RSPH10B Gene - Radial Spoke Head Component 10B
Genetic and functional insights into RSPH10B, a ciliary protein gene.
Gene Information Card
| Symbol | RSPH10B |
|---|---|
| Full Name | Radial Spoke Head Component 10B |
| Gene Type | protein-coding |
| Chromosomal Location | 7p22.1 |
| NCBI Gene ID | 100130274 ncbi.nlm.nih.gov/gene/100130274 |
| Ensembl ID | ENSG00000205562 |
| UniProt ID | Q8N0Z9 |
| OMIM ID | 618533 |
| HGNC ID | 33869 |
| Aliases | RSPH10B2, RSPH10B1, dJ1033B10.2 |
Description
RSPH10B encodes a component of the radial spoke head in motile cilia. Radial spokes are essential for ciliary motility, and defects in this gene are associated with primary ciliary dyskinesia (PCD). The protein localizes to the axoneme and interacts with other radial spoke proteins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia | Loss-of-function mutations in RSPH10B disrupt radial spoke assembly, impairing ciliary beat frequency and mucociliary clearance. | ClinVar, OMIM |
| Situs Inversus | Ciliary dysfunction can lead to randomization of left-right body asymmetry, though specific RSPH10B variants are rarely reported. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Lung | 8.1 | Low |
| Brain | 5.4 | Low |
| Heart | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HAP1 | 15.0 | CRISPR knockout model |
| HeLa | 6.5 | RNA-seq |
| A549 | 7.8 | Lung epithelial line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34*) | Nonsense | <0.01% | Loss of function, predicted nonsense-mediated decay |
| c.245_246del (p.Glu82Valfs*5) | Frameshift | <0.01% | Loss of function, truncated protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants lead to truncated or absent protein, impairing radial spoke assembly.
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) | • cilium (GO:0005929) |
| • cilium axoneme (GO:0035085) | • cilium movement (GO:0003341) |
| • protein binding (GO:0005515) |
Pathways
• Ciliary motility (REACT: R-HSA-5620920)
• Axoneme assembly (REACT: R-HSA-5620912)
Protein Summary
RSPH10B is a 267-amino acid protein containing a conserved radial spoke head domain. It is part of the radial spoke complex that links the central pair microtubules to the outer doublets in motile cilia. The protein is essential for proper ciliary waveform and frequency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RSPH10B Knockout HEK293 Cell Line | EDJ-KQ9139 | Human | 222967 | Details Get a Quote |
| RSPH10B2 Knockout HEK293 Cell Line | EDJ-KQ15132 | Human | 728194 | Details Get a Quote |
| RSPH10B Knockout HeLa Cell Line | EDJ-KQ59205 | Human | 222967 | Details Get a Quote |
| RSPH10B2 Knockout HeLa Cell Line | EDJ-KQ60691 | Human | 728194 | Details Get a Quote |
| RSPH10B Knockout A-549 Cell Line | EDJ-KQ67672 | Human | 222967 | Details Get a Quote |
| RSPH10B2 Knockout A-549 Cell Line | EDJ-KQ69164 | Human | 728194 | Details Get a Quote |
| RSPH10B Knockout HCT 116 Cell Line | EDJ-KQ76058 | Human | 222967 | Details Get a Quote |
| RSPH10B2 Knockout HCT 116 Cell Line | EDJ-KQ77518 | Human | 728194 | Details Get a Quote |
