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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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DDX11
DEAD/H-box helicase 11
Chromosome 12 Β· 12p11.21
NCBI Gene: 1663Ensembl: ENSG00000013573.18HGNC: HGNC:2736UniProt: Q2NKM7
75PubMed Papers
21Diseases
0Drugs
47Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairTranscription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
helicase activitynucleuspositive regulation of double-strand break repairchromatinWarsaw breakage syndromegenetic disorderneurodegenerative diseasehepatocellular carcinoma
✦AI Summary

DDX11 is a DEAD/H-box DNA helicase that functions as a critical regulator of genome stability through multiple interconnected pathways. Biochemically, DDX11 possesses ATP-dependent helicase activity with specific capacity to unwind G-quadruplex (G4) DNA structures 1, which protects against G4-induced double-stranded breaks at DNA replication forks 1. Mechanistically, DDX11 cooperates with the cohesin complex to establish and maintain sister chr12 cohesion during DNA replication 23, acting at the interface of DNA replication, repair, and recombination 2. Additionally, DDX11 functions as a novel co-sensor in innate immunity by promoting RIG-I-MAVS-mediated interferon signaling through nucleic acid binding and protein-protein interactions 4. Clinically, bi-allelic DDX11 mutations cause Warsaw Breakage Syndrome (WABS), a cohesinopathy characterized by sister chr12 cohesion defects, growth retardation, microcephaly, intellectual disability, and cardiac anomalies 563. WABS cells demonstrate sensitivity to topoisomerase and PARP inhibitors with reduced replication fork speed 1. In cancer, DDX11 shows emerging oncogenic roles 6, with high expression correlating with poor hepatocellular carcinoma prognosis and PARP inhibitor resistance through enhanced homologous recombination repair 7.

Sources cited
1
DDX11 helicase domain unwinds G-quadruplex structures to prevent G4-induced DNA breaks and supports sister chromatid cohesion
PMID: 32855419
2
DDX11 is an iron-sulfur cluster DNA helicase involved in sister chromatid cohesion and DNA repair, operating at the interface of replication/repair/recombination
PMID: 30469382
3
WABS is caused by biallelic DDX11 mutations and presents with sister chromatid cohesion defects, growth retardation, microcephaly, and hearing loss
PMID: 33669056
4
DDX11 mutations are associated with Warsaw Breakage Syndrome, a cohesinopathy with developmental and cardiac manifestations
PMID: 31516082
5
DDX11 has emerging oncogenic roles in cancer development and progression, and is a potential pharmacological target for anti-cancer therapy
PMID: 33802088
6
DDX11 functions as a co-sensor in RIG-I-MAVS-mediated innate immune signaling to promote type I interferon production against viral infection
PMID: 39470258
7
High DDX11 levels enhance homologous recombination repair and PARP inhibitor resistance in hepatocellular carcinoma, with DDX11 mutations affecting ATM-mediated phosphorylation and RAD51 recruitment
PMID: 38007537
Disease Associationsβ“˜21
Warsaw breakage syndromeOpen Targets
0.80Strong
genetic disorderOpen Targets
0.42Moderate
neurodegenerative diseaseOpen Targets
0.37Weak
hepatocellular carcinomaOpen Targets
0.11Weak
microcephalyOpen Targets
0.11Weak
gliomaOpen Targets
0.10Weak
breast cancerOpen Targets
0.10Weak
renal cell carcinomaOpen Targets
0.09Suggestive
melanomaOpen Targets
0.08Suggestive
systemic lupus erythematosusOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.08Suggestive
AIDS dementiaOpen Targets
0.07Suggestive
cancerOpen Targets
0.06Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.06Suggestive
inflammatory bowel diseaseOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.05Suggestive
gastric cancerOpen Targets
0.04Suggestive
type 2 diabetes mellitusOpen Targets
0.04Suggestive
diabetes mellitusOpen Targets
0.04Suggestive
