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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CEP350
centrosomal protein 350
Chromosome 1 · 1q25.2
NCBI Gene: 9857Ensembl: ENSG00000135837.18HGNC: HGNC:24238UniProt: Q5T2X4
98PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmprotein localization to centrosomemembraneciliary basal bodyneurodegenerative diseasesmoking initiationDental malocclusionlysosomal storage disease
✦AI Summary

CEP350 is a centrosomal protein essential for centrosome organization and ciliogenesis. Mechanistically, CEP350 stabilizes procentriolar seeds containing SASS6 and CPAP to enable centriole growth 1. It anchors microtubules to centrosomes and maintains microtubule network integrity 234. CEP350 acts upstream in a hierarchical recruitment pathway with FOP and CEP19 at the distal centriole, directing ciliary vesicle docking and initiating intraflagellar transport complex entry into nascent cilia 45. CEP350 also recruits and stabilizes CEP78, which negatively regulates CP110 to promote ciliogenesis 6. Additionally, CEP350 functions as a centriolar partner of the phosphatase PPP2R3C, which counterbalances MAP3K1 kinase activity to maintain centrosome function 7. Functionally, CEP350 depletion reduces microtubule stability and impairs ciliary assembly 84. Disease relevance includes ciliopathies, microcephaly, and cancer—CEP350 mutations associate with congenital syndromes involving gonadal dysgenesis, and CEP350 functions as a tumor suppressor in BRAF-driven melanoma 79. CEP350 variants also associate with smoking behavior in genome-wide studies 10.

Sources cited
1
CEP350 stabilizes procentriolar seeds composed of SASS6 and CPAP for centriole growth
PMID: 19052644
2
CEP350 required for anchoring microtubules to centrosomes
PMID: 16314388
3
CEP350 required for microtubule network integrity
PMID: 17878239
4
CEP350 cooperates with FOP and CEP19 in ciliogenesis and microtubule anchoring at centrosomes
PMID: 28659385
5
CEP350/FOP complex recruits CEP19 to direct intraflagellar transport complex entry into cilium
PMID: 28625565
6
CEP350 promotes centrosomal recruitment and stability of CEP78 to negatively regulate CP110 and promote ciliogenesis
PMID: 34259627
7
CEP350 is a distal centriole protein and functional partner of PPP2R3C phosphatase; imbalanced CEP350-MAP3K1 activity causes congenital syndromes with gonadal dysgenesis
PMID: 39317195
8
CEP350 depletion decreases microtubule stability
PMID: 28606843
9
CEP350 functions as a tumor suppressor in BRAF-driven melanoma
PMID: 25848750
10
CEP350 variants associate with smoking behavior traits in genome-wide meta-analysis
PMID: 30617275
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.54Moderate
smoking initiationOpen Targets
0.29Weak
Dental malocclusionOpen Targets
0.28Weak
lysosomal storage diseaseOpen Targets
0.26Weak
trigeminal nerve diseaseOpen Targets
0.22Weak
brain aneurysmOpen Targets
0.22Weak
prostate carcinomaOpen Targets
0.22Weak
blood coagulation diseaseOpen Targets
0.09Suggestive
Griscelli diseaseOpen Targets
0.06Suggestive
cystOpen Targets
0.06Suggestive
Griscelli disease type 3Open Targets
0.05Suggestive
Griscelli syndrome type 3Open Targets
0.05Suggestive
uncombable hair syndromeOpen Targets
0.04Suggestive
oculocutaneous albinism type 3Open Targets
0.04Suggestive
Griscelli disease type 1Open Targets
0.04Suggestive
Griscelli syndrome type 1Open Targets
0.04Suggestive
hypotrichosis 8Open Targets
0.03Suggestive
isolated familial wooly hair disorderOpen Targets
0.03Suggestive
Woolly hairOpen Targets
0.03Suggestive
ermine phenotypeOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PPP2R3CProtein interaction89%PCNTProtein interaction85%CYLDProtein interaction83%PHF3Protein interaction78%RABL2BProtein interaction77%CEP43Protein interaction77%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
58%
Brain
53%
Lung
52%
Heart
48%
Liver
35%
Gene Interaction Network
Click a node to explore
CEP350PPP2R3CPCNTCYLDPHF3RABL2BCEP43
PROTEIN STRUCTURE
Preparing viewer…
PDB2COZ · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.40Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.34 [0.28–0.40]
RankingsWhere CEP350 stands among ~20K protein-coding genes
  • #4,869of 20,598
    Most Researched98 · top quartile
  • #2,021of 17,882
    Most Constrained (LOEUF)0.40 · top quartile
Genes detectedCEP350
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The effect of Diosmin on the blood proteome in a rat model of venous thrombosis.
PMID: 28606843
Int J Biol Macromol · 2017
1.00
2
A disease-associated PPP2R3C-MAP3K1 phospho-regulatory module controls centrosome function.
PMID: 39317195
Curr Biol · 2024
0.90
3
CEP19 cooperates with FOP and CEP350 to drive early steps in the ciliogenesis programme.
PMID: 28659385
Open Biol · 2017
0.80
4
CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels.
PMID: 34259627
Elife · 2021
0.70
5
The CEP19-RABL2 GTPase Complex Binds IFT-B to Initiate Intraflagellar Transport at the Ciliary Base.
PMID: 28625565
Dev Cell · 2017
0.60