DNAH11 Gene: Dynein Axonemal Heavy Chain 11
Essential for Ciliary Motility and Associated with Primary Ciliary Dyskinesia
Gene Information Card
| Symbol | DNAH11 |
|---|---|
| Full Name | Dynein Axonemal Heavy Chain 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p15.3 |
| NCBI Gene ID | 8701 ncbi.nlm.nih.gov/gene/8701 |
| Ensembl ID | ENSG00000105877 |
| UniProt ID | Q96DT5 |
| OMIM ID | 603339 |
| HGNC ID | 2949 |
| Aliases | DHC1, DHC11, DNHD11, KIAA0610, cilia dynein heavy chain 11 |
Description
DNAH11 encodes an axonemal dynein heavy chain protein, a component of the inner dynein arm of ciliary microtubules. This protein is essential for ciliary motility, generating force for the bending movement of cilia and flagella. Mutations in DNAH11 are a common cause of primary ciliary dyskinesia (PCD), often with situs inversus (Kartagener syndrome). The gene is expressed in tissues with motile cilia, including respiratory epithelium, fallopian tubes, and sperm flagella.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | Loss-of-function mutations disrupt inner dynein arm assembly, impairing ciliary beat frequency and waveform, leading to defective mucociliary clearance. | ClinVar, OMIM #603339 |
| Kartagener Syndrome (PCD with situs inversus) | Biallelic DNAH11 mutations cause randomization of left-right body asymmetry, resulting in situs inversus totalis in ~50% of cases. | OMIM #244400, NCBI Gene |
| Situs Inversus Totalis | Impaired nodal ciliary motility during embryogenesis disrupts normal left-right axis determination. | OMIM #603339, PubMed studies |
| Chronic Sinusitis and Bronchiectasis | Defective mucociliary clearance leads to recurrent respiratory infections, chronic inflammation, and airway damage. | ClinVar, literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Trachea | 15.2 | Medium |
| Fallopian Tube | 18.7 | High |
| Testis | 20.1 | High |
| Nasal Epithelium | 14.8 | Medium |
| Brain (Cerebellum) | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| BEAS-2B (Bronchial Epithelium) | 16.5 | Ciliated airway model |
| hTERT-RPE1 (Retinal Pigment Epithelium) | 1.2 | Non-ciliated control |
| Caco-2 (Colorectal) | 0.8 | Low expression |
| HepG2 (Liver) | 0.5 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.7915C>T (p.Arg2639*) | Nonsense | Rare (MAF <0.01%) | Premature stop, loss of function |
| c.13576C>T (p.Arg4526Trp) | Missense | Rare | Impaired ATPase activity |
| c.6018_6019del (p.Glu2007fs) | Frameshift | Rare | Loss of protein function |
| c.11453G>A (p.Arg3818His) | Missense | Rare | Reduced ciliary beat frequency |
Mutation functional classification
Loss of Function (LOF)
Most DNAH11 mutations are loss-of-function (nonsense, frameshift, splice-site), leading to truncated or absent protein, causing PCD with autosomal recessive inheritance.
Gain of Function (GOF)
No gain-of-function mutations reported for DNAH11.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• KEGG: hsa05016 (Huntington disease - ciliary dysfunction)
• Reactome: R-HSA-5620924 (Cargo trafficking to the cilium)
• Reactome: R-HSA-5617833 (Cilium assembly)
Protein Summary
DNAH11 is a large (4482 amino acids) axonemal dynein heavy chain protein that forms part of the inner dynein arm in motile cilia. It contains an ATPase motor domain that hydrolyzes ATP to generate force for microtubule sliding, driving ciliary bending. The protein is localized to the axoneme and is critical for normal ciliary beat frequency and waveform. Defects in DNAH11 cause primary ciliary dyskinesia with or without situs inversus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAH11 Knockout HEK293 Cell Line | EDJ-KQ6328 | Human | 8701 | Details Get a Quote |
| DNAH11 Knockout HCT 116 Cell Line | EDJ-KQ30264 | Human | 8701 | Details Get a Quote |
| DNAH11 Knockout HeLa Cell Line | EDJ-KQ54984 | Human | 8701 | Details Get a Quote |
| DNAH11 Knockout A-549 Cell Line | EDJ-KQ63466 | Human | 8701 | Details Get a Quote |
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