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10Open Targets
0.03Suggestive
Warsaw breakage syndromeUniProt
Pathogenic Variants47
NM_030653.4(DDX11):c.788G>A (p.Arg263Gln)Pathogenic
Warsaw breakage syndrome|Sarcoma|Glioma susceptibility 1|Cervical cancer
β˜…β˜…β˜†β˜†2026β†’ Residue 263
NM_030653.4(DDX11):c.1763-1G>CPathogenic
not provided|Warsaw breakage syndrome|DDX11-related condition|Clear cell carcinoma of kidney|Uterine carcinosarcoma|Sarcoma
β˜…β˜…β˜†β˜†2026
NM_030653.4(DDX11):c.1591C>T (p.Gln531Ter)Pathogenic
Warsaw breakage syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 531
NM_030653.4(DDX11):c.1947T>A (p.Cys649Ter)Pathogenic
Warsaw breakage syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 649
NM_030653.4(DDX11):c.1403dup (p.Ser469fs)Pathogenic
Warsaw breakage syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 469
NM_030653.4(DDX11):c.1949-1G>APathogenic
not provided|Warsaw breakage syndrome
β˜…β˜…β˜†β˜†2024
NM_030653.4(DDX11):c.418C>T (p.Arg140Ter)Likely pathogenic
Warsaw breakage syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 140
NM_030653.4(DDX11):c.2638dup (p.Ala880fs)Likely pathogenic
not provided|Warsaw breakage syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 880
NM_030653.4(DDX11):c.1672C>T (p.Arg558Ter)Pathogenic
Warsaw breakage syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 558
NM_030653.4(DDX11):c.792+1G>ALikely pathogenic
Warsaw breakage syndrome
β˜…β˜…β˜†β˜†2024
NM_030653.4(DDX11):c.2230C>T (p.Gln744Ter)Pathogenic
not provided|Warsaw breakage syndrome
β˜…β˜…β˜†β˜†2023β†’ Residue 744
NC_000012.12:g.31087936AG[1]Pathogenic
not provided
β˜…β˜†β˜†β˜†2026
NM_030653.4(DDX11):c.2047C>T (p.Gln683Ter)Pathogenic
Warsaw breakage syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 683
NM_030653.4(DDX11):c.442C>T (p.Gln148Ter)Pathogenic
Warsaw breakage syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 148
NM_030653.4(DDX11):c.1949-3C>TLikely pathogenic
Warsaw breakage syndrome
β˜…β˜†β˜†β˜†2025
NM_030653.4(DDX11):c.502_505del (p.Glu168fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 168
NM_030653.4(DDX11):c.2536+1G>ALikely pathogenic
Warsaw breakage syndrome
β˜…β˜†β˜†β˜†2024
NM_030653.4(DDX11):c.412_434dup (p.Gln146fs)Likely pathogenic
Warsaw breakage syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 146
NM_030653.4(DDX11):c.1399_1400del (p.Leu468fs)Likely pathogenic
Warsaw breakage syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 468
NM_030653.4(DDX11):c.394-2_394-1delLikely pathogenic
Warsaw breakage syndrome
β˜…β˜†β˜†β˜†2024
View on ClinVar β†—
Related Genes
DSCC1Protein interaction100%CHTF8Protein interaction100%WDHD1Protein interaction97%ESCO1Protein interaction96%SYMPKProtein interaction96%NIPBLProtein interaction95%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
83%
Liver
67%
Lung
54%
Brain
27%
Heart
14%
Gene Interaction Network
Click a node to explore
DDX11DSCC1CHTF8WDHD1ESCO1SYMPKNIPBL
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q2NKM7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.78LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.64 [0.53–0.78]
RankingsWhere DDX11 stands among ~20K protein-coding genes
  • #6,321of 20,598
    Most Researched75
  • #1,389of 5,498
    Most Pathogenic Variants47
  • #6,393of 17,882
    Most Constrained (LOEUF)0.78
Genes detectedDDX11
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The expanding phenotypes of cohesinopathies: one ring to rule them all!
PMID: 31516082
Cell Cycle Β· 2019
1.00
2
Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion.
PMID: 32855419
Nat Commun Β· 2020
0.90
3
LncRNA DDX11-AS1: a novel oncogene in human cancer.
PMID: 32772230
Hum Cell Β· 2020
0.80
4
The Genome Stability Maintenance DNA Helicase DDX11 and Its Role in Cancer.
PMID: 33802088
Genes (Basel) Β· 2021
0.70
5
Molecular and Cellular Functions of the Warsaw Breakage Syndrome DNA Helicase DDX11.
PMID: 30469382
Genes (Basel) Β· 2018
0.60