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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DIS3L
DIS3 like exosome 3'-5' exoribonuclease
Chromosome 15 · 15q22.31
NCBI Gene: 115752Ensembl: ENSG00000166938.14HGNC: HGNC:28698UniProt: Q8TF46
38PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
rRNA catabolic processcytoplasmic exosome (RNase complex)cytosolprotein bindingprostate carcinomasmoking initiationchronic obstructive pulmonary diseasemathematical ability
✦AI Summary

DIS3L is a catalytic 3'→5' exoribonuclease component of the cytoplasmic RNA exosome complex with broad roles in RNA metabolism 1. Its primary function is degrading cytoplasmic RNAs, including mRNAs with AU-rich elements in their 3' untranslated regions and histone mRNAs, while participating in RNA surveillance to prevent translation of aberrant transcripts 2. DIS3L also regulates microRNA stability by degrading miRNAs bearing oligoadenylated 3' tails added by PAPD5; this regulation controls miRNA levels affecting p53 translation 3. Additionally, DIS3L participates in degrading Y RNAs when they acquire oligoadenylation marks 4. Functionally, DIS3L exhibits genetic interactions with genes involved in RNA processing, splicing, and export, revealing its integration within broader cellular RNA metabolism networks 5. Disease relevance includes association with refractive error susceptibility 6 and roles in medulloblastoma development where DIS3L is required for human medulloblastoma cell growth 7. Mutations in DIS3L are associated with human diseases related to exoribonuclease dysfunction 2. However, DIS3L loss in the epididymal initial segment is dispensable for normal spermatogenesis and male fertility 8, suggesting context-dependent essentiality.

Sources cited
1
DIS3L is a member of the RNase II/RNB family of 3'-5' exoribonucleases whose mutations are associated with human disease
PMID: 35247037
2
DIS3L is a 3'-5' exoribonuclease in the cytosol participating in RNA degradation and maturation
PMID: 30340785
3
DIS3L regulates miRNA stability by degrading miRNAs with oligoadenylated 3' tails, controlling miRNA levels affecting p53 regulation
PMID: 30770239
4
DIS3L degrades Y RNAs containing oligoadenylated tails added by PAPD5
PMID: 28760775
5
DIS3L has genetic interactions with genes involved in transcription, RNA export, and splicing, revealing integration within RNA metabolism networks
PMID: 34541468
6
DIS3L-MAP2K1 locus is associated with refractive error
PMID: 27020472
7
DIS3L is required for growth of human medulloblastoma cells
PMID: 25164012
8
DIS3L loss in epididymal initial segment is nonessential for sperm maturation and male fertility
PMID: 38875746
Disease Associationsⓘ20
prostate carcinomaOpen Targets
0.30Weak
smoking initiationOpen Targets
0.24Weak
chronic obstructive pulmonary diseaseOpen Targets
0.16Weak
mathematical abilityOpen Targets
0.16Weak
prostate cancerOpen Targets
0.12Weak
Familial prostate cancerOpen Targets
0.11Weak
major depressive disorderOpen Targets
0.10Suggestive
COVID-19Open Targets
0.09Suggestive
chronic venous hypertensionOpen Targets
0.07Suggestive
secondary malignant neoplasmOpen Targets
0.07Suggestive
renal carcinomaOpen Targets
0.04Suggestive
polycystic kidney disease 5Open Targets
0.04Suggestive
hepatorenocardiac degenerative fibrosisOpen Targets
0.04Suggestive
idiopathic hypereosinophilic syndromeOpen Targets
0.04Suggestive
insomniaOpen Targets
0.04Suggestive
nephronophthisis 16Open Targets
0.03Suggestive
congenital neutropenia-myelofibrosis-nephromegaly syndromeOpen Targets
0.03Suggestive
Recurrent infections-myelofibrosis-nephromegaly syndromeOpen Targets
0.03Suggestive
polycystic kidney disease 8Open Targets
0.03Suggestive
refractive errorOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EXOSC10Protein interaction100%HBS1LProtein interaction100%MTREXProtein interaction100%EXOSC4Protein interaction100%SUPV3L1Protein interaction81%GTPBP1Protein interaction81%
Tissue Expression6 tissues
Heart
100%
Brain
65%
Bone Marrow
64%
Ovary
50%
Liver
45%
Lung
31%
Gene Interaction Network
Click a node to explore
DIS3LEXOSC10HBS1LMTREXEXOSC4SUPV3L1GTPBP1
PROTEIN STRUCTURE
Preparing viewer…
PDB9G8M · 3.30 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.96LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.81 [0.69–0.96]
RankingsWhere DIS3L stands among ~20K protein-coding genes
  • #10,458of 20,598
    Most Researched38
  • #9,120of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedDIS3L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
How hydrolytic exoribonucleases impact human disease: Two sides of the same story.
PMID: 35247037
FEBS Open Bio · 2023
1.00
2
Landscape of functional interactions of human processive ribonucleases revealed by high-throughput siRNA screenings.
PMID: 34541468
iScience · 2021
0.90
3
The RNase PARN Controls the Levels of Specific miRNAs that Contribute to p53 Regulation.
PMID: 30770239
Mol Cell · 2019
0.80
4
PARN Modulates Y RNA Stability and Its 3'-End Formation.
PMID: 28760775
Mol Cell Biol · 2017
0.70
5
Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error.
PMID: 27020472
Nat Commun · 2016
0.60