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GeneE
26 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.
DDX17
DEAD-box helicase 17
Chromosome 22 Β· 22q13.1
NCBI Gene: 10521Ensembl: ENSG00000100201.23HGNC: HGNC:2740UniProt: A0A5H1ZRQ2
402PubMed Papers
20Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
RESEARCH IMPACT
Highly StudiedTrending
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
transcription coactivator activitynucleusepithelial to mesenchymal transitionregulation of transcription by RNA polymerase IIneurodegenerative diseaseNeurodevelopmental disorderIntellectual disabilitylysosomal storage disease
✦AI Summary

DDX17 is a multifunctional DEAD-box RNA helicase with both catalytic and scaffolding roles across diverse cellular processes. As an ATP-dependent helicase, DDX17 unwinds RNA and modulates RNA structures to regulate alternative splicing of AC-rich exons, including CD44 transcripts, and influences splicing of steroid hormone signaling mediators 123. DDX17 binds pri-microRNAs via specific consensus sequences and is required for processing subsets of microRNAs including miR-21 and miR-125b1 45. Beyond RNA processing, DDX17 functions as a context-dependent transcriptional coactivator or corepressor, synergizing with TP53 for MDM2 activation and cooperating with CTNNB1 to activate MYC and other oncogenic targets 67. DDX17 also mediates estrogen and testosterone signaling pathways through both helicase-dependent splicing and helicase-independent transcriptional mechanisms 83. In immunity, DDX17 restricts bunyavirus infection in an interferon-independent manner while promoting antiviral mRNA degradation 9. Clinically, DDX17 dysregulation associates with multiple disease states: overexpression promotes hepatocellular carcinoma metastasis via PXN-AS1 splicing and CXCL8 transactivation 1011, while de novo variants cause neurodevelopmental disorders with intellectual disability and motor delay 12. DDX17 downregulation occurs in heart failure but protects cardiac function through BCL6-DRP1-mediated mitochondrial homeostasis 13, and functions as an HBV restriction factor 14. These multifaceted roles underscore DDX17 as a critical regulator of gene expression with significant therapeutic potential.

Sources cited
1
In immunity, DDX17 restricts bunyavirus infection in an interferon-independent manner while promoting antiviral mRNA degradation .
PMID: 25126784
2
Clinically, DDX17 dysregulation associates with multiple disease states: overexpression promotes hepatocellular carcinoma metastasis via PXN-AS1 splicing and CXCL8 transactivation , , while de novo variants cause neurodevelopmental disorders with intellectual disability and motor delay .
PMID: 39405200
3
DDX17 downregulation occurs in heart failure but protects cardiac function through BCL6-DRP1-mediated mitochondrial homeostasis , and functions as an HBV restriction factor .
PMID: 38782919
4
DDX17 downregulation occurs in heart failure but protects cardiac function through BCL6-DRP1-mediated mitochondrial homeostasis , and functions as an HBV restriction factor .
PMID: 38782119
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.55Moderate
Neurodevelopmental disorderOpen Targets
0.46Moderate
Intellectual disabilityOpen Targets
0.37Weak
lysosomal storage diseaseOpen Targets
0.37Weak
CholecystitisOpen Targets
0.25Weak
intellectual developmental disorder, autosomal dominant 73Open Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Suggestive
atrial fibrillationOpen Targets
0.09Suggestive
posterior cortical atrophyOpen Targets
0.09Suggestive
lung adenocarcinomaOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
non-alcoholic steatohepatitisOpen Targets
0.08Suggestive
heart failureOpen Targets
0.08Suggestive
cholelithiasisOpen Targets
0.05Suggestive
Alzheimer diseaseOpen Targets
0.05Suggestive
infectionOpen Targets
0.04Suggestive
metabolic syndromeOpen Targets
0.04Suggestive
hypothyroidismOpen Targets
0.04Suggestive
Pathogenic Variants4
NM_006386.5(DDX17):c.416del (p.Pro139fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 139
NM_006386.5(DDX17):c.1567A>G (p.Thr523Ala)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 523
NM_006386.5(DDX17):c.1133A>G (p.Asn378Ser)Likely pathogenic
Neurodevelopmental disorder
β˜…β˜†β˜†β˜†2025β†’ Residue 378
NM_006386.5(DDX17):c.738+1G>APathogenic
not provided
β˜…β˜†β˜†β˜†2025
View on ClinVar β†—
Related Genes
SF3B1Protein interaction100%DROSHAProtein interaction100%TP53Protein interaction100%DHX36Protein interaction100%DDX3XProtein interaction99%ESR1Protein interaction99%
Tissue Expression6 tissues
Ovary
100%
Lung
63%
Liver
39%
Heart
36%
Bone Marrow
26%
Brain
16%
Gene Interaction Network
Click a node to explore
DDX17SF3B1DROSHATP53DHX36DDX3XESR1
PROTEIN STRUCTURE
Preparing viewer…
PDB6UV3 Β· 1.60 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.25Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.15 [0.09–0.25]
RankingsWhere DDX17 stands among ~20K protein-coding genes
  • #721of 20,598
    Most Researched402 Β· top 5%
  • #3,673of 5,498
    Most Pathogenic Variants4
  • #780of 17,882
    Most Constrained (LOEUF)0.25 Β· top 5%
Genes detectedDDX17
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Helicases in R-loop Formation and Resolution.
PMID: 37778731
J Biol Chem Β· 2023
1.00
2
DEAD-box helicase 17 (DDX17) protects cardiac function by promoting mitochondrial homeostasis in heart failure.
PMID: 38782919
Signal Transduct Target Ther Β· 2024
0.90
3
Lactylome Analysis Unveils Lactylation-Dependent Mechanisms of Stemness Remodeling in the Liver Cancer Stem Cells.
PMID: 39099416
Adv Sci (Weinh) Β· 2024
0.80
4
The RNA helicases DDX5 and DDX17 facilitate neural differentiation of human pluripotent stem cells NTERA2.
PMID: 35007564
Life Sci Β· 2022
0.72
5
Helicases DDX5 and DDX17 promote heterogeneity in HBV transcription termination in infected human hepatocytes.
PMID: 38782119
J Hepatol Β· 2024
0.70