RSPH9
Radial Spoke Head Component 9
Gene Information Card
| Symbol | RSPH9 |
|---|---|
| Full Name | Radial Spoke Head Component 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 221421 ncbi.nlm.nih.gov/gene/221421 |
| Ensembl ID | ENSG00000172469 |
| UniProt ID | Q9H1X1 |
| OMIM ID | 612648 |
| HGNC ID | 21567 |
| Aliases | RSPH9, C6orf206, dJ412I7.2 |
Description
RSPH9 encodes a component of the radial spoke head in motile cilia, essential for ciliary motility and axonemal structure. Mutations in this gene cause primary ciliary dyskinesia type 12 (PCD12), characterized by respiratory tract infections, infertility, and situs inversus in some cases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 12 (PCD12) | Loss-of-function mutations disrupt radial spoke assembly, impairing ciliary beat frequency and waveform. | OMIM #612650; ClinVar pathogenic variants |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Lung | 8.7 | Low |
| Trachea | 7.5 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 5.4 | Ciliated epithelial cell line |
| BEAS-2B | 6.1 | Bronchial epithelial line |
| HeLa | 0.8 | Non-ciliated |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.226C>T (p.Arg76*) | Nonsense | Rare | Premature stop, loss of function |
| c.341_342delAG (p.Glu114Valfs*2) | Frameshift | Rare | Truncated protein, loss of function |
| c.922C>T (p.Arg308Trp) | Missense | Rare | Likely damaging, disrupts radial spoke head |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants cause loss of radial spoke head function, leading to ciliary dyskinesia.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mechanisms described.
View complete mutation data：
Gene Ontology (GO)
| • Radial spoke | • Motile cilium |
| • Cilium movement | • Axoneme assembly |
| • Protein binding |
Pathways
• Ciliary motility
• Axoneme structure
Protein Summary
RSPH9 is a 276-amino acid protein localized to the radial spoke head of motile cilia axonemes. It interacts with other radial spoke proteins to regulate ciliary beat frequency and waveform. Defects cause primary ciliary dyskinesia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RSPH9 Knockout HEK293 Cell Line | EDJ-KQ8821 | Human | 221421 | Details Get a Quote |
| RSPH9 Knockout HeLa Cell Line | EDJ-KQ59167 | Human | 221421 | Details Get a Quote |
| RSPH9 Knockout A-549 Cell Line | EDJ-KQ67640 | Human | 221421 | Details Get a Quote |
| RSPH9 Knockout HCT 116 Cell Line | EDJ-KQ76025 | Human | 221421 | Details Get a Quote |
