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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CEP43
centrosomal protein 43
Chromosome 6 · 6q27
NCBI Gene: 11116Ensembl: ENSG00000213066.14HGNC: HGNC:17012UniProt: A0A087WV25
83PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein kinase bindingprotein tyrosine kinase inhibitor activityprotein homodimerization activitycancerleukemiamyelodysplastic syndromeacute lymphoblastic leukemia
✦AI Summary

CEP43 (centrosomal protein 43) is a centrosomal protein essential for ciliary function and microtubule anchoring. Its primary function involves anchoring microtubules to centrosomes, a critical role in maintaining centrosomal architecture 12. CEP43 is also required for ciliation, the process of forming functional cilia 32. Mechanistically, CEP43's N-terminal domain forms a homodimer that anchors to subdistal appendages through direct interaction with CEP350, while its C-terminal domain captures CEP19 above subdistal appendages, positioning it near the distal appendages 4. This positioning facilitates handoff of RabL2 from CEP19 to intraflagellar transport (IFT) complexes for ciliary entry, with CEP43-mediated interactions potentially priming the IFT machinery for ciliary translocation 4. Disease relevance: CEP43 variants have been identified as pathogenic in primary ciliopathies, a diverse group of rare disorders affecting multiple organ systems including the brain, eye, kidney, and skeleton 5. Clinical significance: Network-based genetic analysis identified CEP43 mutations in three previously unsolved ciliopathy cases, establishing it as a previously unrecognized ciliopathy gene and demonstrating its importance in systematic diagnosis of rare genetic diseases 5.

Sources cited
1
CEP43 required for anchoring microtubules to centrosomes
PMID: 16314388
2
CEP43 required for both microtubule anchoring and ciliation
PMID: 28659385
3
CEP43 required for ciliation
PMID: 28625565
4
CEP43 N-terminal domain forms homodimer anchoring subdistal appendages via CEP350; C-terminal domain captures CEP19; structural basis for RabL2 handoff to IFT machinery
PMID: 38991980
5
CEP43 mutations identified as pathogenic in primary ciliopathies affecting brain, eye, kidney, and skeleton; established as previously unrecognized ciliopathy gene
PMID: 41715205
Disease Associationsⓘ20
cancerOpen Targets
0.57Moderate
leukemiaOpen Targets
0.46Moderate
myelodysplastic syndromeOpen Targets
0.46Moderate
acute lymphoblastic leukemiaOpen Targets
0.46Moderate
inflammatory bowel diseaseOpen Targets
0.43Moderate
Crohn's diseaseOpen Targets
0.43Moderate
basal cell carcinomaOpen Targets
0.39Weak
type 2 diabetes mellitusOpen Targets
0.38Weak
chronic myelogenous leukemiaOpen Targets
0.37Weak
hypothyroidismOpen Targets
0.34Weak
lung cancerOpen Targets
0.34Weak
Graves diseaseOpen Targets
0.33Weak
rheumatic diseaseOpen Targets
0.30Weak
response to xenobiotic stimulusOpen Targets
0.30Weak
skin neoplasmOpen Targets
0.30Weak
alcohol drinkingOpen Targets
0.30Weak
ulcerative colitisOpen Targets
0.29Weak
complicationOpen Targets
0.29Weak
Herpes ZosterOpen Targets
0.29Weak
nervous system diseaseOpen Targets
0.29Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
STAT1Protein interaction100%PPP2CAProtein interaction99%CEP19Protein interaction95%ZMYM2Protein interaction92%PPP2R3CProtein interaction89%FGFR1Protein interaction89%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
81%
Ovary
63%
Heart
35%
Lung
30%
Brain
25%
Gene Interaction Network
Click a node to explore
CEP43STAT1PPP2CACEP19ZMYM2PPP2R3CFGFR1
PROTEIN STRUCTURE
Preparing viewer…
PDB2D68 · 1.60 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.16LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.72 [0.46–1.16]
RankingsWhere CEP43 stands among ~20K protein-coding genes
  • #5,720of 20,598
    Most Researched83
  • #12,154of 17,882
    Most Constrained (LOEUF)1.16
Genes detectedCEP43
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Network-based framework for studying etiology and phenotypic diversity in primary ciliopathies.
PMID: 41715205
Genome Biol · 2026
1.00
2
Architecture of RabL2-associated complexes at the ciliary base: A structural modeling perspective: Deciphering the structural organization of ciliary RabL2 complexes.
PMID: 38991980
Bioessays · 2024
0.90
3
rs9459874 and rs1012656 in CCR6/FGFR1OP confer susceptibility to primary biliary cholangitis.
PMID: 34864633
J Autoimmun · 2022
0.80
4
Polymorphisms of the centrosomal gene (FGFR1OP) and lung cancer risk: a meta-analysis of 14,463 cases and 44,188 controls.
PMID: 26905588
Carcinogenesis · 2016
0.70
5
Mutation of FOP/FGFR1OP in mice recapitulates human short rib-polydactyly ciliopathy.
PMID: 29982567
Hum Mol Genet · 2018
0.60