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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CFAP20
cilia and flagella associated protein 20
Chromosome 16 Β· 16q21
NCBI Gene: 29105Ensembl: ENSG00000070761.9HGNC: HGNC:29523UniProt: Q9Y6A4
78PubMed Papers
20Diseases
0Drugs
5Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleoplasmcentrioleaxonemal microtubuleprotein bindingRod-cone dystrophyretinitis pigmentosaHematuriaMicroscopic hematuria
✦AI Summary

CFAP20 is a ciliary protein with dual roles in axonemal structure and transcription-replication coordination. As a microtubule inner protein within dynein-decorated doublet microtubules, CFAP20 is essential for motile cilia beating and axonemal integrity 1. It regulates cilia size and morphology through its involvement in axonemal microtubule polyglutamylation 2. Beyond cilia, CFAP20 maintains structural integrity of inner junctions in non-motile cilia, influencing sensory signaling 3. Notably, CFAP20 functions in transcription-replication coordination by salvaging arrested RNA polymerase II from replication fork paths, preventing R-loop accumulation and maintaining genome stability 4. CFAP20 cooperates with BROMI, CCRK, and FAM149B1 in regulating intraflagellar transport turnaround at the ciliary tip 5. Clinically, CFAP20 mutations cause retinal dystrophy in both human patients and zebrafish 3, with a homozygous variant (c.337 C>T) identified in autosomal recessive retinitis pigmentosa, suggesting CFAP20 as a candidate retinopathy gene 6. These findings reveal CFAP20 as a multifunctional protein linking ciliary dysfunction to vision loss and genome stability.

Sources cited
1
CFAP20 is a microtubule inner protein in dynein-decorated doublet microtubules required for motile cilia beating
PMID: 36191189
2
CFAP20 plays roles in axonemal structure organization, cilia size/morphology regulation, and axonemal microtubule polyglutamylation
PMID: 24414207
3
CFAP20 maintains structural integrity of inner junctions in non-motile cilia and is required for motile cilia function; mutations cause retinal dystrophy
PMID: 36329026
4
CFAP20 salvages arrested RNAPII from replication fork paths, preventing R-loop accumulation and maintaining genome stability
PMID: 41535461
5
CFAP20 interacts with BROMI, CCRK, and FAM149B1 to regulate intraflagellar transport turnaround at ciliary tip
PMID: 35609210
6
CFAP20 homozygous variant identified in autosomal recessive retinitis pigmentosa; abundantly expressed in retinal photoreceptors
PMID: 35246562
Disease Associationsβ“˜20
Rod-cone dystrophyOpen Targets
0.38Weak
retinitis pigmentosaOpen Targets
0.37Weak
HematuriaOpen Targets
0.05Suggestive
Microscopic hematuriaOpen Targets
0.04Suggestive
gastric ulcerOpen Targets
0.04Suggestive
hemorrhageOpen Targets
0.04Suggestive
ciliopathyOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
respiratory distress syndrome in premature infantsOpen Targets
0.02Suggestive
Retinal dystrophyOpen Targets
0.01Suggestive
cystOpen Targets
0.01Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
retinitis pigmentosa 1Open Targets
0.01Suggestive
ovarian carcinomaOpen Targets
0.01Suggestive
cardiac hypertrophyOpen Targets
0.01Suggestive
Joubert syndromeOpen Targets
0.01Suggestive
retinal degenerationOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
primary ciliary dyskinesiaOpen Targets
0.00Suggestive
Pathogenic Variants5
NM_013242.3(CFAP20):c.305G>A (p.Arg102His)Likely pathogenic
Rod-cone dystrophy
β˜†β˜†β˜†β˜†2022β†’ Residue 102
NM_013242.3(CFAP20):c.257A>G (p.Tyr86Cys)Likely pathogenic
Rod-cone dystrophy
β˜†β˜†β˜†β˜†2022β†’ Residue 86
NM_013242.3(CFAP20):c.397del (p.Gln133fs)Likely pathogenic
Rod-cone dystrophy
β˜†β˜†β˜†β˜†2022β†’ Residue 133
NM_013242.3(CFAP20):c.164+1G>ALikely pathogenic
Rod-cone dystrophy
β˜†β˜†β˜†β˜†2022
NM_013242.3(CFAP20):c.457A>G (p.Arg153Gly)Likely pathogenic
Rod-cone dystrophy
β˜†β˜†β˜†β˜†2022β†’ Residue 153
View on ClinVar β†—
Related Genes
GTF2BProtein interaction100%DR1Protein interaction92%DRAP1Protein interaction92%EFHC2Protein interaction91%EFHC1Protein interaction90%CFAP53Protein interaction89%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
68%
Brain
55%
Liver
43%
Ovary
36%
Lung
24%
Gene Interaction Network
Click a node to explore
CFAP20GTF2BDR1DRAP1EFHC2EFHC1CFAP53
PROTEIN STRUCTURE
Preparing viewer…
PDB7UNG Β· 3.60 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.78LoF Tolerant
pLIβ“˜
0.07Tolerant
Observed/Expected LoF0.47 [0.30–0.78]
RankingsWhere CFAP20 stands among ~20K protein-coding genes
  • #6,056of 20,598
    Most Researched78
  • #3,542of 5,498
    Most Pathogenic Variants5
  • #6,421of 17,882
    Most Constrained (LOEUF)0.78
Genes detectedCFAP20
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision.
PMID: 36329026
Nat Commun Β· 2022
1.00
2
CFAP20 salvages arrested RNAPII from the path of co-directional replisomes.
PMID: 41535461
Nature Β· 2026
0.75
3
BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1.
PMID: 35609210
Mol Biol Cell Β· 2022
0.50
4
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
PMID: 35246562
NPJ Genom Med Β· 2022
0.25