DNAH17: Dynein Axonemal Heavy Chain 17
A critical component of the axonemal dynein motor complex, essential for ciliary motility and implicated in primary ciliary dyskinesia.
Gene Information Card
| Symbol | DNAH17 |
|---|---|
| Full Name | Dynein Axonemal Heavy Chain 17 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 8632 ncbi.nlm.nih.gov/gene/8632 |
| Ensembl ID | ENSG00000187775 |
| UniProt ID | Q9C0G6 |
| OMIM ID | 610063 |
| HGNC ID | 2950 |
| Aliases | DNAHC17, KIAA1414, FLJ20071, Dnahc17 |
Description
DNAH17 encodes a dynein axonemal heavy chain protein, a key component of the outer dynein arm (ODA) 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 DNAH17 cause primary ciliary dyskinesia (PCD) with or without situs inversus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | Loss-of-function mutations in DNAH17 disrupt outer dynein arm assembly, impairing ciliary motility. This leads to chronic respiratory infections, bronchiectasis, and infertility. | ClinVar, OMIM |
| Primary Ciliary Dyskinesia with Situs Inversus (Kartagener Syndrome) | Defective ciliary motility during embryogenesis prevents normal left-right asymmetry, resulting in situs inversus totalis. | OMIM, PubMed |
| Male Infertility (Asthenozoospermia) | DNAH17 mutations cause sperm flagellar defects, leading to reduced or absent sperm motility. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Trachea | 15.2 | Medium |
| Lung | 8.7 | Medium |
| Fallopian Tube | 6.4 | Low |
| Brain (Cerebellum) | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 (retinal pigment epithelium) | 12.3 | Ciliated cell line |
| BEAS-2B (bronchial epithelium) | 9.8 | Airway epithelial cell line |
| HepG2 (liver) | 0.5 | Non-ciliated control |
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 codon; loss of function |
| c.5678_5681del (p.Glu1893Valfs*2) | Frameshift deletion | <0.01% | Frameshift; truncated protein |
| c.9012G>A (p.Trp3004*) | Nonsense | <0.01% | Premature stop codon; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most DNAH17 mutations are loss-of-function (nonsense, frameshift, splice-site), leading to truncated or absent protein, disrupting outer dynein arm function.
Gain of Function (GOF)
No gain-of-function mutations reported for DNAH17.
Dominant Negative (DN)
No dominant-negative mutations reported; PCD inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003777 (GO:0003777) | • GO:0008569 (GO:0008569) |
| • GO:0005858 (GO:0005858) | • GO:0007018 (GO:0007018) |
| • GO:0060285 (GO:0060285) | • GO:0003341 (GO:0003341) |
Pathways
• Cilium Assembly (Reactome: R-HSA-5620920)
• Axonemal Dynein Motor Activity (KEGG: hsa05016)
Protein Summary
DNAH17 is a large (approximately 4500 amino acids) axonemal dynein heavy chain protein. It contains an N-terminal microtubule-binding domain, a central AAA+ ATPase motor domain, and a C-terminal stalk. It forms part of the outer dynein arm, which powers ciliary and flagellar beating. The protein is highly expressed in tissues with motile cilia, such as the respiratory tract and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAH17 Knockout HEK293 Cell Line | EDJ-KQ6307 | Human | 8632 | Details Get a Quote |
| DNAH17 Knockout A-549 Cell Line | EDJ-KQ30216 | Human | 8632 | Details Get a Quote |
| DNAH17 Knockout HCT 116 Cell Line | EDJ-KQ30217 | Human | 8632 | Details Get a Quote |
| DNAH17 Knockout HeLa Cell Line | EDJ-KQ30218 | Human | 8632 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
