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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RSPH9
radial spoke head component 9
Chromosome 6 Β· 6p21.1
NCBI Gene: 221421Ensembl: ENSG00000172426.17HGNC: HGNC:21057UniProt: Q9H1X1
23PubMed Papers
21Diseases
0Drugs
21Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
9+2 motile ciliumaxonemeprotein bindingcilium movementprimary ciliary dyskinesiabronchiectasiscombined immunodeficiency with skin granulomasplacenta praevia
✦AI Summary

RSPH9 (radial spoke head component 9) is a critical structural protein essential for motile ciliary function and assembly. RSPH9 functions as a core component of radial spoke complexes in the axonemes of motile cilia, where it plays essential roles in both radial spoke head assembly and central pair microtubule stability 1. The protein is specifically expressed in tissues containing motile cilia and is upregulated during multiciliation 1. RSPH9 is required for proper ciliary beat patterns, as its depletion causes cilia to shift from normal planar beating to abnormal rotational patterns 1. Loss of RSPH9 function leads to severe ciliary defects, including reduced beating amplitude, irregular rotation patterns, and frequent abnormal ectopic ciliary membrane inclusions 2. The protein interacts with other radial spoke head components, including RSPH1 and RSPH4A, forming a hierarchical assembly where RSPH9 can be assembled independently of other head proteins 3. Clinically, RSPH9 mutations cause primary ciliary dyskinesia (PCD), a heterogeneous disorder characterized by chr6 respiratory symptoms, bronchiectasis, and sinusitis 45. RSPH9-deficient patients typically lack situs inversus due to the protein's absence from nodal cilia 5. In severe cases, RSPH9 loss causes neonatal hydrocephalus due to defective ependymal ciliary function 2.

Sources cited
1
RSPH9 is essential for radial spoke head assembly and central pair microtubule stability in ependymal motile cilia
PMID: 30383886
2
RSPH9 deletion causes neonatal hydrocephalus with abnormal ciliary beating patterns and structural defects
PMID: 32709945
3
RSPH9 mutations cause PCD and the protein can assemble independently of other radial spoke head proteins
PMID: 25789548
4
RSPH9 mutations are found in pediatric PCD patients in China with typical respiratory symptoms
PMID: 33577779
5
RSPH9 mutations cause PCD without situs inversus due to absence from nodal cilia
PMID: 35046476
Disease Associationsβ“˜21
primary ciliary dyskinesiaOpen Targets
0.76Strong
bronchiectasisOpen Targets
0.37Weak
combined immunodeficiency with skin granulomasOpen Targets
0.27Weak
placenta praeviaOpen Targets
0.14Weak
metabolic syndromeOpen Targets
0.07Suggestive
attention deficit hyperactivity disorderOpen Targets
0.07Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.05Suggestive
intellectual disability, autosomal recessive 59Open Targets
0.05Suggestive
attention deficit-hyperactivity disorder 8Open Targets
0.05Suggestive
Tourette syndromeOpen Targets
0.05Suggestive
schizophrenia 15Open Targets
0.05Suggestive
autismOpen Targets
0.05Suggestive
HydrocephalusOpen Targets
0.05Suggestive
Phelan-McDermid syndromeOpen Targets
0.04Suggestive
Potocki-Lupski syndromeOpen Targets
0.04Suggestive
X-linked non-syndromic intellectual disabilityOpen Targets
0.03Suggestive
X-linked dominant intellectual disability - epilepsy syndromeOpen Targets
0.03Suggestive
FRAXE intellectual disabilityOpen Targets
0.03Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
Abnormality of the skeletal systemOpen Targets
0.03Suggestive
Ciliary dyskinesia, primary, 12UniProt
Pathogenic Variants21
