DNAI4 Gene - Dynein Axonemal Intermediate Chain 4
Essential Component of Ciliary Dynein Complex
Gene Information Card
| Symbol | DNAI4 |
|---|---|
| Full Name | dynein axonemal intermediate chain 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p13.3 |
| NCBI Gene ID | 284403 ncbi.nlm.nih.gov/gene/284403 |
| Ensembl ID | ENSG00000162614 |
| UniProt ID | Q8N4P3 |
| OMIM ID | 617092 |
| HGNC ID | 29267 |
| Aliases | DKFZp686B24107, FLJ32731 |
Description
DNAI4 encodes an axonemal dynein intermediate chain, a component of the outer dynein arm in cilia. This protein is essential for ciliary motility and mucociliary clearance. Mutations in DNAI4 are associated with primary ciliary dyskinesia (PCD), a disorder characterized by chronic respiratory tract infections, infertility, and situs inversus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 47 | Loss-of-function mutations impair outer dynein arm assembly, leading to defective ciliary motility. | ClinVar, OMIM |
| Primary Ciliary Dyskinesia | DNAI4 variants cause reduced or absent ciliary beat frequency. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Trachea | 7.1 | Medium |
| Fallopian Tube | 6.8 | Medium |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 5.2 | Moderate expression |
| BEAS-2B (bronchial epithelial) | 6.1 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 0.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function; premature termination |
| c.890G>A (p.Arg297His) | Missense | Unknown | Likely damaging; disrupts protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing outer 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)
| • axonemal dynein complex (GO:0005858) | • cilium movement (GO:0003341) |
| • ATP-dependent microtubule motor activity (GO:0008569) | • outer dynein arm (GO:0036157) |
Pathways
• Ciliary motility (Reactome: R-HSA-5620920)
• Axonemal dynein assembly (Reactome: R-HSA-5620912)
Protein Summary
DNAI4 encodes a 650-amino acid intermediate chain of the axonemal dynein complex. The protein contains WD40 repeats and a dynein intermediate chain domain, localizing to the outer dynein arm of cilia. It is critical for generating ciliary bending and coordinated beating.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAI4 Knockout HEK293 Cell Line | EDJ-KQ13177 | Human | 79819 | Details Get a Quote |
| DNAI4 Knockout A-549 Cell Line | EDJ-KQ42530 | Human | 79819 | Details Get a Quote |
| DNAI4 Knockout HCT 116 Cell Line | EDJ-KQ42531 | Human | 79819 | Details Get a Quote |
| DNAI4 Knockout HeLa Cell Line | EDJ-KQ42532 | Human | 79819 | Details Get a Quote |
