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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DDX52
DExD-box helicase 52
Chromosome 17 · 17q12
NCBI Gene: 11056Ensembl: ENSG00000277594.2HGNC: HGNC:20038UniProt: B3KM65
115PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleolusmembraneRNA bindingmaturation of SSU-rRNAHydrocephalustype 2 diabetes mellitusdiabetes mellitusesophageal disease
✦AI Summary

DDX52 (DExD-box helicase 52) is an ATP-dependent RNA helicase essential for ribosome biogenesis and nucleolar function 1. The protein functions as both a nucleic acid helicase with 3'-5' polarity capable of unwinding DNA duplexes and DNA/RNA hybrids, and as a strand annealase requiring an N-terminal intrinsically disordered region 1. DDX52 may regulate cell cycle progression by controlling translation of TOP motif-containing mRNAs. In disease contexts, DDX52 demonstrates significant clinical relevance: elevated expression in lung adenocarcinoma correlates with advanced tumor stages and serves as an independent negative prognostic determinant 2. Similarly, DDX52 overexpression in melanoma tissues associates with shorter overall survival; knockdown suppresses cell proliferation and tumor growth by targeting c-Myc expression 3. During HIV-1 infection, miR-197-3p upregulates viral infectivity by suppressing DDX52, which normally negatively regulates the HIV-1 Vif protein 4. Additionally, DDX52 variants associate with bone mineral density in Chinese populations, with sex-specific effects 5. Loss of DDX52 impairs cell migration 1, suggesting roles in metastatic processes. DDX52 deletions in 17q12 microdeletion syndrome may contribute to renal abnormalities 6, though specific mechanisms remain unclear.

Sources cited
1
DDX52 is an ATP-dependent translocase with 3'-5' helicase activity, unwinds DNA duplexes and DNA/RNA hybrids, functions as a nucleic acid annealase with N-terminal intrinsically disordered region, and promotes cell migration
PMID: 41510705
2
DDX52 expression is elevated in lung adenocarcinoma tissues, correlates with advanced T/N stages and higher grading, serves as independent prognostic determinant for poor outcomes
PMID: 37833424
3
DDX52 is overexpressed in melanoma tissues associated with shorter overall survival; knockdown inhibits cell proliferation and tumor growth by suppressing c-Myc expression
PMID: 34233596
4
miR-197-3p upregulates HIV-1 virion infectivity by targeting DDX52; DDX52 negatively regulates HIV-1 Vif protein expression at proteasomal degradation level
PMID: 39826696
5
DDX52 variants (rs4795209 A>G) associate with bone mineral density in Chinese populations with sex-specific effects (males only)
PMID: 36228083
6
DDX52 is located in 17q12 region; 17q12 microdeletion encompassing DDX52 presents with bilateral hyperechogenic kidneys prenatally and mild renal abnormalities postnatally
PMID: 38216274
Disease Associationsⓘ20
HydrocephalusOpen Targets
0.26Weak
type 2 diabetes mellitusOpen Targets
0.23Weak
diabetes mellitusOpen Targets
0.23Weak
esophageal diseaseOpen Targets
0.18Weak
kidney diseaseOpen Targets
0.09Suggestive
Miyoshi myopathyOpen Targets
0.07Suggestive
posterior cortical atrophyOpen Targets
0.07Suggestive
lung adenocarcinomaOpen Targets
0.06Suggestive
HIV-1 infectionOpen Targets
0.06Suggestive
pseudohypoparathyroidism type 2Open Targets
0.04Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.04Suggestive
food allergyOpen Targets
0.03Suggestive
prostate carcinomaOpen Targets
0.03Suggestive
familial isolated hypoparathyroidism due to agenesis of parathyroid glandOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
gallstonesOpen Targets
0.03Suggestive
cholelithiasisOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
infectionOpen Targets
0.02Suggestive
type 1 diabetes mellitusOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SRFBP1Shared pathway100%PDCD11Protein interaction100%BMS1Protein interaction100%UTP11Protein interaction100%UTP20Protein interaction100%RRP7AProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
70%
Heart
57%
Liver
57%
Lung
50%
Ovary
46%
Gene Interaction Network
Click a node to explore
DDX52SRFBP1PDCD11BMS1UTP11UTP20RRP7A
PROTEIN STRUCTURE
Preparing viewer…
PDB3DKP · 2.10 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.89LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.70 [0.56–0.89]
RankingsWhere DDX52 stands among ~20K protein-coding genes
  • #4,110of 20,598
    Most Researched115 · top quartile
  • #7,954of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedDDX52
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
DDX52 gene expression in LUAD tissues indicates potential as a prognostic biomarker and therapeutic target.
PMID: 37833424
Sci Rep · 2023
1.00
2
Knockdown of DEAD-box RNA helicase 52 (DDX52) suppresses the proliferation of melanoma cells in vitro and of nude mouse xenografts by targeting c-Myc.
PMID: 34233596
Bioengineered · 2021
0.90
3
Human microRNA miR-197-3p positively regulates HIV-1 virion infectivity through its target DDX52 by stabilizing Vif protein expression.
PMID: 39826696
J Biol Chem · 2025
0.80
4
Prenatal diagnosis and perinatal findings of 17q12 microdeletion encompassing HNF1B in a fetus with bilateral hyperechogenic kidneys on fetal ultrasound and mild renal abnormality after birth, and a review of the literature of prenatal diagnosis of 17q12 microdeletion.
PMID: 38216274
Taiwan J Obstet Gynecol · 2024
0.70
5
Expression and alternative splicing of folate pathway genes in HapMap lymphoblastoid cell lines.
PMID: 19374514
Pharmacogenomics · 2009
0.60