NM_152732.5(RSPH9):c.801GAA[1] (p.Lys268del)Pathogenic
Primary ciliary dyskinesia 12|Primary ciliary dyskinesia|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 268
NM_152732.5(RSPH9):c.466C>T (p.Arg156Ter)Pathogenic
not provided|Primary ciliary dyskinesia
β˜…β˜…β˜†β˜†2026β†’ Residue 156
NM_152732.5(RSPH9):c.117C>A (p.Tyr39Ter)Pathogenic
Primary ciliary dyskinesia
β˜…β˜…β˜†β˜†2023β†’ Residue 39
NM_152732.5(RSPH9):c.2T>C (p.Met1Thr)Pathogenic
not provided|Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2026β†’ Residue 1
NM_152732.5(RSPH9):c.245G>A (p.Trp82Ter)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025β†’ Residue 82
NM_152732.5(RSPH9):c.228-6T>ALikely pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025
NM_152732.5(RSPH9):c.237C>A (p.Cys79Ter)Likely pathogenic
Combined immunodeficiency with skin granulomas
β˜…β˜†β˜†β˜†2025β†’ Residue 79
NM_152732.5(RSPH9):c.393+2delLikely pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025
NM_152732.5(RSPH9):c.393+1G>ALikely pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025
NM_152732.5(RSPH9):c.800_*71del (p.Glu267fs)Pathogenic
Primary ciliary dyskinesia 12
β˜…β˜†β˜†β˜†2024β†’ Residue 267
NM_152732.5(RSPH9):c.1A>T (p.Met1Leu)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2023β†’ Residue 1
NM_152732.5(RSPH9):c.799G>T (p.Glu267Ter)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2023β†’ Residue 267
NM_152732.5(RSPH9):c.574del (p.Glu192fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2022β†’ Residue 192
NM_152732.5(RSPH9):c.1A>G (p.Met1Val)Pathogenic
Primary ciliary dyskinesia|RSPH9-related disorder
β˜…β˜†β˜†β˜†2022β†’ Residue 1
NM_152732.5(RSPH9):c.523+1G>CLikely pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2020
NM_152732.5(RSPH9):c.200del (p.Gln67fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2018β†’ Residue 67
NM_152732.5(RSPH9):c.283C>T (p.Gln95Ter)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2017β†’ Residue 95
NM_152732.5(RSPH9):c.333T>G (p.Tyr111Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2015β†’ Residue 111
NM_152732.5(RSPH9):c.19del (p.Leu7fs)Likely pathogenic
Primary ciliary dyskinesia 12
β˜…β˜†β˜†β˜†β†’ Residue 7
NM_152732.5(RSPH9):c.244del (p.Trp82fs)Likely pathogenic
Primary ciliary dyskinesia
β˜†β˜†β˜†β˜†2018β†’ Residue 82
View on ClinVar β†—
Related Genes
RPGRProtein interaction100%SPAG1Protein interaction100%DNALI1Protein interaction100%ZMYND10Protein interaction100%DNAAF5Protein interaction100%EIF3HProtein interaction100%
Tissue Expression6 tissues
Brain
100%
Lung
59%
Bone Marrow
58%
Ovary
43%
Heart
34%
Liver
29%
Gene Interaction Network
Click a node to explore
RSPH9RPGRSPAG1DNALI1ZMYND10DNAAF5EIF3H
PROTEIN STRUCTURE
Preparing viewer…
PDB8J07 Β· 4.10 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.32LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.95 [0.70–1.32]
RankingsWhere RSPH9 stands among ~20K protein-coding genes
  • #13,509of 20,598
    Most Researched23
  • #2,169of 5,498
    Most Pathogenic Variants21
  • #13,834of 17,882
    Most Constrained (LOEUF)1.32
Genes detectedRSPH9
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China.
PMID: 33577779
Chest Β· 2021
1.00
2
Motile Ciliary Disorders of the Nasal Epithelium in Adults With Bronchiectasis.
PMID: 36435264
Chest Β· 2023
0.90
3
Rsph9 is critical for ciliary radial spoke assembly and central pair microtubule stability.
PMID: 30383886
Biol Cell Β· 2019
0.80
4
LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility.
PMID: 38091523
Elife Β· 2023
0.70
5
Loss of Rsph9 causes neonatal hydrocephalus with abnormal development of motile cilia in mice.
PMID: 32709945
Sci Rep Β· 2020
0.60