DNAH9: Dynein Axonemal Heavy Chain 9
Essential Component of Ciliary and Flagellar Motility
Gene Information Card
| Symbol | DNAH9 |
|---|---|
| Full Name | Dynein Axonemal Heavy Chain 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p12 |
| NCBI Gene ID | 1770 ncbi.nlm.nih.gov/gene/1770 |
| Ensembl ID | ENSG00000107175 |
| UniProt ID | Q9NYC9 |
| OMIM ID | 603330 |
| HGNC ID | 2953 |
| Aliases | DNAHC9, KIAA0358, Dnahc9, FLJ36672 |
Description
DNAH9 encodes the axonemal dynein heavy chain 9, a component of the outer dynein arm in cilia and flagella. This protein provides the motor force for ciliary beating, essential for mucociliary clearance, sperm motility, and left-right axis determination. Mutations in DNAH9 cause primary ciliary dyskinesia (PCD) with laterality defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 40 (CILD40) | Loss-of-function mutations impair outer dynein arm assembly, reducing ciliary beat frequency and causing defective mucociliary clearance. | ClinVar, OMIM |
| Primary Ciliary Dyskinesia with Situs Inversus (Kartagener Syndrome) | Biallelic DNAH9 mutations disrupt nodal cilia function, leading to randomized left-right body asymmetry. | OMIM, PubMed |
| Asthenozoospermia | DNAH9 defects cause sperm flagellar dysmotility due to impaired axonemal dynein function. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.5 | High |
| Lung | 12.3 | Medium |
| Trachea | 10.1 | Medium |
| Fallopian Tube | 8.7 | Medium |
| Brain (Cerebellum) | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 15.2 | Ciliated retinal pigment epithelial cells |
| BEAS-2B | 12.8 | Bronchial epithelial cells |
| Calu-3 | 10.5 | Airway epithelial cells |
| HepG2 | 0.8 | Hepatocellular carcinoma (low expression) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Premature stop, loss of function |
| c.5678_5681del (p.Glu1893Valfs*5) | Frameshift | <0.01% | Disrupted reading frame, loss of function |
| c.8902G>A (p.Gly2968Arg) | Missense | <0.01% | Impaired ATPase activity, reduced motility |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations that truncate or destabilize the protein, leading to outer dynein arm deficiency and ciliary immotility.
Gain of Function (GOF)
Not reported for DNAH9.
Dominant Negative (DN)
Not reported; DNAH9-associated PCD is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT:2134495 - Cilium Assembly
• REACT:2134496 - Axonemal Dynein Complex
• KEGG:04820 - Cytoskeleton in muscle cells (cilia-related)
Protein Summary
DNAH9 is a 4,484-amino-acid protein (UniProt Q9NYC9) belonging to the dynein heavy chain family. It contains an N-terminal microtubule-binding domain, a central AAA+ ATPase motor domain, and a C-terminal stalk. As part of the outer dynein arm, it hydrolyzes ATP to generate force for ciliary and flagellar bending. The protein is predominantly expressed in ciliated tissues such as testis, lung, and trachea.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAH9 Knockout HEK293 Cell Line | EDJ-KQ4463 | Human | 1770 | Details Get a Quote |
| DNAH9 Knockout HeLa Cell Line | EDJ-KQ53100 | Human | 1770 | Details Get a Quote |
| DNAH9 Knockout A-549 Cell Line | EDJ-KQ61573 | Human | 1770 | Details Get a Quote |
| DNAH9 Knockout HCT 116 Cell Line | EDJ-KQ70063 | Human | 1770 | Details Get a Quote |
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