DNAH7 Gene: Dynein Axonemal Heavy Chain 7
Essential component of ciliary and flagellar motility
Gene Information Card
| Symbol | DNAH7 |
|---|---|
| Full Name | Dynein Axonemal Heavy Chain 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q32.3 |
| NCBI Gene ID | 56171 ncbi.nlm.nih.gov/gene/56171 |
| Ensembl ID | ENSG00000115129 |
| UniProt ID | Q8WXX0 |
| OMIM ID | 610063 |
| HGNC ID | 2950 |
| Aliases | DNAHC7, DNEL1, FLJ20071, KIAA0727 |
Description
DNAH7 encodes a member of the dynein axonemal heavy chain protein family. Dyneins are microtubule-associated motor protein complexes that power the beating of cilia and flagella. The heavy chain contains the ATPase activity and provides the force for movement along microtubules. DNAH7 is specifically expressed in tissues with motile cilia, including the respiratory tract, fallopian tubes, and sperm flagella, and is essential for proper ciliary function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | Loss-of-function mutations in DNAH7 disrupt the assembly or function of the outer dynein arm in cilia, impairing mucociliary clearance. | ClinVar, OMIM |
| Situs Inversus | Defective ciliary motility during embryonic development can lead to randomization of left-right body asymmetry. | OMIM |
| Asthenozoospermia | DNAH7 mutations cause reduced or absent sperm motility due to flagellar dynein defects. | UniProt, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.1 | High |
| Lung | 12.3 | Medium |
| Fallopian Tube | 10.8 | Medium |
| Trachea | 9.5 | Medium |
| Brain (cerebellum) | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 8.4 | Respiratory epithelial model |
| BEAS-2B (bronchial epithelial) | 7.9 | Normal bronchial epithelium |
| HepG2 (hepatocellular carcinoma) | 1.2 | Low 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.Arg412*) | Nonsense | Rare | Premature stop codon; loss of protein function |
| c.5678_5681del (p.Glu1893Valfs*12) | Frameshift deletion | Rare | Truncated protein; loss of ATPase domain |
| c.8902G>A (p.Glu2968Lys) | Missense | Unknown | Potential disruption of microtubule-binding domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt the ATPase domain lead to loss of dynein motor activity and impaired ciliary motility.
Gain of Function (GOF)
No gain-of-function mutations have been reported for DNAH7.
Dominant Negative (DN)
No dominant-negative mutations have been described; inheritance in PCD is typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT:2134495 - Cilium Assembly
• REACT:2134496 - Axonemal Dynein Complex
• KEGG:04820 - Cytoskeleton in muscle cells (indirect)
Protein Summary
DNAH7 is a large protein (approximately 4,500 amino acids) that forms the heavy chain subunit of the axonemal dynein complex. It contains a conserved AAA+ ATPase domain in the motor head, a microtubule-binding stalk, and a tail domain that anchors the complex to the outer doublet microtubules of cilia and flagella. The protein hydrolyzes ATP to generate the mechanical force required for ciliary beating. Defects in DNAH7 lead to primary ciliary dyskinesia, characterized by chronic respiratory infections, infertility, and sometimes situs inversus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAH7 Knockout HEK293 Cell Line | EDJ-KQ13172 | Human | 56171 | Details Get a Quote |
| DNAH7 Knockout HeLa Cell Line | EDJ-KQ56719 | Human | 56171 | Details Get a Quote |
| DNAH7 Knockout A-549 Cell Line | EDJ-KQ65224 | Human | 56171 | Details Get a Quote |
| DNAH7 Knockout HCT 116 Cell Line | EDJ-KQ73662 | Human | 56171 | Details Get a Quote |
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