RSPH14
Radial Spoke Head Component 14
Gene Information Card
| Symbol | RSPH14 |
|---|---|
| Full Name | Radial Spoke Head Component 14 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 144481 ncbi.nlm.nih.gov/gene/144481 |
| Ensembl ID | ENSG00000100290 |
| UniProt ID | Q9HCH0 |
| OMIM ID | 618616 |
| HGNC ID | 26407 |
| Aliases | RSPH10B, C22orf26, dJ402H5.2 |
Description
RSPH14 encodes a component of the radial spoke head in ciliary axonemes, essential for motile cilia function. Mutations in this gene are associated with primary ciliary dyskinesia (PCD) due to defects in ciliary motility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 47 | Loss-of-function mutations disrupt radial spoke assembly, impairing ciliary beat frequency and mucociliary clearance | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.2 | Low |
| Brain | 6.1 | Low |
| Heart | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney |
| A549 | 7.8 | Lung carcinoma |
| HeLa | 6.4 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Loss of function, associated with PCD |
| c.1234G>A (p.Gly412Arg) | Missense | Rare | Likely damaging, disrupts protein stability |
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.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • cilium movement | • radial spoke assembly |
| • axoneme | • motile cilium |
Pathways
• Ciliary motility
• Axoneme assembly
Protein Summary
RSPH14 is a 442-amino acid protein localized to the radial spoke head of motile cilia. It interacts with other radial spoke components to regulate ciliary beat frequency. Defects cause primary ciliary dyskinesia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RSPH14 Knockout HEK293 Cell Line | EDJ-KQ8700 | Human | 27156 | Details Get a Quote |
| RSPH14 Knockout A-549 Cell Line | EDJ-KQ34922 | Human | 27156 | Details Get a Quote |
| RSPH14 Knockout HCT 116 Cell Line | EDJ-KQ34923 | Human | 27156 | Details Get a Quote |
| RSPH14 Knockout HeLa Cell Line | EDJ-KQ56018 | Human | 27156 | Details Get a Quote |
