HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DDX28
DEAD-box helicase 28
Chromosome 16 · 16q22.1
NCBI Gene: 55794Ensembl: ENSG00000182810.7HGNC: HGNC:17330UniProt: Q9NUL7
69PubMed Papers
16Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionRNA bindingnucleolusrRNA bindingAbnormality of the skeletal systemprimary biliary cirrhosisinterstitial lung diseasehypertension
✦AI Summary

DDX28 is a DEAD-box RNA helicase that plays an essential role in mitochondrial ribosome biogenesis, particularly in the assembly of the mitochondrial large ribosomal subunit (mt-LSU) 1. The protein resides in mitochondrial RNA granules and facilitates proper mt-LSU assembly through its RNA and Mg²⁺-dependent ATPase helicase activity, which maintains immature conformations of 16S rRNA domains during the late assembly phases 2. DDX28 directly interacts with 16S rRNA and mt-LSU components 13. Depletion of DDX28 impairs mitochondrial protein synthesis and oxidative phosphorylation complex assembly without affecting rRNA processing or mRNA stability 1. Beyond mitoribosome biogenesis, DDX28 functions as a negative regulator of hypoxia-inducible factor 2α (HIF-2α) and suppresses HIF-2α-directed eukaryotic initiation factor 4E2 (eIF4E2) translation under hypoxic conditions 4. In cancer cells with low endogenous DDX28, overexpression suppresses cell migration, spheroid growth, and invasion through alterations in cellular bioenergetics rather than HIF-2α transcriptional activity 5. Additionally, DDX28 has been identified as a hub gene and biomarker in preeclampsia risk prediction, with altered expression in placental dysfunction 6. These findings identify DDX28 as a dual-function protein linking mitochondrial metabolism to cancer biology and pregnancy pathology.

Sources cited
1
DDX28 is essential for mt-LSU biogenesis, resides in RNA granules, interacts with 16S rRNA, and its depletion impairs mitochondrial protein synthesis and oxidative phosphorylation complex assembly
PMID: 25683708
2
DDX28 is a helicase required for mitochondrial ribosome biogenesis and binds 16S rRNA within mitochondrial RNA granules
PMID: 25683715
3
DDX28 is an assembly factor in the 39S mt-LSU pre-ribosome that maintains immature 16S rRNA conformations
PMID: 34315873
4
DDX28 negatively regulates HIF-2α and suppresses HIF-2α-directed eIF4E2-mediated hypoxic translation; DDX28 is reduced in several cancers
PMID: 31907278
5
DDX28 overexpression suppresses cancer cell migration, spheroid growth, and invasion through altered mitochondrial respiration and glycolysis
PMID: 40560367
6
DDX28 is identified as a hub gene and predictive biomarker in preeclampsia with altered expression in placental dysfunction
PMID: 40552285
7
DDX28 is associated with colorectal cancer risk variants and is a mitochondrial protein involved in cellular metabolism and division
PMID: 22363440
Disease Associationsⓘ16
Abnormality of the skeletal systemOpen Targets
0.26Weak
primary biliary cirrhosisOpen Targets
0.04Suggestive
interstitial lung diseaseOpen Targets
0.03Suggestive
hypertensionOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
Abnormality of the gastrointestinal tractOpen Targets
0.02Suggestive
Chronic Obstructive AsthmaOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
gliomaOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
glioblastomaOpen Targets
0.00Suggestive
preeclampsiaOpen Targets
0.00Suggestive
colorectal neoplasmOpen Targets
0.00Suggestive
genetic disorderOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GTPBP6Shared pathway100%UTP3Protein interaction100%ERAL1Protein interaction96%TRUB2Protein interaction96%GTPBP8Protein interaction96%MRPL11Protein interaction95%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
61%
Liver
56%
Brain
40%
Lung
39%
Ovary
37%
Gene Interaction Network
Click a node to explore
DDX28GTPBP6UTP3ERAL1TRUB2GTPBP8MRPL11
PROTEIN STRUCTURE
Preparing viewer…
PDB7OI6 · 5.70 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.26LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.91 [0.67–1.26]
RankingsWhere DDX28 stands among ~20K protein-coding genes
  • #6,792of 20,598
    Most Researched69
  • #13,294of 17,882
    Most Constrained (LOEUF)1.26
Genes detectedDDX28
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The Human Mitochondrial DEAD-Box Protein DDX28 Resides in RNA Granules and Functions in Mitoribosome Assembly.
PMID: 25683708
Cell Rep · 2015
1.00
2
The DEAD-box RNA helicase DDX28 suppresses cell migration and 3D growth and invasion in MDA-MB-231 cells by altering bioenergetics.
PMID: 40560367
Mol Biol Cell · 2025
0.90
3
Explainable machine learning reveals ribosome biogenesis biomarkers in preeclampsia risk prediction.
PMID: 40552285
Front Immunol · 2025
0.80
4
A distinct assembly pathway of the human 39S late pre-mitoribosome.
PMID: 34315873
Nat Commun · 2021
0.70
5
Comprehensive Atlas of the Myelin Basic Protein Interaction Landscape.
PMID: 34827627
Biomolecules · 2021
0.60