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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DDX4
DEAD-box helicase 4
Chromosome 5 · 5q11.2
NCBI Gene: 54514Ensembl: ENSG00000152670.19HGNC: HGNC:18700UniProt: Q9NQI0
46PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
flagellated sperm motilitycytoplasmmolecular condensate scaffold activityATP hydrolysis activitycartilage diseaseplacenta praeviavascular diseaseInsulin resistance
✦AI Summary

DDX4 is an ATP-dependent RNA helicase essential for male germline development and transposon silencing. During spermatogenesis, DDX4 functions in the piRNA biogenesis pathway to repress transposable elements and maintain germline integrity 1. Mechanistically, DDX4 promotes phase separation of membraneless organelles called germ granules through ATP binding, while ATP hydrolysis enables organelle turnover and RNA release 2. The protein's disordered domains form phase-separated bodies stabilized by electrostatic interactions sensitive to methylation and temperature 3. DDX4 specifically participates in secondary piRNA biogenesis through a ping-pong amplification cycle and processes PIWIL2-cleaved pre-piRNAs into mature piRNAs 4. Clinically, biallelic DDX4 variants cause human male infertility through impaired piRNA biogenesis and transposon de-silencing, with testicular phenotypes ranging from germ cell loss to abnormal sperm production 1. DDX4 expression serves as a specific germ cell marker to diagnose spermatogenic failure 5. Beyond normal germline function, DDX4 unexpectedly forms germ-granule-like structures in tumors, promoting cancer cell growth and invasiveness, associating with poor survival in head and neck carcinoma and prostate cancer 6.

Sources cited
1
DDX4 variants cause human male infertility through impaired piRNA biogenesis and transposon de-repression
PMID: 39122675
2
DDX4 regulates phase-separated organelles; ATP binding promotes phase separation while hydrolysis induces turnover
PMID: 31435012
3
DDX4 disordered domains form phase-separated germ granules stabilized by electrostatic interactions
PMID: 25747659
4
DDX4 functions in RNA-binding protein networks and piRNA processing in oocytes
PMID: 34108658
5
DDX4 is a specific germ cell marker for analyzing spermatogenic pathology and infertility
PMID: 34041004
6
DDX4 forms cytoplasmic granules in tumors and promotes cancer cell growth and invasiveness
PMID: 38963760
Disease Associationsⓘ20
cartilage diseaseOpen Targets
0.29Weak
placenta praeviaOpen Targets
0.29Weak
vascular diseaseOpen Targets
0.28Weak
Insulin resistanceOpen Targets
0.24Weak
hereditary ataxiaOpen Targets
0.12Weak
male infertilityOpen Targets
0.12Weak
azoospermiaOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure 65Open Targets
0.07Suggestive
spermatogenic failure 84Open Targets
0.07Suggestive
spermatogenic failure 93Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.07Suggestive
spermatogenic failure 56Open Targets
0.07Suggestive
spermatogenic failure 92Open Targets
0.07Suggestive
spermatogenic failure 94Open Targets
0.07Suggestive
spermatogenic failure 54Open Targets
0.07Suggestive
spermatogenic failure 40Open Targets
0.07Suggestive
spermatogenic failure 76Open Targets
0.07Suggestive
spermatogenic failure 80Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DAZLProtein interaction92%SYCP3Protein interaction92%ASZ1Protein interaction92%RANBP9Protein interaction91%STRA8Protein interaction85%TOP1Protein interaction84%
Tissue Expression6 tissues
Brain
100%
Liver
29%
Bone Marrow
19%
Ovary
19%
Lung
0%
Heart
0%
Gene Interaction Network
Click a node to explore
DDX4DAZLSYCP3ASZ1RANBP9STRA8TOP1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NQI0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.34Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.21 [0.13–0.34]
RankingsWhere DDX4 stands among ~20K protein-coding genes
  • #9,317of 20,598
    Most Researched46
  • #1,469of 17,882
    Most Constrained (LOEUF)0.34 · top 10%
Genes detectedDDX4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
DEAD-box ATPases are global regulators of phase-separated organelles.
PMID: 31435012
Nature · 2019
1.00
2
Phase transition of a disordered nuage protein generates environmentally responsive membraneless organelles.
PMID: 25747659
Mol Cell · 2015
0.90
3
Single-cell analysis of human ovarian cortex identifies distinct cell populations but no oogonial stem cells.
PMID: 32123174
Nat Commun · 2020
0.80
4
Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility.
PMID: 39122675
Nat Commun · 2024
0.70
5
Germline-specific RNA helicase DDX4 forms cytoplasmic granules in cancer cells and promotes tumor growth.
PMID: 38963760
Cell Rep · 2024
0.60