RSPH6A Gene: Radial Spoke Head Component 6A
Key player in ciliary motility and potential implications in primary ciliary dyskinesia
Gene Information Card
| Symbol | RSPH6A |
|---|---|
| Full Name | Radial Spoke Head Component 6A |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 146713 ncbi.nlm.nih.gov/gene/146713 |
| Ensembl ID | ENSG00000167658 |
| UniProt ID | Q8IY22 |
| OMIM ID | 618548 |
| HGNC ID | 26267 |
| Aliases | RSPH6, CILD38, dJ412I7.1 |
Description
RSPH6A 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) type 38, characterized by respiratory tract infections, infertility, and situs inversus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 38 (CILD38) | Loss-of-function mutations disrupt radial spoke assembly, impairing ciliary motility | OMIM #618548; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Trachea | 8.2 | Low |
| Lung | 5.1 | Low |
| Fallopian tube | 4.8 | Low |
| Brain (cerebellum) | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 0.5 | Low ciliary expression |
| HeLa | 0.2 | Not detected |
| BEAS-2B | 1.1 | Low |
| Calu-3 | 2.3 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.226C>T (p.Arg76*) | Nonsense | Rare | Loss of function |
| c.1042_1043del (p.Leu348Glufs*2) | Frameshift | Rare | Loss of function |
| c.1555G>A (p.Gly519Arg) | Missense | Rare | Likely damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein, disrupting radial spoke head assembly and ciliary motility.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • cytoskeleton (GO:0005856) | • cilium (GO:0005929) |
| • axoneme (GO:0035082) | • protein binding (GO:0005515) |
| • epithelial cilium movement involved in extracellular fluid movement (GO:0003351) |
Pathways
• Ciliary motility (Reactome: R-HSA-5620924)
• Axoneme assembly (Reactome: R-HSA-5620916)
Protein Summary
RSPH6A is a 548-amino acid protein localized to the radial spoke head of motile cilia. It interacts with other radial spoke components to regulate ciliary beat frequency and waveform. Defects in this protein cause primary ciliary dyskinesia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RSPH6A Knockout HEK293 Cell Line | EDJ-KQ9697 | Human | 81492 | Details Get a Quote |
| RSPH6A Knockout HeLa Cell Line | EDJ-KQ57389 | Human | 81492 | Details Get a Quote |
| RSPH6A Knockout A-549 Cell Line | EDJ-KQ65895 | Human | 81492 | Details Get a Quote |
| RSPH6A Knockout HCT 116 Cell Line | EDJ-KQ74321 | Human | 81492 | Details Get a Quote |
