DNAH10
Dynein Axonemal Heavy Chain 10
Gene Information Card
| Symbol | DNAH10 |
|---|---|
| Full Name | dynein axonemal heavy chain 10 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 196528 ncbi.nlm.nih.gov/gene/196528 |
| Ensembl ID | ENSG00000139618 |
| UniProt ID | Q8IVF4 |
| OMIM ID | 603340 |
| HGNC ID | 2949 |
| Aliases | DNAH10L, Dnahc10, KIAA1406 |
Description
DNAH10 encodes a heavy chain subunit of axonemal dynein, a microtubule-associated motor protein complex essential for ciliary and flagellar motility. The protein is part of the outer dynein arm and provides the force for ciliary beating. Mutations in DNAH10 are associated with primary ciliary dyskinesia (PCD), a disorder characterized by chronic respiratory tract infections, infertility, and sometimes situs inversus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | Loss-of-function mutations in DNAH10 disrupt outer dynein arm assembly, impairing ciliary motility and mucociliary clearance. | ClinVar, OMIM |
| Situs Inversus | Defective ciliary function during embryonic development can lead to random left-right body axis determination. | OMIM, literature |
| Male Infertility | Impaired flagellar motility due to defective axonemal dynein results in asthenozoospermia. | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Trachea | 8.3 | Low |
| Lung | 6.1 | Low |
| Fallopian Tube | 5.4 | Low |
| Brain (Cerebellum) | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 4.2 | Retinal pigment epithelial cells, ciliated |
| BEAS-2B | 3.8 | Bronchial epithelial cells, ciliated |
| HepG2 | 0.5 | Hepatocellular carcinoma, non-ciliated |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Premature stop, loss of function |
| c.5678_5681del (p.Glu1893Valfs*5) | Frameshift deletion | Rare | Loss of function, truncated protein |
| c.9012G>A (p.Trp3004*) | Nonsense | Rare | Loss of function, associated with PCD |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, causing primary ciliary dyskinesia.
Gain of Function (GOF)
No gain-of-function mutations reported for DNAH10.
Dominant Negative (DN)
No dominant-negative mutations reported for DNAH10.
View complete mutation data：
Gene Ontology (GO)
| • motor activity (GO:0003774) | • microtubule (GO:0005874) |
| • axonemal dynein complex (GO:0005858) | • cilium movement (GO:0003341) |
| • dynein complex (GO:0030286) | • microtubule-based movement (GO:0007018) |
Pathways
• Cilium Assembly (Reactome: R-HSA-5620920)
• Axonemal dynein complex (Reactome: R-HSA-5620912)
Protein Summary
DNAH10 is a 4,486-amino-acid heavy chain of axonemal dynein, localized to the outer dynein arm of cilia and flagella. It contains ATPase motor domains and microtubule-binding domains, generating the sliding force between microtubule doublets required for ciliary bending. 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 | |
|---|---|---|---|---|
| DNAH10 Knockout HEK293 Cell Line | EDJ-KQ13173 | Human | 196385 | Details Get a Quote |
| DNAH10 Knockout HCT 116 Cell Line | EDJ-KQ41292 | Human | 196385 | Details Get a Quote |
| DNAH10 Knockout A-549 Cell Line | EDJ-KQ42526 | Human | 196385 | Details Get a Quote |
| DNAH10 Knockout HeLa Cell Line | EDJ-KQ58968 | Human | 196385 | Details Get a Quote |
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