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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CFAP100
cilia and flagella associated protein 100
Chromosome 3 Β· 3q21.3
NCBI Gene: 348807Ensembl: ENSG00000163885.13HGNC: HGNC:26842UniProt: Q494V2
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingmicrotubule bindingmicrotubule cytoskeleton organizationmitotic spindle organizationeye diseasehepatitis B virus infectionandrogenetic alopeciaalopecia
✦AI Summary

Based on limited published evidence, CFAP100 regulates ciliary and flagellar motility through inner dynein arm assembly and axonemal organization. Beyond its canonical ciliary role, CFAP100 couples microtubule glutamylation to spindle pole integrity in keratinocytes, essential for proper chromosome 3 and epidermal development 1. CFAP100 interacts with microtubules to promote polymerization; its overexpression stabilizes microtubules but can disorganize microtubule networks and disrupt epithelial cell junctions 2. These findings reveal CFAP100's dual roles in ciliary function and mitotic spindle organization.

Sources cited
1
CFAP100 couples microtubule glutamylation to spindle pole integrity in keratinocytes, maintaining proper chromosome segregation and epidermal development
PMID: 40593606
2
CFAP100 interacts with and promotes microtubule polymerization, with overexpression stabilizing microtubules and disrupting epithelial cell junctions
PMID: 37192300
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
eye diseaseOpen Targets
0.32Weak
hepatitis B virus infectionOpen Targets
0.18Weak
androgenetic alopeciaOpen Targets
0.18Weak
alopeciaOpen Targets
0.04Suggestive
goutOpen Targets
0.03Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.02Suggestive
schizophreniaOpen Targets
0.02Suggestive
breast carcinomaOpen Targets
0.02Suggestive
lung cancerOpen Targets
0.01Suggestive
cervical cancerOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
Mobius syndromeOpen Targets
0.00Suggestive
gliomaOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
ciliopathyOpen Targets
0.00Suggestive
lung adenomaOpen Targets
0.00Suggestive
Neoplasm of the lungOpen Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
respiratory failureOpen Targets
0.00Suggestive
squamous cell carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
TMCC1Protein interaction86%PLXND1Protein interaction86%KLF15Protein interaction86%PODXL2Protein interaction86%CFAP73Shared pathway25%MAP7D3Shared pathway25%
Tissue Expression6 tissues
Lung
100%
Brain
25%
Ovary
22%
Liver
13%
Bone Marrow
1%
Heart
0%
Gene Interaction Network
Click a node to explore
CFAP100TMCC1PLXND1KLF15PODXL2CFAP73MAP7D3
PROTEIN STRUCTURE
Preparing viewer…
PDB8J07 Β· 4.10 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.04LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.85 [0.69–1.04]
RankingsWhere CFAP100 stands among ~20K protein-coding genes
  • #14,382of 20,598
    Most Researched19
  • #10,380of 17,882
    Most Constrained (LOEUF)1.04
Genes detectedCFAP100
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
CFAP100 couples microtubule glutamylation to spindle pole integrity in keratinocytes to promote epidermal development.
PMID: 40593606
Nat Commun Β· 2025
1.00
2
The
PMID: 37192300
Sci Signal Β· 2023
0.50