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GeneE
10 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.
CEP97
centrosomal protein 97
Chromosome 3 Β· 3q12.3
NCBI Gene: 79598Ensembl: ENSG00000182504.12HGNC: HGNC:26244UniProt: A0A994J4L0
78PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingregulation of mitotic spindle assemblynegative regulation of cilium assemblycentrosomeneurodegenerative diseaseIntellectual disabilityGlobal developmental delayCOVID-19
✦AI Summary

CEP97 is a centrosomal protein that functions as a key negative regulator of ciliogenesis by capping the mother centriole and preventing cilia formation in collaboration with CP110 1. CEP97 is required for CP110 recruitment to the centrosome 1. Mechanistically, CEP97 does not directly bind microtubules but works with CP110 to control slow, processive microtubule elongation at centriolar distal ends 2. During ciliogenesis initiation, CEP97 must be removed from the mother centriole through ubiquitin-proteasome degradation via the cullin-3-RBX1-KCTD10 E3 ligase complex 3. CEP97 removal is facilitated by centriolar satellites and depends on Dyrk1a-mediated phosphorylation, which recruits Plk1 to promote centriole disengagement 45. Beyond ciliogenesis, CEP97 participates in aggresome assembly at the centrosome alongside CP110 and CEP290, supporting cellular proteostasis and aggregation of disease-relevant proteins like mutant huntingtin 6. CEP97 dysfunction contributes to ciliopathies through impaired ciliary assembly and trafficking 7. Glucocorticoid signaling regulates CEP97 expression in renal tubules, linking its function to kidney development 8. These findings establish CEP97 as a multifunctional regulator coordinating centriole dynamics, ciliogenesis, and protein quality control.

Sources cited
1
CEP97 is a key negative regulator of ciliogenesis that caps the mother centriole and is required for CP110 recruitment
PMID: 17719545
2
CEP97 works with CP110 to control slow microtubule elongation at centriolar distal ends without directly binding microtubules
PMID: 39847124
3
CEP97 is degraded by the cullin-3-RBX1-KCTD10 E3 ligase complex during ciliogenesis initiation
PMID: 30404837
4
Dyrk1a phosphorylates CEP97 to promote centriole disengagement through Plk1 and Separase in multiciliated cells
PMID: 34787650
5
CEP97 removal from the mother centriole is facilitated by centriolar satellites during early ciliogenesis
PMID: 36790165
6
CEP97 participates in aggresome assembly with CP110 and CEP290, supporting proteostasis and huntingtin aggregation
PMID: 35411088
7
CEP97 dysfunction contributes to ciliopathies through impaired ciliary assembly and intraflagellar transport
PMID: 41105778
8
Glucocorticoid signaling regulates CEP97 expression in renal tubule ciliogenesis
PMID: 40247090
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.48Moderate
Global developmental delayOpen Targets
0.27Weak
Intellectual disabilityOpen Targets
0.27Weak
COVID-19Open Targets
0.17Weak
major depressive disorderOpen Targets
0.11Weak
age-related macular degenerationOpen Targets
0.08Suggestive
neural tube defects, folate-sensitiveOpen Targets
0.05Suggestive
anencephaly 1Open Targets
0.05Suggestive
Isolated anencephaly/exencephalyOpen Targets
0.05Suggestive
Spina bifida - hypospadiasOpen Targets
0.05Suggestive
spina bifida-hypospadias syndromeOpen Targets
0.05Suggestive
multiple sclerosisOpen Targets
0.04Suggestive
anophthalmia plus syndromeOpen Targets
0.04Suggestive
anencephaly 2Open Targets
0.04Suggestive
systemic lupus erythematosusOpen Targets
0.03Suggestive
ulcerative colitisOpen Targets
0.03Suggestive
microphthalmia, isolated, with coloboma 5Open Targets
0.03Suggestive
adverse effectOpen Targets
0.03Suggestive
response to stimulusOpen Targets
0.03Suggestive
placenta praeviaOpen Targets
0.03Suggestive
Pathogenic Variants1
NM_024548.4(CEP97):c.1148A>G (p.His383Arg)Likely pathogenic
Global developmental delay;Intellectual disability
β˜…β˜†β˜†β˜†β†’ Residue 383
View on ClinVar β†—
Related Genes
NDUFV1Protein interaction100%NDUFS8Protein interaction100%NDUFS2Protein interaction100%KIF24Protein interaction95%CEP290Protein interaction87%NEURL4Protein interaction86%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
93%
Heart
38%
Ovary
36%
Lung
23%
Liver
17%
Gene Interaction Network
Click a node to explore
CEP97NDUFV1NDUFS8NDUFS2KIF24CEP290NEURL4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8IW35
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.85LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.64 [0.48–0.85]
RankingsWhere CEP97 stands among ~20K protein-coding genes
  • #6,055of 20,598
    Most Researched78
  • #4,969of 5,498
    Most Pathogenic Variants1
  • #7,323of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedCEP97
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Aggresome assembly at the centrosome is driven by CP110-CEP97-CEP290 and centriolar satellites.
PMID: 35411088
Nat Cell Biol Β· 2022
1.00
2
Centriolar satellites expedite mother centriole remodeling to promote ciliogenesis.
PMID: 36790165
Elife Β· 2023
0.90
3
CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.
PMID: 41105778
Sci Adv Β· 2025
0.80
4
Centriolar cap proteins CP110 and CPAP control slow elongation of microtubule plus ends.
PMID: 39847124
J Cell Biol Β· 2025
0.70
5
Centriole distal-end proteins CP110 and Cep97 influence centriole cartwheel growth at the proximal end.
PMID: 35707992
J Cell Sci Β· 2022
0.60