AlphaFold predicted structure
RSPH4A · Q5TD94
Mean pLDDT
67.4/ 100
Low
716 residues
Confidence breakdown
- Very high(≥ 90)29%
- Confident(70–90)25%
- Low(50–70)9%
- Very low(< 50)37%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
RSPH4A
Chr 6q22.1radial spoke head component 4A
- Aliases:
- dJ412I7.1, FLJ37974, RSPH6B, CILD11
- MANE:
- ENST00000229554.10
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomalPrimary ciliary disorders
BIALLELIC, autosomal or pseudoautosomalRespiratory ciliopathies including non-CF bronchiectasis
BIALLELIC, autosomal or pseudoautosomalDuctal plate malformation
BIALLELIC, autosomal or pseudoautosomalFamilial pulmonary fibrosis
Laterality disorders and isomerism
Non-CF bronchiectasis
UnknownRare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
primary ciliary dyskinesia
0.77bronchiectasis
0.37otitis media
0.37short stature due to GHSR deficiency
0.37deafness
0.37Decreased body weight
0.37sinusitis
0.37Short stature
0.37Nasal congestion
0.37rhinitis
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Radial spoke head protein 4 homolog A
Component of the axonemal radial spoke head which plays an important role in ciliary motility (PubMed:19200523). Essential for triplet radial spokes (RS1, RS2 and RS3) head assembly in the motile cilia (By similarity)
Diseases associated with RSPH4A
Curated MONDO disease pages that list RSPH4A among their top associated genes.