DNAH2: Dynein Axonemal Heavy Chain 2
A key component of the axonemal dynein motor complex, essential for ciliary and flagellar motility.
Gene Information Card
| Symbol | DNAH2 |
|---|---|
| Full Name | Dynein Axonemal Heavy Chain 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 64446 ncbi.nlm.nih.gov/gene/64446 |
| Ensembl ID | ENSG00000108469 |
| UniProt ID | Q9P2D7 |
| OMIM ID | 603335 |
| HGNC ID | 2951 |
| Aliases | DNHD2, DHC2, KIAA1503 |
Description
DNAH2 encodes a heavy chain subunit of axonemal dynein, a microtubule-associated motor protein complex that powers the beating of cilia and flagella. This protein is specifically expressed in ciliated cells and is critical for respiratory mucociliary clearance, sperm motility, and left-right body axis determination. Mutations in DNAH2 are associated with primary ciliary dyskinesia (PCD) and related disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | Loss-of-function mutations disrupt axonemal dynein assembly, impairing ciliary beat frequency and waveform. | ClinVar, OMIM |
| Situs Inversus (in PCD context) | Defective ciliary motility during embryogenesis prevents normal left-right asymmetry, leading to random organ placement. | OMIM, literature |
| Male Infertility (sperm motility defects) | Absent or dyskinetic flagellar movement due to defective dynein heavy chain in sperm tail. | UniProt, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Lung | 12.3 | Medium |
| Trachea | 10.1 | Medium |
| Fallopian Tube | 8.7 | Medium |
| Brain (cerebellum) | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 5.2 | Ciliated epithelial model |
| BEAS-2B (bronchial epithelial) | 4.8 | Normal airway epithelium |
| HepG2 (hepatocellular carcinoma) | 0.3 | 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 | Rare | Premature stop; loss of protein function |
| c.5678_5681del (p.Glu1893Valfs*12) | Frameshift deletion | Rare | Truncated protein; loss of motor domain |
| c.9012G>A (p.Trp3004*) | Nonsense | Rare | Nonsense-mediated decay; complete loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported DNAH2 mutations are loss-of-function (nonsense, frameshift, splice-site), leading to absent or non-functional dynein heavy chain and impaired ciliary motility.
Gain of Function (GOF)
No gain-of-function mutations have been reported for DNAH2.
Dominant Negative (DN)
No dominant-negative mechanisms have been described; inheritance is typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity | • axonemal dynein complex |
| • cilium movement | • ATP binding |
| • dynein heavy chain binding |
Pathways
• Cilium Assembly (Reactome: R-HSA-5617833)
• Axonemal Dynein Motor Activity (GO:0008569)
Protein Summary
DNAH2 is a 4,486-amino-acid protein that forms part of the outer dynein arm in ciliary and flagellar axonemes. It contains an N-terminal microtubule-binding domain, a central AAA+ ATPase motor domain, and a C-terminal stalk that interacts with microtubules. The protein hydrolyzes ATP to generate mechanical force for ciliary bending. Defects in DNAH2 result in reduced or absent ciliary motility, leading to respiratory infections, infertility, and situs inversus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAH2 Knockout HEK293 Cell Line | EDJ-KQ10492 | Human | 146754 | Details Get a Quote |
| DNAH2 Knockout HCT 116 Cell Line | EDJ-KQ37894 | Human | 146754 | Details Get a Quote |
| DNAH2 Knockout HeLa Cell Line | EDJ-KQ58554 | Human | 146754 | Details Get a Quote |
| DNAH2 Knockout A-549 Cell Line | EDJ-KQ67044 | Human | 146754 | Details Get a Quote |
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