DNAH3: Dynein Axonemal Heavy Chain 3
A key component of the axonemal dynein motor complex, essential for ciliary and flagellar motility.
Gene Information Card
| Symbol | DNAH3 |
|---|---|
| Full Name | Dynein Axonemal Heavy Chain 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p12.2 |
| NCBI Gene ID | 55567 ncbi.nlm.nih.gov/gene/55567 |
| Ensembl ID | ENSG00000161960 |
| UniProt ID | Q8TD57 |
| OMIM ID | 603334 |
| HGNC ID | 2949 |
| Aliases | DNAHC3, KIAA0329, Dnahc3, HL-20 |
Description
DNAH3 encodes an axonemal dynein heavy chain protein, a component of the inner and outer dynein arms of cilia and flagella. This motor protein uses ATP hydrolysis to generate force for microtubule sliding, essential for ciliary beat and sperm motility. Mutations in DNAH3 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 disrupt axonemal dynein assembly, impairing mucociliary clearance. | ClinVar, OMIM |
| Male Infertility (sperm flagellar defects) | Defective dynein heavy chain leads to asthenozoospermia and abnormal sperm motility. | OMIM, PubMed |
| Situs Inversus | Impaired nodal cilia function during embryogenesis can result in left-right asymmetry defects. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Trachea | 8.1 | Low |
| Lung | 6.5 | Low |
| Fallopian Tube | 5.9 | Low |
| Brain (cerebellum) | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 0.5 | Not detected |
| A549 | 0.3 | Not detected |
| HepG2 | 0.1 | Not detected |
| K562 | 0.0 | Not detected |
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*12) | Frameshift | Rare | Loss of function; premature termination |
| c.9010G>A (p.Gly3004Arg) | Missense | Rare | Likely damaging; disrupts ATP-binding site |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations that truncate or destabilize the protein, leading to absent or non-functional dynein arms.
Gain of Function (GOF)
Not reported for DNAH3.
Dominant Negative (DN)
Not reported; DNAH3 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity | • axonemal dynein complex |
| • cilium movement | • ATP binding |
| • dynein heavy chain |
Pathways
• Cilium Assembly
• Axonemal Dynein Motor Activity
Protein Summary
DNAH3 is a large (≈4600 amino acids) axonemal dynein heavy chain protein containing an N-terminal microtubule-binding domain, a central AAA+ ATPase motor domain, and a C-terminal stalk. It forms part of the inner dynein arm complex, powering ciliary and flagellar bending. The protein is highly expressed in testis and respiratory epithelia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAH3 Knockout HEK293 Cell Line | EDJ-KQ4457 | Human | 55567 | Details Get a Quote |
| DNAH3 Knockout HeLa Cell Line | EDJ-KQ56601 | Human | 55567 | Details Get a Quote |
| DNAH3 Knockout A-549 Cell Line | EDJ-KQ65102 | Human | 55567 | Details Get a Quote |
| DNAH3 Knockout HCT 116 Cell Line | EDJ-KQ73547 | Human | 55567 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
