targets
0.13Weak
neoplasmOpen Targets
0.13Weak
Perlman syndromeOpen Targets
0.12Weak
Miyoshi myopathyOpen Targets
0.10Weak
retinitis pigmentosaOpen Targets
0.07Suggestive
Abruptio PlacentaeOpen Targets
0.06Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.06Suggestive
X-linked retinal dysplasiaOpen Targets
0.06Suggestive
Leber hereditary optic neuropathyOpen Targets
0.05Suggestive
age-related macular degenerationOpen Targets
0.05Suggestive
Cone rod dystrophyOpen Targets
0.05Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.04Suggestive
Stargardt diseaseOpen Targets
0.04Suggestive
hypertrophic cardiomyopathyOpen Targets
0.04Suggestive
Leber congenital amaurosis 13Open Targets
0.04Suggestive
coloboma of optic nerveOpen Targets
0.04Suggestive
Pathogenic Variants2
NM_014953.5(DIS3):c.1912C>T (p.Arg638Ter)Likely pathogenic
Multiple Myeloma Predisposition
β˜…β˜†β˜†β˜†2024β†’ Residue 638
NM_014953.5(DIS3):c.2335A>T (p.Ile779Phe)Likely pathogenic
Multiple myeloma
β˜†β˜†β˜†β˜†2019β†’ Residue 779
View on ClinVar β†—
Related Genes
PARNProtein interaction100%HBS1LProtein interaction100%ZCCHC7Protein interaction100%ZCCHC8Protein interaction86%SUPV3L1Protein interaction83%GTPBP1Protein interaction83%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
54%
Brain
50%
Ovary
47%
Lung
44%
Liver
41%
Gene Interaction Network
Click a node to explore
DIS3PARNHBS1LZCCHC7ZCCHC8SUPV3L1GTPBP1
PROTEIN STRUCTURE
Preparing viewer…
PDB6D6Q Β· 3.45 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.08LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.91 [0.77–1.08]
RankingsWhere DIS3 stands among ~20K protein-coding genes
  • #2,994of 20,598
    Most Researched151 Β· top quartile
  • #4,269of 5,498
    Most Pathogenic Variants2
  • #10,897of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedDIS3
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Identification of novel mutational drivers reveals oncogene dependencies in multiple myeloma.
PMID: 29884741
Blood Β· 2018
1.00
2
Degradation of circular RNA by the ribonuclease DIS3.
PMID: 39965568
Mol Cell Β· 2025
0.90
3
PMID: 36835493
Int J Mol Sci Β· 2023
0.80
4
A shape-shifting nuclease unravels structured RNA.
PMID: 36823385
Nat Struct Mol Biol Β· 2023
0.76
5
The 3' to 5' Exoribonuclease DIS3: From Structure and Mechanisms to Biological Functions and Role in Human Disease.
PMID: 26193331
Biomolecules Β· 2015
0.70