DNAH14 Gene - Dynein Axonemal Heavy Chain 14
Essential Component of Ciliary and Flagellar Motility
Gene Information Card
| Symbol | DNAH14 |
|---|---|
| Full Name | Dynein Axonemal Heavy Chain 14 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q42.12 |
| NCBI Gene ID | 127602 ncbi.nlm.nih.gov/gene/127602 |
| Ensembl ID | ENSG00000185862 |
| UniProt ID | Q5VZK9 |
| OMIM ID | 614884 |
| HGNC ID | 2949 |
| Aliases | DNAHC14, Dnahc14, FLJ46411 |
Description
DNAH14 encodes an axonemal dynein heavy chain protein, a component of the inner dynein arm in cilia and flagella. This protein provides the motor force for ciliary beating, essential for respiratory mucociliary clearance, sperm motility, and left-right axis determination during development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | Loss-of-function mutations impair ciliary motility, leading to chronic respiratory infections, situs inversus, and infertility. | ClinVar, OMIM |
| Asthenozoospermia | Defects in DNAH14 disrupt sperm flagellar movement, causing reduced sperm motility. | UniProt, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Lung | 9.2 | Medium |
| Trachea | 8.7 | Medium |
| Fallopian Tube | 6.1 | Medium |
| Brain | 1.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung) | 12.4 | High expression |
| BEAS-2B (Bronchial) | 10.1 | Medium expression |
| HepG2 (Liver) | 0.8 | 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.5678G>A (p.Gly1893Asp) | Missense | Unknown | Likely damaging to ATPase domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay, causing PCD.
Gain of Function (GOF)
Not reported for DNAH14.
Dominant Negative (DN)
Not established; PCD typically follows autosomal recessive inheritance.
View complete mutation data：
Gene Ontology (GO)
Pathways
• KEGG: hsa05016 - Huntington disease (ciliary dysfunction)
• Reactome: R-HSA-5620920 - Cargo trafficking to the cilium
• Reactome: R-HSA-5617833 - Cilium assembly
Protein Summary
DNAH14 is a large protein (approximately 4,500 amino acids) belonging to the axonemal dynein heavy chain family. It contains an N-terminal microtubule-binding domain, a central AAA+ ATPase motor domain, and a C-terminal stalk region. The protein localizes to the inner dynein arm of ciliary axonemes, where it hydrolyzes ATP to generate sliding force between microtubules, driving ciliary and flagellar beating.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAH14 Knockout HEK293 Cell Line | EDJ-KQ9065 | Human | 127602 | Details Get a Quote |
| DNAH14 Knockout A-549 Cell Line | EDJ-KQ34279 | Human | 127602 | Details Get a Quote |
| DNAH14 Knockout HCT 116 Cell Line | EDJ-KQ35535 | Human | 127602 | Details Get a Quote |
| DNAH14 Knockout HeLa Cell Line | EDJ-KQ35536 | Human | 127602 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
