RSPH10B2: Radial Spoke Head Component 10B2
A gene encoding a component of the radial spoke head in cilia, associated with primary ciliary dyskinesia.
Gene Information Card
| Symbol | RSPH10B2 |
|---|---|
| Full Name | Radial Spoke Head Component 10B2 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p22.1 |
| NCBI Gene ID | 100129361 ncbi.nlm.nih.gov/gene/100129361 |
| Ensembl ID | ENSG00000205571 |
| UniProt ID | A6NKD9 |
| OMIM ID | 618541 |
| HGNC ID | 37221 |
| Aliases | RSPH10B, dJ1033B10.2 |
Description
RSPH10B2 encodes a member of the radial spoke head protein family, which is a structural component of the radial spoke in motile cilia. Radial spokes are essential for regulating ciliary beat frequency and waveform. Mutations in this gene can impair ciliary motility and are linked to primary ciliary dyskinesia (PCD), a disorder characterized by chronic respiratory tract infections, infertility, and situs inversus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia | Loss-of-function mutations in RSPH10B2 disrupt radial spoke assembly, impairing ciliary motility. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.2 | Low |
| Brain | 3.1 | Low |
| Heart | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 5.4 | Low expression |
| A549 | 7.1 | Low expression |
| HepG2 | 3.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Premature stop, likely loss of function |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Frameshift, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing radial spoke function and ciliary motility.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cytoskeleton (GO:0005856) | • axoneme (GO:0035082) |
| • cilium (GO:0005929) | • cilium movement (GO:0003341) |
| • protein binding (GO:0005515) |
Pathways
• Cilium assembly (Reactome: R-HSA-5617833)
• Axoneme assembly (Reactome: R-HSA-5620922)
Protein Summary
The RSPH10B2 protein is a component of the radial spoke head in motile cilia. It localizes to the axoneme and interacts with other radial spoke proteins to regulate ciliary beat frequency. The protein contains a conserved radial spoke head domain and is essential for proper ciliary motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RSPH10B2 Knockout HEK293 Cell Line | EDJ-KQ15132 | Human | 728194 | Details Get a Quote |
| RSPH10B2 Knockout HeLa Cell Line | EDJ-KQ60691 | Human | 728194 | Details Get a Quote |
| RSPH10B2 Knockout A-549 Cell Line | EDJ-KQ69164 | Human | 728194 | Details Get a Quote |
| RSPH10B2 Knockout HCT 116 Cell Line | EDJ-KQ77518 | Human | 728194 | Details Get a Quote |
