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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DDX39A
DExD-box helicase 39A
Chromosome 19 · 19p13.12
NCBI Gene: 10212Ensembl: ENSG00000123136.16HGNC: HGNC:17821UniProt: O00148
194PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmidentical protein bindingmRNA splicing, via spliceosomemRNA export from nucleusneoplasmbreast cancerhepatocellular carcinomamelanoma
✦AI Summary

DDX39A (DExD-box helicase 39A) is an RNA helicase that plays essential roles in RNA metabolism, particularly in mRNA export and splicing regulation 1. The protein functions as an ATP-dependent helicase that facilitates nuclear mRNA export to the cytoplasm and regulates alternative splicing patterns 1. DDX39A demonstrates functional redundancy with its paralog DDX39B but also exhibits substrate specificity, with certain pre-mRNAs requiring one paralog over the other based on their polypyrimidine tract characteristics 1. In genome stability maintenance, DDX39A resolves RNA-DNA hybrids at replication forks, balancing fork protection and processing by facilitating controlled DNA2-mediated resection and fork restart 23. The protein plays a complex role in innate immunity by negatively regulating type I interferon production through nuclear retention of antiviral transcripts, with this function modulated by SUMOylation 4. However, DDX39A also facilitates antitumor immunity by actively exporting nuclear retroelement transcripts that form cytosolic dsRNA to trigger viral mimicry responses 5. In cancer contexts, DDX39A expression is dysregulated and contributes to oncogenic programs, with splicing variants promoting tumor progression through pathways involving MYC signaling and integrin regulation 67.

Sources cited
1
DDX39A plays essential roles in mRNA export and alternative splicing with functional redundancy but also specificity compared to DDX39B
PMID: 38801080
2
DDX39A resolves RNA-DNA hybrids at replication forks to balance fork protection and processing for genome stability
PMID: 39706185
3
DDX39A facilitates controlled DNA2-mediated stalled fork processing and restart by unwinding RNA-DNA hybrid structures
PMID: 39706186
4
DDX39A negatively regulates type I interferon production by trapping antiviral transcripts in the nucleus, with function modulated by SUMOylation
PMID: 32393512
5
DDX39A actively exports nuclear retroelement transcripts to facilitate viral mimicry response and antitumor immunity
PMID: 40203080
6
DDX39A splicing variants contribute to oncogenic MYC signaling programs in hepatocellular carcinoma
PMID: 39018261
7
DDX39A promotes ovarian cancer progression through regulation of integrin subunit expression
PMID: 40216968
Disease Associationsⓘ20
neoplasmOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
melanomaOpen Targets
0.08Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.07Suggestive
Alzheimer diseaseOpen Targets
0.07Suggestive
cancerOpen Targets
0.04Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.03Suggestive
adrenal cortex carcinomaOpen Targets
0.03Suggestive
Uveal MelanomaOpen Targets
0.03Suggestive
osteosarcomaOpen Targets
0.03Suggestive
rheumatoid arthritisOpen Targets
0.02Suggestive
gastric cancerOpen Targets
0.02Suggestive
Abnormal sperm morphologyOpen Targets
0.02Suggestive
ovarian carcinomaOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
posterior cortical atrophyOpen Targets
0.02Suggestive
urolithiasisOpen Targets
0.02Suggestive
ovarian cancerOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.02Suggestive
Pathogenic Variants1
NM_005804.4(DDX39A):c.677T>A (p.Phe226Tyr)Likely pathogenic
not provided
★☆☆☆→ Residue 226
View on ClinVar ↗
Related Genes
SARNPProtein interaction99%NXF1Protein interaction98%CHTOPProtein interaction96%POLDIP3Protein interaction95%THOC2Protein interaction91%THOC7Protein interaction89%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
25%
Brain
17%
Liver
16%
Ovary
12%
Heart
9%
Gene Interaction Network
Click a node to explore
DDX39ASARNPNXF1CHTOPPOLDIP3THOC2THOC7
PROTEIN STRUCTURE
Preparing viewer…
PDB8IJU · 1.82 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.46Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.29 [0.18–0.46]
RankingsWhere DDX39A stands among ~20K protein-coding genes
  • #2,195of 20,598
    Most Researched194 · top quartile
  • #4,728of 5,498
    Most Pathogenic Variants1
  • #2,550of 17,882
    Most Constrained (LOEUF)0.46 · top quartile
Genes detectedDDX39A
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Dynamic control of RNA-DNA hybrid formation orchestrates DNA2 activation at stalled forks by RNAPII and DDX39A.
PMID: 39706186
Mol Cell · 2025
1.00
2
DDX39A resolves replication fork-associated RNA-DNA hybrids to balance fork protection and cleavage for genomic stability maintenance.
PMID: 39706185
Mol Cell · 2025
0.90
3
The RNA helicase DDX39 contributes to the nuclear export of spliceosomal U snRNA by loading of PHAX onto RNA.
PMID: 39011894
Nucleic Acids Res · 2024
0.80
4
Intron Retention of DDX39A Driven by SNRPD2 is a Crucial Splicing Axis for Oncogenic MYC/Spliceosome Program in Hepatocellular Carcinoma.
PMID: 39018261
Adv Sci (Weinh) · 2024
0.80
5
Parsing the roles of DExD-box proteins DDX39A and DDX39B in alternative RNA splicing.
PMID: 38801080
Nucleic Acids Res · 2024
0.70