DNAAF3
Dynein Axonemal Assembly Factor 3
Gene Information Card
| Symbol | DNAAF3 |
|---|---|
| Full Name | Dynein Axonemal Assembly Factor 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 123720 ncbi.nlm.nih.gov/gene/123720 |
| Ensembl ID | ENSG00000167658 |
| UniProt ID | Q8N9W6 |
| OMIM ID | 614566 |
| HGNC ID | 28332 |
| Aliases | CILD16, PF22, FLJ35767 |
Description
DNAAF3 (dynein axonemal assembly factor 3) encodes a protein involved in the cytoplasmic preassembly of axonemal dynein complexes, which are essential for ciliary and flagellar motility. Mutations in DNAAF3 cause primary ciliary dyskinesia type 16 (CILD16), characterized by respiratory tract infections, infertility, and situs inversus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 16 (CILD16) | Loss-of-function mutations impair dynein arm assembly, leading to defective ciliary motility. | OMIM #614566; ClinVar; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.2 | Low |
| Trachea | 7.9 | Low |
| Fallopian tube | 6.8 | Low |
| Brain | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung) | 5.4 | Low expression |
| HepG2 (liver) | 2.1 | Not detected |
| K562 (blood) | 1.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1300C>T (p.Arg434*) | Nonsense | Rare (MAF <0.01%) | Loss of function; associated with CILD16 |
| c.1669C>T (p.Arg557*) | Nonsense | Rare | Loss of function; reported in CILD16 |
| c.238_239del (p.Gln80Valfs*12) | Frameshift | Rare | Loss of function; pathogenic in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in DNAAF3 result in truncated or absent protein, disrupting dynein arm preassembly and causing primary ciliary dyskinesia.
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)
Pathways
• REACT: R-HSA-5620920 – Cargo trafficking to the cilium
• REACT: R-HSA-5617833 – Cilium assembly
Protein Summary
DNAAF3 is a 574-amino-acid protein localized to the cytoplasm, where it participates in the preassembly of dynein arm complexes before their transport to cilia. It contains a coiled-coil domain and is conserved across ciliated species. Loss of DNAAF3 function leads to absence of both outer and inner dynein arms in cilia, resulting in immotile cilia and primary ciliary dyskinesia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAAF3 Knockout HEK293 Cell Line | EDJ-KQ13167 | Human | 352909 | Details Get a Quote |
| DNAAF3 Knockout A-549 Cell Line | EDJ-KQ42507 | Human | 352909 | Details Get a Quote |
| DNAAF3 Knockout HCT 116 Cell Line | EDJ-KQ42508 | Human | 352909 | Details Get a Quote |
| DNAAF3 Knockout HeLa Cell Line | EDJ-KQ42509 | Human | 352909 | Details Get a Quote |
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