DNAI2 Gene: Dynein Axonemal Intermediate Chain 2
Essential for Ciliary Motility and Associated with Primary Ciliary Dyskinesia
Gene Information Card
| Symbol | DNAI2 |
|---|---|
| Full Name | dynein axonemal intermediate chain 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q25.1 |
| NCBI Gene ID | 64446 ncbi.nlm.nih.gov/gene/64446 |
| Ensembl ID | ENSG00000122035 |
| UniProt ID | Q9GZS0 |
| OMIM ID | 605483 |
| HGNC ID | HGNC:18744 |
| Aliases | DIC2, PCD, CILD9 |
Description
The DNAI2 gene encodes dynein axonemal intermediate chain 2, a component of the outer dynein arm in cilia and flagella. This protein is essential for microtubule-based ciliary movement. Mutations in DNAI2 impair ciliary motility, leading to primary ciliary dyskinesia (PCD), often with situs inversus (Kartagener syndrome).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 9 (CILD9) | Loss-of-function mutations in DNAI2 disrupt outer dynein arm assembly, causing defective ciliary beating. | OMIM #612444; multiple case reports in ClinVar and literature. |
| Kartagener Syndrome | Biallelic DNAI2 mutations result in PCD with situs inversus totalis due to embryonic nodal cilia dysfunction. | OMIM #244400; confirmed in familial studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Lung | 15.2 | Medium |
| Trachea | 12.8 | Medium |
| Fallopian Tube | 10.1 | Medium |
| Brain | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| BEAS-2B (bronchial epithelial) | 18.3 | Ciliated airway model |
| A549 (lung carcinoma) | 2.1 | Low expression |
| HepG2 (hepatocellular carcinoma) | 0.5 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.48+2T>C | Splice donor | Rare | Loss of function; exon skipping |
| c.1354C>T (p.Arg452*) | Nonsense | Rare | Premature stop; loss of protein |
| c.2213G>A (p.Arg738Gln) | Missense | Rare | Impaired dynein assembly |
Mutation functional classification
Loss of Function (LOF)
Most DNAI2 mutations are loss-of-function (nonsense, frameshift, splice-site), leading to absent or nonfunctional outer dynein arms.
Gain of Function (GOF)
No gain-of-function mutations reported for DNAI2.
Dominant Negative (DN)
No dominant-negative effects documented; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • axonemal dynein complex (GO:0005858) | • microtubule-based movement (GO:0007018) |
| • cilium movement (GO:0003341) | • motor activity (GO:0003774) |
| • microtubule associated complex (GO:0005875) |
Pathways
• Ciliary motility (Reactome: R-HSA-5620920)
• Axonemal dynein assembly (Reactome: R-HSA-5620916)
Protein Summary
DNAI2 encodes a 699-amino acid intermediate chain of the outer dynein arm. It contains WD40 repeats that mediate protein-protein interactions within the dynein complex. The protein localizes to the axoneme of cilia and flagella, where it couples ATP hydrolysis to microtubule sliding, driving ciliary beat.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAI2 Knockout HEK293 Cell Line | EDJ-KQ13176 | Human | 64446 | Details Get a Quote |
| DNAI2 Knockout HeLa Cell Line | EDJ-KQ57058 | Human | 64446 | Details Get a Quote |
| DNAI2 Knockout A-549 Cell Line | EDJ-KQ65571 | Human | 64446 | Details Get a Quote |
| DNAI2 Knockout HCT 116 Cell Line | EDJ-KQ74000 | Human | 64446 | Details Get a Quote |
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