RSPH4A Gene
Radial Spoke Head Component 4A
Gene Information Card
| Symbol | RSPH4A |
|---|---|
| Full Name | Radial Spoke Head Component 4A |
| Gene Type | Protein coding |
| Chromosomal Location | 6q22.1 |
| NCBI Gene ID | 345895 ncbi.nlm.nih.gov/gene/345895 |
| Ensembl ID | ENSG00000111834 |
| UniProt ID | Q5TD94 |
| OMIM ID | 612647 |
| HGNC ID | 21558 |
| Aliases | RSPH4, CILD11, dJ412I7.1 |
Description
RSPH4A 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 11 (CILD11), characterized by respiratory tract infections, infertility, and situs inversus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 11 (CILD11) | Loss-of-function mutations disrupt radial spoke assembly, impairing ciliary beat frequency and mucociliary clearance. | OMIM #612649; ClinVar pathogenic variants |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.2 | Low |
| Trachea | 7.1 | Low |
| Fallopian tube | 6.8 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 5.3 | Ciliated epithelial model |
| BEAS-2B | 4.1 | Bronchial epithelial |
| A549 | 2.8 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.921C>A (p.Tyr307*) | Nonsense | Rare | Loss of function; truncation of radial spoke head protein |
| c.1393C>T (p.Arg465*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.166_167insA (p.Thr56Asnfs*2) | Frameshift | Rare | Loss of function; frameshift leading to early termination |
Mutation functional classification
Loss of Function (LOF)
Most reported RSPH4A mutations are loss-of-function (nonsense, frameshift, splice-site), leading to truncated or absent protein, disrupting radial spoke head assembly and ciliary motility.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • cytoskeleton (GO:0005856) | • cilium (GO:0005929) |
| • axoneme (GO:0035082) | • epithelial cilium movement (GO:0003351) |
| • cilium movement (GO:0003341) |
Pathways
• Motile cilia assembly (Reactome: R-HSA-5617833)
• Cilium assembly (KEGG: hsa04550)
Protein Summary
RSPH4A is a 717-amino acid protein localized to the radial spoke head of motile cilia axonemes. It interacts with other radial spoke components (e.g., RSPH9, RSPH1) to regulate ciliary beat frequency and waveform. Loss of function leads to primary ciliary dyskinesia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RSPH4A Knockout HEK293 Cell Line | EDJ-KQ15131 | Human | 345895 | Details Get a Quote |
| RSPH4A Knockout HeLa Cell Line | EDJ-KQ59792 | Human | 345895 | Details Get a Quote |
| RSPH4A Knockout A-549 Cell Line | EDJ-KQ68260 | Human | 345895 | Details Get a Quote |
| RSPH4A Knockout HCT 116 Cell Line | EDJ-KQ76637 | Human | 345895 | Details Get a Quote |
