DDX46
DEAD-box helicase 46
Gene Information Card
| Symbol | DDX46 |
|---|---|
| Full Name | DEAD-box helicase 46 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 9879 ncbi.nlm.nih.gov/gene/9879 |
| Ensembl ID | ENSG00000145833 |
| UniProt ID | Q7L014 |
| OMIM ID | 617848 |
| HGNC ID | 2740 |
| Aliases | PRP5, Prp5, FLJ25333, MGC131944 |
Description
DDX46 encodes a member of the DEAD-box family of RNA helicases, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD). This protein is a component of the spliceosome and is involved in pre-mRNA splicing, specifically in the unwinding of RNA duplexes during spliceosome assembly. DDX46 is essential for cell proliferation and is implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | DDX46 overexpression or mutation may alter splicing of oncogenes/tumor suppressors | COSMIC, ClinVar |
| Developmental disorders | Missense variants in DDX46 associated with intellectual disability and microcephaly | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 10.2 | Medium |
| Lymph node | 9.8 | Medium |
| Brain | 7.1 | Low |
| Liver | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.0 | High expression |
| HeLa | 11.5 | Medium expression |
| K562 | 9.2 | Medium expression |
| HepG2 | 6.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Lys412Glu) | Missense | <0.1% | Alters helicase activity; associated with developmental delay |
| c.567C>T (p.Arg189Trp) | Missense | <0.1% | Reduced splicing efficiency; reported in ClinVar |
| c.2345_2346insA | Frameshift | <0.1% | Loss of function; observed in COSMIC for colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the helicase domain lead to loss of RNA unwinding activity and impaired spliceosome function.
Gain of Function (GOF)
Not well documented; some missense mutations may increase helicase activity but evidence is limited.
Dominant Negative (DN)
Missense mutations in the DEAD box may produce a protein that interferes with wild-type DDX46 function in splicing.
View complete mutation data：
Gene Ontology (GO)
| • RNA helicase activity (GO:0003724) | • ATP binding (GO:0005524) |
| • via spliceosome (GO:0000398) | • nucleus (GO:0005634) |
| • U2 snRNP binding (GO:0030619) |
Pathways
• Spliceosome (KEGG hsa03040)
• mRNA Splicing - Major Pathway (Reactome R-HSA-72163)
Protein Summary
DDX46 is a 1032-amino acid DEAD-box RNA helicase that localizes to the nucleus and functions as an essential component of the U2 snRNP in the spliceosome. It uses ATP hydrolysis to unwind RNA secondary structures, facilitating the recognition of the branch point during pre-mRNA splicing. The protein contains a conserved helicase core with DEAD-box motifs and a C-terminal domain involved in protein-protein interactions. Mutations in DDX46 can disrupt splicing fidelity and are linked to cancer and neurodevelopmental disorders.
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