CFAP20

Chr 16q21

cilia and flagella associated protein 20

Aliases:: GTL3, fSAP23
MANE:: ENST00000262498.8

OMIM: 617906 ↗NCBI: 29105 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CFAP20 · Q9Y6A4

v62025-08-01

Predicted Aligned Error matrix for CFAP20 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.8/ 100

Very high

193 residues

Confidence breakdown

Very high(≥ 90)82%
Confident(70–90)13%
Low(50–70)2%
Very low(< 50)3%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Retinal disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Rod-cone dystrophy
0.38
retinitis pigmentosa
0.37
Hematuria
0.04
gastric ulcer
0.04
hemorrhage
0.04
Microscopic hematuria
0.04
Alzheimer disease
0.03
inherited retinal dystrophy
0.02
ciliopathy
0.02
Retinal dystrophy
0.01

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

Protein function (UniProt)

Cilia- and flagella-associated protein 20

Cilium- and flagellum-specific protein that plays a role in axonemal structure organization and motility (PubMed:24414207). Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). Involved in the regulation of the size and morphology of cilia (PubMed:24414207). Required for axonemal microtubules polyglutamylation (PubMed:24414207)