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5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CFAP126
cilia and flagella associated protein 126
Chromosome 1 · 1q23.3
NCBI Gene: 257177Ensembl: ENSG00000188931.5HGNC: HGNC:32325UniProt: Q5VTH2
8PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
axonemal microtubuleciliumciliary basal bodysperm flagellumhereditary pheochromocytoma-paragangliomapheochromocytoma/paraganglioma syndrome 3pheochromocytomabrain cancer
✦AI Summary

CFAP126 (cilia and flagella associated protein 126), also known as Flattop, is a microtubule inner protein component of dynein-decorated doublet microtubules in the ciliary axoneme 1. Primary functions include regulating basal body docking and positioning in multiciliated cells, cilia formation in lung cells, and kinocilium positioning in the inner ear 1. Beyond ciliary biology, CFAP126 serves as a Wnt/planar cell polarity (PCP) pathway effector and marker gene distinguishing proliferation-competent from mature pancreatic β-cells, with its expression increasing during 3D islet maturation 2. The gene can be monitored in human models using CRISPR-engineered reporter iPSC lines to track Wnt/PCP signaling during endocrine development 3. Clinically, CFAP126 mutations have been identified as potential biomarkers in focal cortical dysplasia-related drug-resistant epilepsy 4. A heterozygous nonsense mutation (c.310A>T, p.Lys104*) in CFAP126 has been associated with a novel familial diabetes phenotype responsive to oral sulfonylureas, suggesting the gene's critical role in insulin secretion regulation 5. These findings indicate CFAP126 functions at the intersection of ciliary organization and endocrine cell biology, with implications for neurological and metabolic disease.

Sources cited
1
CFAP126 is a microtubule inner protein of dynein-decorated doublet microtubules in ciliary axoneme
PMID: 36191189
2
CFAP126/Fltp acts as a Wnt/PCP effector and marker distinguishing proliferation-competent from mature β-cells
PMID: 27398620
3
CFAP126 can be tracked via fluorescent reporter systems in human iPSCs for monitoring Wnt/PCP signaling in endocrine development
PMID: 40992249
4
CFAP126 identified as potential biomarker for focal cortical dysplasia-related drug-resistant epilepsy
PMID: 38491953
5
Heterozygous CFAP126 nonsense mutation associated with familial diabetes responsive to sulfonylureas
PMID: 39165147
Disease Associationsⓘ20
hereditary pheochromocytoma-paragangliomaOpen Targets
0.40Moderate
pheochromocytoma/paraganglioma syndrome 3Open Targets
0.33Weak
pheochromocytomaOpen Targets
0.19Weak
brain cancerOpen Targets
0.07Suggestive
psoriasisOpen Targets
0.05Suggestive
osteitis deformansOpen Targets
0.05Suggestive
ependymomaOpen Targets
0.04Suggestive
childhood supratentorial ependymomaOpen Targets
0.03Suggestive
nasopharyngeal neoplasmOpen Targets
0.01Suggestive
fleck corneal dystrophyOpen Targets
0.01Suggestive
prediabetes syndromeOpen Targets
0.01Suggestive
type 2 diabetes mellitusOpen Targets
0.01Suggestive
AnorexiaOpen Targets
0.00Suggestive
diabetes mellitusOpen Targets
0.00Suggestive
Focal cortical dysplasiaOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
small cell lung carcinomaOpen Targets
0.00Suggestive
lung adenocarcinomaOpen Targets
0.00Suggestive
non-small cell lung carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NME7Protein interaction87%TUBA1AProtein interaction86%TUBB4BProtein interaction85%SPACA9Protein interaction85%CFAP45Protein interaction85%RIBC2Protein interaction85%
Tissue Expression6 tissues
Liver
0%
Ovary
0%
Brain
0%
Heart
0%
Lung
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CFAP126NME7TUBA1ATUBB4BSPACA9CFAP45RIBC2
PROTEIN STRUCTURE
Preparing viewer…
PDB7UNG · 3.60 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.59LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.11 [0.79–1.59]
RankingsWhere CFAP126 stands among ~20K protein-coding genes
  • #17,555of 20,598
    Most Researched8
  • #15,628of 17,882
    Most Constrained (LOEUF)1.59
Genes detectedCFAP126
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Analysis of clinical characteristics and histopathological transcription in 40 patients afflicted by epilepsy stemming from focal cortical dysplasia.
PMID: 38491953
Epilepsia Open · 2024
1.00
2
Identification of proliferative and mature β-cells in the islets of Langerhans.
PMID: 27398620
Nature · 2016
0.80
3
Generation of a Flattop-T2A-H2B-Venus x C-peptide-mCherry double reporter human iPSC line to monitor WNT/Planar cell polarity pathway activity.
PMID: 40992249
Stem Cell Res · 2025
0.60
4
Simple and rapid characterization of novel large germline deletions in SDHB, SDHC and SDHD-related paraganglioma.
PMID: 27485256
Clin Genet · 2017
0.40
5
Diabetes and
PMID: 39165147
J Pediatr Endocrinol Metab · 2024
0.20