RSPH9

Chr 6p21.1

radial spoke head component 9

Aliases:: FLJ30845, CILD12
MANE:: ENST00000372163.5

OMIM: 612648 ↗NCBI: 221421 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

RSPH9 · Q9H1X1

v62025-08-01

Predicted Aligned Error matrix for RSPH9 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.9/ 100

Very high

276 residues

Confidence breakdown

Very high(≥ 90)79%
Confident(70–90)20%
Low(50–70)1%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Primary ciliary disorders
BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis
BIALLELIC, autosomal or pseudoautosomal
Ductal plate malformation
BIALLELIC, autosomal or pseudoautosomal
Familial pulmonary fibrosis
Laterality disorders and isomerism
Non-CF bronchiectasis
Rare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

primary ciliary dyskinesia
0.76
bronchiectasis
0.37
combined immunodeficiency with skin granulomas
0.27
urolithiasis
0.16
alcohol drinking
0.16
placenta praevia
0.16
metabolic syndrome
0.07
behavioral variant of frontotemporal dementia
0.07
frontotemporal dementia with motor neuron disease
0.07
genetic developmental and epileptic encephalopathy
0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Radial spoke head protein 9 homolog

Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia (PubMed:19200523). Essential for both the radial spoke head assembly and the central pair microtubule stability in ependymal motile cilia (By similarity). Required for motility of olfactory and neural cilia and for the structural integrity of ciliary axonemes in both 9+0 and 9+2 motile cilia (By similarity)