DNAH12: Dynein Axonemal Heavy Chain 12
A key component of the axonemal dynein motor complex, essential for ciliary and flagellar motility.
Gene Information Card
| Symbol | DNAH12 |
|---|---|
| Full Name | dynein axonemal heavy chain 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p14.3 |
| NCBI Gene ID | 148602 ncbi.nlm.nih.gov/gene/148602 |
| Ensembl ID | ENSG00000174944 |
| UniProt ID | Q6ZR08 |
| OMIM ID | 603340 |
| HGNC ID | 2947 |
| Aliases | DNHD2, Dnahc12, FLJ46411 |
Description
DNAH12 encodes a member of the dynein axonemal heavy chain protein family. These proteins are large motor ATPases that form the inner and outer dynein arms of cilia and flagella, generating the force for microtubule sliding and thus ciliary/flagellar motility. DNAH12 is specifically expressed in tissues with motile cilia, such as respiratory epithelium, and is critical for mucociliary clearance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | Loss-of-function mutations in DNAH12 disrupt outer dynein arm assembly, impairing ciliary beat frequency and mucociliary clearance. | ClinVar, OMIM |
| Situs Inversus | Defective ciliary motility during embryonic development can lead to randomization of left-right body asymmetry, resulting in situs inversus in some PCD patients. | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.2 | Medium |
| Fallopian Tube | 7.1 | Medium |
| Trachea | 6.8 | Medium |
| Brain (cerebellum) | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 5.3 | RNA-seq data |
| BEAS-2B (bronchial epithelial) | 4.8 | RNA-seq data |
| HepG2 (hepatocellular carcinoma) | 0.9 | 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, loss of function |
| c.5678_5681del (p.Glu1893Valfs*2) | Frameshift deletion | Rare | Truncated protein, loss of function |
| c.9012G>A (p.Trp3004*) | Nonsense | Rare | Premature stop, loss of function |
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 DNAH12.
Dominant Negative (DN)
No dominant-negative mutations reported; PCD associated with DNAH12 is typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ciliary motility (Reactome: R-HSA-5620924)
• Axonemal dynein complex assembly (Reactome: R-HSA-5620912)
Protein Summary
DNAH12 is a large protein (approximately 4,500 amino acids) containing an N-terminal microtubule-binding domain, a central AAA+ ATPase motor domain, and a C-terminal stalk. It is a component of the outer dynein arm in motile cilia and flagella. The protein hydrolyzes ATP to generate force for microtubule sliding, essential for ciliary beating. Mutations cause primary ciliary dyskinesia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAH12 Knockout HEK293 Cell Line | EDJ-KQ4945 | Human | 201625 | Details Get a Quote |
| DNAH12 Knockout HeLa Cell Line | EDJ-KQ59024 | Human | 201625 | Details Get a Quote |
| DNAH12 Knockout A-549 Cell Line | EDJ-KQ67504 | Human | 201625 | Details Get a Quote |
| DNAH12 Knockout HCT 116 Cell Line | EDJ-KQ75902 | Human | 201625 | Details Get a Quote |
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