DNAAF5
Dynein Axonemal Assembly Factor 5
Gene Information Card
| Symbol | DNAAF5 |
|---|---|
| Full Name | Dynein Axonemal Assembly Factor 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p22.3 |
| NCBI Gene ID | 54919 ncbi.nlm.nih.gov/gene/54919 |
| Ensembl ID | ENSG00000164818 |
| UniProt ID | Q86Y56 |
| OMIM ID | 614864 |
| HGNC ID | 28379 |
| Aliases | CILD18, HEATR2, MGC13125 |
Description
DNAAF5 (dynein axonemal assembly factor 5) encodes a protein containing HEAT repeat domains that localizes to the cytoplasm and is required for the preassembly of axonemal dynein complexes. It is essential for ciliary motility and proper function of motile cilia. Mutations in DNAAF5 cause primary ciliary dyskinesia type 18 (CILD18), an autosomal recessive disorder characterized by chronic respiratory infections, situs inversus, and infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia 18 (CILD18) | Loss-of-function mutations impair dynein arm assembly, leading to immotile cilia | OMIM #614864; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Lung | 8.7 | Medium |
| Trachea | 7.9 | Medium |
| Fallopian tube | 6.5 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 9.4 | RNA-seq |
| HepG2 (hepatocellular carcinoma) | 5.2 | RNA-seq |
| K562 (leukemia) | 3.8 | RNA-seq |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1483C>T (p.Arg495*) | Nonsense | Rare | Loss of function; predicted NMD |
| c.2155C>T (p.Arg719Trp) | Missense | Rare | Likely damaging; disrupts HEAT repeat |
| c.1012_1013del (p.Leu338Glufs*12) | Frameshift | Rare | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Most reported DNAAF5 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 for DNAAF5.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT:R-HSA-5617833 – Cilium Assembly
• REACT:R-HSA-5620920 – Dynein arm assembly
Protein Summary
DNAAF5 is a cytoplasmic HEAT repeat-containing protein essential for the preassembly of axonemal dynein complexes. It interacts with other dynein assembly factors (e.g., DNAAF1, DNAAF2) and is required for the formation of both outer and inner dynein arms in motile cilia. Loss of DNAAF5 function results in primary ciliary dyskinesia with defective mucociliary clearance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAAF5 Knockout HEK293 Cell Line | EDJ-KQ13169 | Human | 54919 | Details Get a Quote |
| DNAAF5 Knockout A-549 Cell Line | EDJ-KQ42513 | Human | 54919 | Details Get a Quote |
| DNAAF5 Knockout HCT 116 Cell Line | EDJ-KQ42514 | Human | 54919 | Details Get a Quote |
| DNAAF5 Knockout HeLa Cell Line | EDJ-KQ42515 | Human | 54919 | Details Get a Quote |
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