DNAH5 Gene: Dynein Axonemal Heavy Chain 5
Essential for Ciliary Motility and Associated with Primary Ciliary Dyskinesia
Gene Information Card
| Symbol | DNAH5 |
|---|---|
| Full Name | dynein axonemal heavy chain 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 5p15.2 |
| NCBI Gene ID | 1767 ncbi.nlm.nih.gov/gene/1767 |
| Ensembl ID | ENSG00000138795 |
| UniProt ID | Q8TE73 |
| OMIM ID | 603335 |
| HGNC ID | 2950 |
| Aliases | HL1, PCD, CILD3, DNAHC5, Dnahc5, KIAA1079 |
Description
The DNAH5 gene encodes a dynein axonemal heavy chain protein, a component of the outer dynein arm in cilia. This protein is essential for ciliary motility, facilitating the movement of respiratory cilia, sperm flagella, and other motile cilia. Mutations in DNAH5 are a common cause of primary ciliary dyskinesia (PCD), often associated with situs inversus and chronic respiratory tract infections.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 3 (CILD3) | Loss-of-function mutations impair outer dynein arm assembly, leading to defective ciliary motility. | ClinVar, OMIM |
| Kartagener Syndrome | Biallelic DNAH5 mutations cause situs inversus, chronic sinusitis, and bronchiectasis due to ciliary dysfunction. | OMIM, NCBI |
| Sperm Flagellar Defects | DNAH5 mutations disrupt sperm flagellar movement, contributing to male infertility. | UniProt, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 34.2 | High |
| Lung | 18.5 | Medium |
| Trachea | 15.3 | Medium |
| Fallopian Tube | 12.1 | Medium |
| Brain | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| BEAS-2B (bronchial epithelial) | 22.4 | Ciliated cell model |
| HPAEpiC (pulmonary alveolar epithelial) | 18.7 | Primary lung cells |
| hTERT-RPE1 (retinal pigment epithelial) | 1.2 | Non-ciliated control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.10815delT (p.Phe3605Leufs*23) | Frameshift | Common in PCD | Loss of function |
| c.4348C>T (p.Arg1450*) | Nonsense | Recurrent | Premature stop, loss of function |
| c.7915G>A (p.Gly2639Arg) | Missense | Rare | Impaired protein folding |
Mutation functional classification
Loss of Function (LOF)
Most DNAH5 mutations are loss-of-function (nonsense, frameshift, splice-site), leading to truncated or absent protein and defective outer dynein arms.
Gain of Function (GOF)
No gain-of-function mutations reported for DNAH5.
Dominant Negative (DN)
No dominant-negative mutations reported; DNAH5-associated PCD is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• KEGG: hsa05016 - Huntington disease (ciliary dysfunction)
• Reactome: R-HSA-5620920 - Cargo trafficking in the cilium
• Reactome: R-HSA-5620912 - Axonemal dynein assembly
Protein Summary
DNAH5 is a 4,624-amino-acid protein (UniProt Q8TE73) that forms part of the outer dynein arm in ciliary axonemes. It contains AAA+ ATPase domains and microtubule-binding domains, generating force for ciliary beating. Mutations disrupt ciliary motility, leading to primary ciliary dyskinesia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAH5 Knockout HEK293 Cell Line | EDJ-KQ925 | Human | 1767 | Details Get a Quote |
| DNAH5 Knockout A-549 Cell Line | EDJ-KQ19894 | Human | 1767 | Details Get a Quote |
| DNAH5 Knockout HCT 116 Cell Line | EDJ-KQ19895 | Human | 1767 | Details Get a Quote |
| DNAH5 Knockout HeLa Cell Line | EDJ-KQ19896 | Human | 1767 | Details Get a Quote |
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