DNAH6: Dynein Axonemal Heavy Chain 6
Key regulator of ciliary motility and respiratory function
Gene Information Card
| Symbol | DNAH6 |
|---|---|
| Full Name | Dynein Axonemal Heavy Chain 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p11.2 |
| NCBI Gene ID | 1768 ncbi.nlm.nih.gov/gene/1768 |
| Ensembl ID | ENSG00000115970 |
| UniProt ID | Q9C0G6 |
| OMIM ID | 603336 |
| HGNC ID | 2952 |
| Aliases | DNHD3, Dnahc6, KIAA1505 |
Description
DNAH6 encodes an axonemal dynein heavy chain protein, a component of the inner dynein arm of cilia and flagella. This protein is essential for ciliary motility, particularly in respiratory epithelial cells and sperm flagella. Mutations in DNAH6 are associated with primary ciliary dyskinesia (PCD) and heterotaxy syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | Loss-of-function mutations impair ciliary motility, leading to defective mucociliary clearance. | ClinVar, OMIM |
| Heterotaxy Syndrome | Disrupted left-right body patterning due to defective nodal cilia function. | OMIM, PubMed |
| Situs Inversus Totalis | Complete mirror-image organ arrangement associated with PCD variants. | ClinVar, OMIM |
| Asthenozoospermia | Impaired sperm flagellar motility due to axonemal dynein defects. | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Fallopian Tube | 6.1 | Low |
| Brain - Cerebellum | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| BEAS-2B (bronchial epithelial) | 15.2 | High expression in respiratory ciliated cells |
| HepG2 (liver) | 2.1 | Low expression |
| A549 (lung carcinoma) | 7.8 | Moderate expression |
| K562 (leukemia) | 0.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Ter) | Nonsense | Rare | Loss of function; associated with PCD |
| c.5678_5681del (p.Glu1893ValfsTer5) | Frameshift deletion | Rare | Loss of function; reported in heterotaxy |
| c.8902G>A (p.Gly2968Ser) | Missense | Unknown | Likely damaging; reported in asthenozoospermia |
| c.11234A>G (p.Tyr3745Cys) | Missense | Rare | Uncertain significance; ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay; primary mechanism in PCD.
Gain of Function (GOF)
Not reported for DNAH6.
Dominant Negative (DN)
Not reported; disease inheritance is typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ciliary motility (Reactome: R-HSA-5620920)
• Axonemal dynein complex assembly (Reactome: R-HSA-5620912)
• Spermatogenesis (KEGG: hsa04724)
Protein Summary
DNAH6 is a 4,000+ amino acid protein belonging to the dynein heavy chain family. It contains AAA+ ATPase domains and a microtubule-binding stalk, providing the motor force for ciliary and flagellar beating. The protein localizes to the inner dynein arm of axonemes and is critical for respiratory cilia function and sperm motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAH6 Knockout HEK293 Cell Line | EDJ-KQ4458 | Human | 1768 | Details Get a Quote |
| DNAH6 Knockout HeLa Cell Line | EDJ-KQ53098 | Human | 1768 | Details Get a Quote |
| DNAH6 Knockout A-549 Cell Line | EDJ-KQ61571 | Human | 1768 | Details Get a Quote |
| DNAH6 Knockout HCT 116 Cell Line | EDJ-KQ70061 | Human | 1768 | Details Get a Quote |
