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GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DDX46
DEAD-box helicase 46
Chromosome 5 · 5q31.1
NCBI Gene: 9879Ensembl: ENSG00000145833.16HGNC: HGNC:18681UniProt: A0A0C4DG89
159PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleusprotein bindingnuclear speckU2-type spliceosomal complexneurodegenerative diseasedengue diseaseHypercholesterolemialung adenocarcinoma
✦AI Summary

DDX46 (DEAD-box helicase 46) is a RNA helicase that serves dual roles in pre-mRNA splicing and immune regulation. As a component of the 17S U2 small nuclear ribonucleoprotein (snRNP) complex, DDX46 is essential for spliceosome assembly and branch site recognition during pre-mRNA splicing 1. The protein anchors to SF3B1 within the U2 snRNP complex, where it functions mutually exclusively with DDX42 in spliceosome assembly 1. Beyond splicing, DDX46 plays a critical regulatory role in innate immunity by binding to antiviral transcripts (Mavs, Traf3, Traf6) via conserved CCGGUU elements and recruiting ALKBH5 to remove N6-methyladenosine (m6A) modifications, thereby retaining these transcripts in the nucleus and inhibiting interferon production 2. Recent studies demonstrate DDX46's involvement in B-cell receptor signaling through the ALKBH5/treRNA1/DDX46 axis, which regulates m6A demethylation and transcript processing 3. Clinically, DDX46 is overexpressed in multiple cancers including colorectal, breast, and osteosarcoma, where its knockdown inhibits proliferation, invasion, and tumor growth 456. Additionally, DDX46 contributes to temozolomide resistance in glioblastoma through CHK1-mediated phosphorylation and subsequent RNA structural remodeling 7.

Sources cited
1
DDX46 is a component of the 17S U2 snRNP complex essential for spliceosome assembly and functions mutually exclusively with DDX42
PMID: 36797247
2
DDX46 inhibits innate immunity by binding antiviral transcripts and recruiting ALKBH5 to remove m6A modifications, retaining transcripts in the nucleus
PMID: 28846086
3
DDX46 participates in the ALKBH5/treRNA1/DDX46 axis regulating B-cell receptor signaling through m6A demethylation
PMID: 39987653
4
DDX46 is overexpressed in colorectal cancer and its knockdown inhibits cell proliferation and induces apoptosis
PMID: 25680556
5
DDX46 is overexpressed in breast cancer tissues and its downregulation inhibits proliferation and invasiveness
PMID: 36200534
6
DDX46 knockdown inhibits osteosarcoma cell proliferation, migration, invasion, and tumor growth
PMID: 27697093
7
DDX46 phosphorylation by CHK1 contributes to temozolomide resistance in glioblastoma through RNA structural remodeling
PMID: 39356744
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
dengue diseaseOpen Targets
0.37Weak
HypercholesterolemiaOpen Targets
0.26Weak
lung adenocarcinomaOpen Targets
0.08Suggestive
hemoglobin D diseaseOpen Targets
0.06Suggestive
osteosarcomaOpen Targets
0.06Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.06Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.06Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.06Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.06Suggestive
dominant beta-thalassemiaOpen Targets
0.05Suggestive
hemoglobin H diseaseOpen Targets
0.05Suggestive
delta-beta-thalassemiaOpen Targets
0.05Suggestive
hemoglobin E diseaseOpen Targets
0.05Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.04Suggestive
Alpha-thalassemia - myelodysplastic syndromeOpen Targets
0.04Suggestive
alpha-thalassemia-myelodysplastic syndromeOpen Targets
0.04Suggestive
hemolytic anemia due to diphosphoglycerate mutase deficiencyOpen Targets
0.04Suggestive
beta-thalassemia-X-linked thrombocytopenia syndromeOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RBMX2Shared pathway100%DHX15Protein interaction100%MFAP1Protein interaction100%SF1Protein interaction100%SF3A2Protein interaction100%SF3B3Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
72%
Lung
71%
Ovary
67%
Liver
59%
Heart
57%
Gene Interaction Network
Click a node to explore
DDX46RBMX2DHX15MFAP1SF1SF3A2SF3B3
PROTEIN STRUCTURE
Preparing viewer…
PDB7Q3L · 2.30 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.29Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.21 [0.15–0.29]
RankingsWhere DDX46 stands among ~20K protein-coding genes
  • #2,826of 20,598
    Most Researched159 · top quartile
  • #1,077of 17,882
    Most Constrained (LOEUF)0.29 · top 10%
Genes detectedDDX46
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Mechanisms of the RNA helicases DDX42 and DDX46 in human U2 snRNP assembly.
PMID: 36797247
Nat Commun · 2023
1.00
2
Dynamic structural remodeling of LINC01956 enhances temozolomide resistance in
PMID: 39356744
Sci Transl Med · 2024
0.90
3
Lentiviral DDX46 knockdown inhibits growth and induces apoptosis in human colorectal cancer cells.
PMID: 25680556
Gene · 2015
0.80
4
The RNA helicase DDX46 inhibits innate immunity by entrapping m
PMID: 28846086
Nat Immunol · 2017
0.70
5
Transcriptomic Alterations in Spliceosome Components in Advanced Heart Failure: Status of Cardiac-Specific Alternative Splicing Factors.
PMID: 39273537
Int J Mol Sci · 2024
0.64