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GeneE
27 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DDX41
DEAD-box helicase 41
Chromosome 5 Β· 5q35.3
NCBI Gene: 51428Ensembl: ENSG00000183258.13HGNC: HGNC:18674UniProt: B3KRK2
179PubMed Papers
21Diseases
0Drugs
117Pathogenic Variants
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
spliceosomal complexmRNA splicing, via spliceosomecell population proliferationcell differentiationDDX41-related hematologic malignancy predisposition syndromeacute myeloid leukemiamyelodysplastic syndromerefractory anemia with excess blasts
✦AI Summary

DDX41 is a multifunctional DEAD-box helicase that plays critical roles in innate immunity and hematopoietic homeostasis. The protein functions as a DNA sensor in the cGAS-STING pathway, utilizing ATP-dependent DNA-unwinding and ATP-independent strand-annealing activities to regulate dsDNA homeostasis and activate type I interferon responses upon DNA virus infection 1. DDX41 also participates in pre-mRNA splicing, RNA processing, and ribosome biogenesis 2. Germline DDX41 variants represent the most common cause of inherited predisposition to adult myeloid neoplasms, particularly myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) 34. These pathogenic variants confer negligible risk until age 40, but risk rapidly increases to 49% by age 90, with male predominance 5. DDX41-mutated myeloid neoplasms constitute a distinct clinical entity characterized by favorable outcomes, unique comutation patterns, and resistance to typically poor prognostic factors like TP53 mutations 56. Patients show excellent treatment responses, with overall survival of 49-71 months, and particularly benefit from venetoclax-based therapies 6. The disease demonstrates biallelic inactivation in 50% of germline carriers through acquisition of somatic DDX41 mutations 2.

Sources cited
1
DDX41 functions in cGAS-STING pathway with ATP-dependent DNA-unwinding and ATP-independent strand-annealing activities
PMID: 35613581
2
DDX41 participates in pre-mRNA splicing and RNA processing, and shows biallelic inactivation in 50% of germline carriers
PMID: 25920683
3
Germline DDX41 variants are common cause of MDS/AML with 12.3-fold increased odds ratio
PMID: 37506341
4
DDX41 variants are the most common mutations predisposing to adult AML/MDS
PMID: 35671390
5
DDX41 variants show age-dependent penetrance with 49% risk by age 90 and male predominance, defining unique MN subtype
PMID: 36322930
6
DDX41-mutated patients show favorable outcomes with 49-71 month survival and excellent venetoclax response
PMID: 37665752
Disease Associationsβ“˜21
DDX41-related hematologic malignancy predisposition syndromeOpen Targets
0.80Strong
acute myeloid leukemiaOpen Targets
0.70Strong
myelodysplastic syndromeOpen Targets
0.68Moderate
refractory anemia with excess blastsOpen Targets
0.58Moderate
myeloid leukemiaOpen Targets
0.56Moderate
genetic disorderOpen Targets
0.55Moderate
neurodegenerative diseaseOpen Targets
0.51Moderate
adult acute myeloid leukemiaOpen Targets
0.49Moderate
chronic myelogenous leukemiaOpen Targets
0.46Moderate
Kostmann syndromeOpen Targets
0.46Moderate
MyelodysplasiaOpen Targets
0.45Moderate
Bone marrow hypocellularityOpen Targets
0.37Weak
focal segmental glomerulosclerosis 9Open Targets
0.34Weak
inherited acute myeloid leukemiaOpen Targets
0.34Weak
Absence of circulating granulocytesOpen Targets
0.31Weak
hematologic diseaseOpen Targets
0.29Weak
aplastic anemiaOpen Targets
0.29Weak
neoplasmOpen Targets
0.26Weak
acquired aplastic anemiaOpen Targets
0.23Weak
hematopoietic and lymphoid cell neoplasmOpen Targets
0.21Weak
Myeloproliferative/lymphoproliferative neoplasms, familialUniProt
Pathogenic Variants117
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer)Pathogenic
Acute myeloid leukemia|DDX41-related hematologic malignancy predisposition syndrome|not provided|DDX41-related disorder|Inborn genetic diseases
β˜…β˜…β˜†β˜†2026β†’ Residue 140
NM_016222.4(DDX41):c.3G>A (p.Met1Ile)Pathogenic
DDX41-related hematologic malignancy predisposition syndrome|not provided|Myelodysplasia|Bone marrow hypocellularity|DDX41-related disorder|Inborn genetic diseases
β˜…β˜…β˜†β˜†2026β†’ Residue 1
NM_016222.4(DDX41):c.931C>T (p.Arg311Ter)Pathogenic
not provided|DDX41-related hematologic malignancy predisposition syndrome|Inherited acute myeloid leukemia|Inborn genetic diseases|Focal segmental glomerulosclerosis 9
