DNAAF4 Gene
Dynein Axonemal Assembly Factor 4
Gene Information Card
| Symbol | DNAAF4 |
|---|---|
| Full Name | Dynein Axonemal Assembly Factor 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q21.3 |
| NCBI Gene ID | 285600 ncbi.nlm.nih.gov/gene/285600 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q8NEP3 |
| OMIM ID | 614838 |
| HGNC ID | 29303 |
| Aliases | CCDC151, DYX1C1, EKN1 |
Description
DNAAF4 (dynein axonemal assembly factor 4) encodes a protein involved in the preassembly of dynein arm complexes in cilia and flagella. It is essential for proper ciliary motility and mucociliary clearance. Mutations in this gene cause primary ciliary dyskinesia (PCD) with situs inversus (Kartagener syndrome).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia (PCD) | Loss-of-function mutations impair dynein arm assembly, leading to defective ciliary motility | ClinVar, OMIM |
| Kartagener syndrome | Biallelic DNAAF4 mutations cause PCD with situs inversus | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.2 | Low |
| Trachea | 7.1 | Low |
| Brain | 3.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 6.8 | Low expression |
| HepG2 (hepatocellular carcinoma) | 2.1 | Not detected |
| K562 (leukemia) | 1.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1240C>T (p.Arg414*) | Nonsense | Rare | Loss of function; associated with PCD |
| c.1354C>T (p.Arg452Trp) | Missense | Rare | Likely pathogenic; disrupts protein function |
| c.1685_1686del (p.Glu562Glyfs*13) | Frameshift | Rare | Loss of function; causes PCD |
Mutation functional classification
Loss of Function (LOF)
Most DNAAF4 mutations are loss-of-function (nonsense, frameshift, splice-site), leading to absent or nonfunctional protein and defective dynein arm assembly.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • epithelial cilium movement (GO:0003351) | • outer dynein arm assembly (GO:0036158) |
| • inner dynein arm assembly (GO:0036159) | • cytoplasm (GO:0005737) |
| • cilium (GO:0005929) |
Pathways
• Cilium assembly and dynein arm preassembly pathway
• Axonemal dynein complex assembly
Protein Summary
DNAAF4 is a cytoplasmic protein that participates in the preassembly of axonemal dynein complexes before their transport into cilia. It interacts with other dynein assembly factors (e.g., DNAAF1, DNAAF2) and is critical for the formation of functional outer and inner dynein arms. Loss of DNAAF4 results in immotile cilia and primary ciliary dyskinesia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAAF4 Knockout HEK293 Cell Line | EDJ-KQ13168 | Human | 161582 | Details Get a Quote |
| DNAAF4 Knockout HeLa Cell Line | EDJ-KQ41278 | Human | 161582 | Details Get a Quote |
| DNAAF4 Knockout A-549 Cell Line | EDJ-KQ42510 | Human | 161582 | Details Get a Quote |
| DNAAF4 Knockout HCT 116 Cell Line | EDJ-KQ42511 | Human | 161582 | Details Get a Quote |
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