DNAAF2 Gene - Dynein Axonemal Assembly Factor 2
Essential for Ciliary Motility and Associated with Primary Ciliary Dyskinesia
Gene Information Card
| Symbol | DNAAF2 |
|---|---|
| Full Name | Dynein Axonemal Assembly Factor 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q21.3 |
| NCBI Gene ID | 55172 ncbi.nlm.nih.gov/gene/55172 |
| Ensembl ID | ENSG00000100883 |
| UniProt ID | Q9NRL3 |
| OMIM ID | 613190 |
| HGNC ID | 20189 |
| Aliases | KTU, PF13, C14orf104 |
Description
DNAAF2 (dynein axonemal assembly factor 2) encodes a protein essential for the preassembly of dynein arm complexes in the cytoplasm before their transport into cilia. This gene is critical for proper ciliary motility; mutations cause primary ciliary dyskinesia (PCD) with defects in outer and inner dynein arms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 10 (CILD10) | Loss-of-function mutations in DNAAF2 disrupt dynein arm assembly, impairing ciliary beat frequency and mucociliary clearance. | OMIM #613190; ClinVar pathogenic variants |
| Primary Ciliary Dyskinesia (general) | Biallelic DNAAF2 variants cause PCD with situs inversus in ~50% of cases (Kartagener syndrome). | NCBI Gene; multiple case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.3 | High |
| Trachea | 18.7 | High |
| Lung | 12.1 | Medium |
| Fallopian tube | 10.5 | Medium |
| Brain | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 15.2 | Ciliated epithelial cell line |
| BEAS-2B | 12.8 | Bronchial epithelial cells |
| HeLa | 4.1 | Cervical carcinoma, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1090C>T (p.Arg364*) | Nonsense | Rare | Loss of function; associated with PCD |
| c.748C>T (p.Arg250*) | Nonsense | Rare | Loss of function; reported in PCD families |
| c.1300C>T (p.Arg434Trp) | Missense | Rare | Likely damaging; disrupts protein function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein or nonsense-mediated decay, causing dynein arm deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported for DNAAF2.
Dominant Negative (DN)
No dominant-negative effects documented; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0036158 – outer dynein arm assembly | • GO:0036159 – inner dynein arm assembly |
| • GO:0003351 – epithelial cilium movement involved in extracellular fluid movement | • GO:0005737 – cytoplasm |
| • GO:0005813 – centrosome |
Pathways
• KEGG: hsa05016 – Huntington disease (ciliary component)
• Reactome: R-HSA-5620912 – Anchoring of the basal body to the plasma membrane
• Reactome: R-HSA-5617833 – Cilium assembly
Protein Summary
DNAAF2 (KTU) is a cytoplasmic protein that functions as a dynein axonemal assembly factor. It is required for the preassembly of outer and inner dynein arm complexes in the cytoplasm prior to their transport into cilia. The protein contains a PIH domain and interacts with other assembly factors such as DNAAF1 and DNAAF3. Loss of DNAAF2 leads to immotile cilia and primary ciliary dyskinesia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAAF2 Knockout HEK293 Cell Line | EDJ-KQ12394 | Human | 55172 | Details Get a Quote |
| DNAAF2 Knockout A-549 Cell Line | EDJ-KQ42503 | Human | 55172 | Details Get a Quote |
| DNAAF2 Knockout HCT 116 Cell Line | EDJ-KQ42505 | Human | 55172 | Details Get a Quote |
| DNAAF2 Knockout HeLa Cell Line | EDJ-KQ42506 | Human | 55172 | Details Get a Quote |
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