β˜…β˜…β˜†β˜†2026β†’ Residue 311
NM_016222.4(DDX41):c.142C>T (p.Gln48Ter)Pathogenic
Acute myeloid leukemia|not provided|DDX41-related hematologic malignancy predisposition syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2026β†’ Residue 48
NM_016222.4(DDX41):c.946_947del (p.Met316fs)Pathogenic
not provided|DDX41-related hematologic malignancy predisposition syndrome|DDX41-related disorder|Inborn genetic diseases
β˜…β˜…β˜†β˜†2026β†’ Residue 316
NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs)Pathogenic
Acute myeloid leukemia|DDX41-related hematologic malignancy predisposition syndrome|not provided|DDX41-related disorder|Inborn genetic diseases
β˜…β˜…β˜†β˜†2026β†’ Residue 529
NM_016222.4(DDX41):c.430del (p.Thr144fs)Pathogenic
Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 144
NM_016222.4(DDX41):c.1394del (p.Gly465fs)Pathogenic
not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 465
NM_016222.4(DDX41):c.1480_1496dup (p.Ala500fs)Pathogenic
Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 500
NM_016222.4(DDX41):c.108T>A (p.Tyr36Ter)Likely pathogenic
DDX41-related hematologic malignancy predisposition syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 36
NM_016222.4(DDX41):c.305_306del (p.Lys102fs)Pathogenic
not provided|DDX41-related hematologic malignancy predisposition syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 102
NM_016222.4(DDX41):c.121C>T (p.Gln41Ter)Pathogenic
not provided|DDX41-related hematologic malignancy predisposition syndrome|DDX41-related disorder|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 41
NM_016222.4(DDX41):c.323del (p.Lys108fs)Pathogenic
DDX41-related hematologic malignancy predisposition syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 108
NM_016222.4(DDX41):c.244C>T (p.Gln82Ter)Pathogenic
Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 82
NM_016222.4(DDX41):c.1301del (p.Pro434fs)Pathogenic
DDX41-related hematologic malignancy predisposition syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 434
NM_016222.4(DDX41):c.1496del (p.Pro499fs)Pathogenic
DDX41-related hematologic malignancy predisposition syndrome|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 499
NM_016222.4(DDX41):c.268C>T (p.Gln90Ter)Pathogenic
not provided|Inborn genetic diseases|DDX41-related hematologic malignancy predisposition syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 90
NM_016222.4(DDX41):c.27+1G>ALikely pathogenic
not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025
NM_016222.4(DDX41):c.804del (p.Glu268fs)Pathogenic
not provided|Inborn genetic diseases|DDX41-related hematologic malignancy predisposition syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 268
NM_016222.4(DDX41):c.1105C>T (p.Arg369Ter)Pathogenic
not provided|Inborn genetic diseases|DDX41-related hematologic malignancy predisposition syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 369
View on ClinVar β†—
Related Genes
CDC40Protein interaction100%STING1Protein interaction100%MAVSProtein interaction100%DHX38Protein interaction100%PPIL1Protein interaction100%SLU7Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
47%
Liver
47%
Lung
45%
Brain
40%
Heart
27%
Gene Interaction Network
Click a node to explore
DDX41CDC40STING1MAVSDHX38PPIL1SLU7
PROTEIN STRUCTURE
Preparing viewer…
PDB5GVR Β· 1.50 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.77LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.61 [0.48–0.77]
RankingsWhere DDX41 stands among ~20K protein-coding genes
  • #2,430of 20,598
    Most Researched179 Β· top quartile
  • #663of 5,498
    Most Pathogenic Variants117 Β· top quartile
  • #6,205of 17,882
    Most Constrained (LOEUF)0.77
Genes detectedDDX41
Sources retrieved27 papers
Response timeβ€”
πŸ“„ Sources
27β–Ό
1
Prevalence and significance of DDX41 gene variants in the general population.
PMID: 37506341
Blood Β· 2023
1.00
2
Germ line DDX41 mutations define a unique subtype of myeloid neoplasms.
PMID: 36322930
Blood Β· 2023
0.90
3
Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms.
PMID: 25920683
Cancer Cell Β· 2015
0.80
4
The International Consensus Classification (ICC) of hematologic neoplasms with germline predisposition, pediatric myelodysplastic syndrome, and juvenile myelomonocytic leukemia.
PMID: 36445482
Virchows Arch Β· 2023
0.72
5
DDX41 is required for cGAS-STING activation against DNA virus infection.
PMID: 35613581
Cell Rep Β· 2022
0.70