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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DDX20
DEAD-box helicase 20
Chromosome 1 · 1p13.2
NCBI Gene: 11218Ensembl: ENSG00000064703.14HGNC: HGNC:2743UniProt: Q9H4N4
184PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
SMN-Sm protein complexnegative regulation of transcription by RNA polymerase IIpositive regulation of apoptotic processcytosoltype 2 diabetes mellitusAbnormality of the skeletal systemmultisite chronic painhypertension
✦AI Summary

DDX20 is a multifunctional DEAD-box RNA helicase that serves critical roles in both RNA metabolism and transcriptional regulation 1. As a core component of the survival motor neuron (SMN) complex, DDX20 is essential for small nuclear ribonucleoprotein (snRNP) biogenesis and pre-mRNA splicing 1. The protein functions as a translational regulator by controlling mRNA translation through interactions with translational machinery components, particularly important for cell cycle-related genes during spermatogenesis 2. DDX20 also acts as a transcriptional regulator, interacting with transcription factors and affecting gene expression through pathways including NF-κB and p53 signaling 13. In innate immunity, DDX20 positively regulates the interferon pathway by facilitating TBK1-IRF3 interactions, leading to enhanced IFN-β production and antiviral gene expression 4. The protein's dysregulation is associated with various diseases, including its upregulation in hepatocellular carcinoma correlating with poor prognosis 5, and its role in osteoarthritis through NF-κB pathway activation 3. DDX20's multifunctional nature extends beyond traditional RNA helicase activities, as some cellular functions occur independently of its RNA unwinding capability 1.

Sources cited
1
DDX20 is a multifunctional DEAD-box RNA helicase involved in SMN complex and snRNP biogenesis
PMID: 29523774
2
DDX20 functions as a translational regulator controlling cell cycle-related gene translation during spermatogenesis
PMID: 38657611
3
DDX20 is involved in osteoarthritis through NF-κB pathway activation
PMID: 34052737
4
DDX20 positively regulates interferon pathway by facilitating TBK1-IRF3 interactions for antiviral response
PMID: 38552910
5
DDX20 upregulation in hepatocellular carcinoma correlates with poor prognosis
PMID: 36246406
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.40Moderate
Abnormality of the skeletal systemOpen Targets
0.38Weak
multisite chronic painOpen Targets
0.31Weak
hypertensionOpen Targets
0.28Weak
VertigoOpen Targets
0.27Weak
essential hypertensionOpen Targets
0.26Weak
neurodegenerative diseaseOpen Targets
0.12Weak
amyotrophic lateral sclerosisOpen Targets
0.12Weak
atrial fibrillationOpen Targets
0.10Weak
atrial flutterOpen Targets
0.09Suggestive
primary ovarian insufficiencyOpen Targets
0.08Suggestive
response to radiationOpen Targets
0.08Suggestive
prostate carcinomaOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
posterior cortical atrophyOpen Targets
0.07Suggestive
46,XX gonadal dysgenesisOpen Targets
0.07Suggestive
Kallmann syndromeOpen Targets
0.06Suggestive
hepatocellular carcinomaOpen Targets
0.06Suggestive
liver cancerOpen Targets
0.06Suggestive
Familial hyperprolactinemiaOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SNRPGProtein interaction100%SNRPD1Protein interaction100%SNRPD2Protein interaction100%SNRPFProtein interaction100%SNRNP70Protein interaction100%SNRPBProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
43%
Heart
38%
Lung
36%
Brain
31%
Liver
28%
Gene Interaction Network
Click a node to explore
DDX20SNRPGSNRPD1SNRPD2SNRPFSNRNP70SNRPB
PROTEIN STRUCTURE
Preparing viewer…
PDB2OXC · 1.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.96LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.78 [0.63–0.96]
RankingsWhere DDX20 stands among ~20K protein-coding genes
  • #2,343of 20,598
    Most Researched184 · top quartile
  • #9,128of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedDDX20
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
DDX20 is required for cell-cycle reentry of prospermatogonia and establishment of spermatogonial stem cell pool during testicular development in mice.
PMID: 38657611
Dev Cell · 2024
1.00
2
DDX20: A Multifunctional Complex Protein.
PMID: 37894677
Molecules · 2023
0.90
3
A Macrophage Differentiation-Mediated Gene: DDX20 as a Molecular Biomarker Encompassing the Tumor Microenvironment, Disease Staging, and Prognoses in Hepatocellular Carcinoma.
PMID: 36246406
Oxid Med Cell Longev · 2022
0.80
4
The Ddx20/DP103 dead box protein represses transcriptional activation by Egr2/Krox-20.
PMID: 14699164
J Biol Chem · 2004
0.72
5
Human bone mesenchymal stem cells-derived exosomal miRNA-361-5p alleviates osteoarthritis by downregulating DDX20 and inactivating the NF-κB signaling pathway.
PMID: 34052737
Bioorg Chem · 2021
0.70