DNAH8: Dynein Axonemal Heavy Chain 8
A key component of the axonemal dynein motor complex, essential for ciliary and flagellar motility, and implicated in primary ciliary dyskinesia and male infertility.
Gene Information Card
| Symbol | DNAH8 |
|---|---|
| Full Name | Dynein Axonemal Heavy Chain 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.2 |
| NCBI Gene ID | 1769 ncbi.nlm.nih.gov/gene/1769 |
| Ensembl ID | ENSG00000134046 |
| UniProt ID | Q96JB1 |
| OMIM ID | 603337 |
| HGNC ID | 2953 |
| Aliases | DNEL1, DNHD3, Dnahc8, KIAA1489 |
Description
DNAH8 encodes a dynein axonemal heavy chain protein, a component of the outer dynein arm in cilia and flagella. This protein is essential for generating the force required for ciliary and flagellar motility. Mutations in DNAH8 are associated with primary ciliary dyskinesia (PCD) and male infertility due to sperm flagellar defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | Loss-of-function mutations impair outer dynein arm assembly, reducing ciliary beat frequency and mucociliary clearance. | Watson et al., 2014; NCBI Gene |
| Male Infertility (Asthenozoospermia) | Defects in sperm flagellar axoneme due to DNAH8 mutations cause reduced sperm motility. | Ben Khelifa et al., 2014; OMIM |
| Situs Inversus | Associated with PCD (Kartagener syndrome) when combined with other dynein gene defects. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Lung | 6.2 | Medium |
| Trachea | 5.1 | Medium |
| Brain | 0.8 | Low |
| Heart | 0.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 12.3 | Ciliated retinal pigment epithelial cells |
| BEAS-2B | 8.7 | Bronchial epithelial cells |
| HeLa | 0.2 | Non-ciliated cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; truncation of heavy chain domain |
| c.5678_5681del (p.Glu1893Valfs*2) | Frameshift | Rare | Loss of function; premature stop codon |
| c.9012G>A (p.Trp3004*) | Nonsense | Rare | Loss of function; associated with PCD |
Mutation functional classification
Loss of Function (LOF)
Most reported DNAH8 mutations are loss-of-function, leading to truncated or absent protein, disrupting outer dynein arm assembly and ciliary/flagellar motility.
Gain of Function (GOF)
No gain-of-function mutations have been reported for DNAH8.
Dominant Negative (DN)
No dominant-negative mutations have been described; inheritance is typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • axonemal dynein complex | • microtubule motor activity |
| • cilium movement | • flagellated sperm motility |
| • ATP binding | • dynein heavy chain |
Pathways
• Ciliary motility
• Spermatogenesis
• Axonemal dynein assembly
Protein Summary
DNAH8 encodes a 4,482-amino acid protein (UniProt Q96JB1) that forms part of the outer dynein arm heavy chain in cilia and flagella. It contains ATPase and microtubule-binding domains, converting chemical energy into mechanical force for axonemal bending. The protein is highly expressed in testis and respiratory tract, consistent with its role in sperm and ciliary motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAH8 Knockout HEK293 Cell Line | EDJ-KQ4459 | Human | 1769 | Details Get a Quote |
| DNAH8 Knockout HeLa Cell Line | EDJ-KQ53099 | Human | 1769 | Details Get a Quote |
| DNAH8 Knockout A-549 Cell Line | EDJ-KQ61572 | Human | 1769 | Details Get a Quote |
| DNAH8 Knockout HCT 116 Cell Line | EDJ-KQ70062 | Human | 1769 | Details Get a Quote |
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