RSPH3

Chr 6q25.3

radial spoke head 3

Aliases:: dJ111C20.1, RSP3
MANE:: ENST00000367069.7

OMIM: 615876 ↗NCBI: 83861 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

RSPH3 · Q86UC2

v62025-08-01

Predicted Aligned Error matrix for RSPH3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.6/ 100

Low

560 residues

Confidence breakdown

Very high(≥ 90)23%
Confident(70–90)18%
Low(50–70)19%
Very low(< 50)39%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Primary ciliary disorders
BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism

Disease associations (Open Targets)

primary ciliary dyskinesia
0.75
diabetes mellitus
0.25
vitiligo
0.24
hereditary disease
0.19
psoriasis
0.06
skin disorder
0.06
rheumatoid arthritis
0.04
dermatitis
0.04
atopic eczema
0.04
psoriasis vulgaris
0.04

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

Protein function (UniProt)

Radial spoke head protein 3 homolog

Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia (By similarity). Functions as a protein kinase A-anchoring protein that scaffolds the cAMP-dependent protein kinase holoenzyme. May serve as a point of convergence for MAPK and PKA signaling in cilia (PubMed:19684019)