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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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AEN
apoptosis enhancing nuclease
Chromosome 15 · 15q26.1
NCBI Gene: 64782Ensembl: ENSG00000181026.16HGNC: HGNC:25722UniProt: Q8WTP8
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmnucleolusDNA exonuclease activityprotein bindinghyperthyroidismsystemic lupus erythematosusdiverticular diseasepathological myopia
✦AI Summary

AEN (apoptosis enhancing nuclease) is a DEDDh exonuclease family member that functions as a p53-regulated mediator of apoptosis in response to DNA damage 1. As an exonuclease with activity against single- and double-stranded DNA and RNA, AEN cleaves DNA substrates and colocalizes with other apoptotic nucleases (CAD, AIF) in the nucleus following ionizing radiation, amplifying DNA damage signals to enhance apoptosis 1. AEN is induced by p53 following genotoxic stress and synergistically increases apoptotic cell death when expressed, with its apoptotic function dependent on intact exonuclease activity 1. Beyond its canonical role in radiation-induced apoptosis, AEN exhibits antiviral properties independent of its catalytic function, suppressing porcine epidemic diarrhea virus replication by activating type I interferon (IFN-α, IFN-β) and interferon-stimulated gene (ISG) expression 2. Clinically, AEN is relevant to metabolic dysfunction-associated steatohepatitis (MASLD), where it functions downstream of p53 in a persistent DNA damage response pathway that promotes hepatocyte apoptosis, contributing to disease pathogenesis even after dietary intervention 3. These findings identify AEN as a critical node linking p53-dependent DNA damage surveillance to both apoptotic and innate immune responses.

Sources cited
1
AEN is an ionizing radiation-induced exonuclease with DNA-cleaving activity that enhances apoptosis by colocalizing with apoptotic nucleases and requires intact exonuclease domain for function
PMID: 16171785
2
AEN suppresses viral replication through induction of type I interferon and interferon-stimulated genes independent of its exonuclease activity
PMID: 38251332
3
P53 transcriptionally activates AEN expression in the liver, and the P53-AEN-apoptosis axis shows persistent upregulation in metabolic dysfunction-associated steatohepatitis
PMID: 39280071
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
hyperthyroidismOpen Targets
0.29Weak
systemic lupus erythematosusOpen Targets
0.28Weak
diverticular diseaseOpen Targets
0.27Weak
pathological myopiaOpen Targets
0.23Weak
complex regional pain syndromeOpen Targets
0.06Suggestive
nontoxic goiterOpen Targets
0.03Suggestive
cancerOpen Targets
0.02Suggestive
respiratory failureOpen Targets
0.02Suggestive
contractureOpen Targets
0.02Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.02Suggestive
infectionOpen Targets
0.01Suggestive
rhabdomyosarcomaOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
multiple myelomaOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
Wilson diseaseOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
metastatic malignant neoplasmOpen Targets
0.00Suggestive
radiation injuryOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
AAMPProtein interaction78%ISG20L2Shared pathway50%REXO4Shared pathway29%LZICShared pathway25%RMP24Shared pathway25%TRMT2BShared pathway25%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
72%
Lung
71%
Ovary
51%
Heart
24%
Brain
18%
Gene Interaction Network
Click a node to explore
AENAAMPISG20L2REXO4LZICRMP24TRMT2B
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8WTP8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.67LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.17 [0.83–1.67]
RankingsWhere AEN stands among ~20K protein-coding genes
  • #13,134of 20,598
    Most Researched24
  • #15,969of 17,882
    Most Constrained (LOEUF)1.67
Genes detectedAEN
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Fecal Microbiota Transplantation Versus Vancomycin for Primary
PMID: 40523286
Ann Intern Med · 2025
1.00
2
Proteomics, Human Environmental Exposure, and Cardiometabolic Risk.
PMID: 38662804
Circ Res · 2024
0.90
3
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).
PMID: 26799652
Autophagy · 2016
0.80
4
CT or Invasive Coronary Angiography in Stable Chest Pain.
PMID: 35240010
N Engl J Med · 2022
0.70
5
Black esophagus: acute esophageal necrosis syndrome.
PMID: 20614476
World J Gastroenterol · 2010
0.60