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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DDX18
DEAD-box helicase 18
Chromosome 2 · 2q14.1
NCBI Gene: 8886Ensembl: ENSG00000088205.14HGNC: HGNC:2741UniProt: Q8N254
185PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
membranenucleoluschromosomeprotein bindingalcohol drinkingbenign digestive system neoplasmsmoking initiationAlzheimer disease
✦AI Summary

DDX18 is an ATP-dependent RNA helicase with dual roles in RNA metabolism and pluripotency regulation. Mechanistically, DDX18 resolves R-loops at transcribed genes and DNA lesion sites through PARP-1-mediated recruitment 1, preventing replication defects and genome instability. Loss of DDX18 causes aberrant R-loop accumulation, impaired DNA repair foci formation, and γH2AX accumulation 1. In pluripotent cells, DDX18 safeguards ribosomal DNA by antagonizing PRC2-mediated H3K27me3 deposition, maintaining active rRNA transcription and ribosomal biogenesis essential for embryonic stem cell self-renewal 2. DDX18 coordinates nucleolus phase separation through NPM1 interaction, regulating centromere clustering and perinucleolar heterochromatin formation 3. Clinically, DDX18 is upregulated in multiple cancers with distinct mechanisms: in pancreatic cancer, it promotes STAT1-mediated PD-L1 expression driving immune escape 4; in esophageal cancer, YY1-induced DDX18 activates AKT/mTOR signaling to enhance EMT and proliferation 5; in head and neck cancer, ALKBH1-mediated DDX18 upregulation promotes cell proliferation 6. Early zebrafish studies identified DDX18 mutations in acute myeloid leukemia associated with p53-dependent cell-cycle arrest 7. Rare non-coding variants affecting DDX18 polyadenylation show disease associations 8.

Sources cited
1
DDX18 resolves R-loops via PARP-1 recruitment, preventing replication defects and genome instability
PMID: 35858569
2
DDX18 antagonizes PRC2 to prevent H3K27me3 deposition on rDNA, maintaining rRNA transcription in pluripotent cells
PMID: 31914400
3
DDX18 coordinates nucleolus phase separation and nuclear organization through NPM1 interaction to maintain pluripotency
PMID: 39738032
4
DDX18 upregulation in pancreatic cancer promotes STAT1-mediated PD-L1 expression and immune escape
PMID: 37620449
5
YY1-induced DDX18 modulates EMT and AKT/mTOR pathway in esophageal cancer progression
PMID: 40394670
6
ALKBH1-mediated DDX18 upregulation through 6mA demethylation promotes head and neck cancer cell proliferation
PMID: 36976498
7
DDX18 is essential for cell-cycle progression in hematopoietic cells; mutations identified in acute myeloid leukemia
PMID: 21653321
8
Rare non-coding variants affecting DDX18 alternative polyadenylation are associated with disease
PMID: 39819850
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.31Weak
benign digestive system neoplasmOpen Targets
0.27Weak
smoking initiationOpen Targets
0.22Weak
Alzheimer diseaseOpen Targets
0.20Weak
diabetes mellitusOpen Targets
0.19Weak
congenital anomaly of cardiovascular systemOpen Targets
0.18Weak
physical activityOpen Targets
0.18Weak
frozen shoulderOpen Targets
0.18Weak
influenza A (H1N1)Open Targets
0.17Weak
cardiovascular diseaseOpen Targets
0.17Weak
injuryOpen Targets
0.17Weak
Abruptio PlacentaeOpen Targets
0.10Weak
HypercholesterolemiaOpen Targets
0.10Suggestive
Isolated anophthalmia - microphthalmiaOpen Targets
0.08Suggestive
microphthalmiaOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
esophageal cancerOpen Targets
0.07Suggestive
nanophthalmiaOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UTP3Protein interaction100%ABT1Protein interaction100%DDX52Protein interaction99%GPATCH2Protein interaction99%GPATCH2LProtein interaction99%MPHOSPH10Protein interaction99%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
97%
Heart
94%
Ovary
88%
Lung
80%
Liver
68%
Gene Interaction Network
Click a node to explore
DDX18UTP3ABT1DDX52GPATCH2GPATCH2LMPHOSPH10
PROTEIN STRUCTURE
Preparing viewer…
PDB8FKV · 2.47 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.50Moderately Constrained
pLIⓘ
0.98Intolerant
Observed/Expected LoF0.35 [0.25–0.50]
RankingsWhere DDX18 stands among ~20K protein-coding genes
  • #2,325of 20,598
    Most Researched185 · top quartile
  • #2,947of 17,882
    Most Constrained (LOEUF)0.50 · top quartile
Genes detectedDDX18
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
DDX18 coordinates nucleolus phase separation and nuclear organization to control the pluripotency of human embryonic stem cells.
PMID: 39738032
Nat Commun · 2024
1.00
2
DDX18 prevents R-loop-induced DNA damage and genome instability via PARP-1.
PMID: 35858569
Cell Rep · 2022
0.90
3
DDX18 drives tumor immune escape through transcription-activated STAT1 expression in pancreatic cancer.
PMID: 37620449
Oncogene · 2023
0.80
4
YY1-induced DDX18 modulates EMT via the AKT/mTOR pathway in esophageal cancer: a novel therapeutic target.
PMID: 40394670
J Transl Med · 2025
0.70
5
DNA 6mA demethylase ALKBH1 regulates DDX18 expression to promote proliferation of human head and neck squamous cell carcinoma.
PMID: 36976498
Cell Oncol (Dordr) · 2023
0.60