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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CEP295
centrosomal protein 295
Chromosome 11 Β· 11q21
NCBI Gene: 85459Ensembl: ENSG00000166004.15HGNC: HGNC:29366UniProt: Q9C0D2
40PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
microtubule bindingcentriole replicationpositive regulation of centrosome duplicationcentrioleSeckel syndrome 11Seckel syndromesmoking initiationadolescent idiopathic scoliosis
✦AI Summary

CEP295 is a centriole-enriched microtubule-binding protein essential for centriole biogenesis and centrosome function 1. During the S/G2 phase of the cell cycle, CEP295 is recruited to procentrioles and mediates distal centriole elongation in a CPAP- and CEP120-dependent manner, acting downstream of the initial cartwheel assembly 1. CEP295 directly interacts with centriolar microtubules and recruits structural proteins including POC1B, POC5, and CEP135 to the distal centriole, while also regulating post-translational modifications such as acetylation and glutamylation of centriolar microtubules 1. The protein functions as a molecular scaffold during centriole-to-centrosome conversion, a maturation process required for centrosome duplication and pericentriolar material organization 2. Loss-of-function mutations in CEP295 cause Seckel-like syndrome characterized by primary microcephaly, developmental delay, intellectual disability, short stature, and craniofacial abnormalities 3. Mechanistically, CEP295 depletion reduces centriole and centrosome numbers, triggers p53-dependent cell cycle arrest, and causes primary ciliary defects 3. CEP295 has also been identified as a candidate gene in broader ciliopathy cohorts 4, suggesting roles in ciliogenesis beyond centrosome function.

Sources cited
1
CEP295 is required for distal centriole elongation, recruits distal proteins (POC1B, POC5), directly interacts with microtubules, and regulates centriolar microtubule post-translational modifications
PMID: 27185865
2
CEP295 (Ana1) functions as a molecular strut in centriole-to-centrosome conversion, essential for loading Asterless/Cep152 onto daughter centrioles during mitosis
PMID: 26595382
3
Bi-allelic CEP295 variants cause Seckel-like syndrome with microcephaly, developmental delay, and craniofacial abnormalities; CEP295 loss reduces centrioles/centrosomes, triggers p53-dependent G1 arrest, and causes ciliary defects
PMID: 38154379
4
CEP295 is proposed as a novel candidate gene in ciliopathies based on patient cohort analysis
PMID: 32055034
5
CEP295 locus identified in gene-based GWAS meta-analysis associated with BMI
PMID: 26376864
Disease Associationsβ“˜21
Seckel syndrome 11Open Targets
0.59Moderate
Seckel syndromeOpen Targets
0.37Weak
smoking initiationOpen Targets
0.23Weak
adolescent idiopathic scoliosisOpen Targets
0.22Weak
gestational diabetesOpen Targets
0.11Weak
Meckel syndromeOpen Targets
0.11Weak
Gorham-Stout diseaseOpen Targets
0.07Suggestive
azoospermiaOpen Targets
0.07Suggestive
partial chromosome Y deletionOpen Targets
0.05Suggestive
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.05Suggestive
synovium disorderOpen Targets
0.05Suggestive
spermatogenic failure 3Open Targets
0.05Suggestive
spermatogenic failure 55Open Targets
0.05Suggestive
spermatogenic failure 61Open Targets
0.05Suggestive
spermatogenic failure 62Open Targets
0.05Suggestive
spermatogenic failure 88Open Targets
0.05Suggestive
spermatogenic failure 59Open Targets
0.05Suggestive
spermatogenic failure 60Open Targets
0.05Suggestive
spermatogenic failure 73Open Targets
0.05Suggestive
spermatogenic failure 74Open Targets
0.05Suggestive
Seckel syndrome 11UniProt
Pathogenic Variants5
NM_033395.2(CEP295):c.4629del (p.Glu1544fs)Likely pathogenic
Seckel syndrome 11
β˜…β˜†β˜†β˜†2024β†’ Residue 1544
NM_033395.2(CEP295):c.4558C>T (p.Arg1520Ter)Pathogenic
Seckel syndrome 11
β˜†β˜†β˜†β˜†2024β†’ Residue 1520
NM_033395.2(CEP295):c.1685C>T (p.Pro562Leu)Pathogenic
Seckel syndrome 11
β˜†β˜†β˜†β˜†2024β†’ Residue 562
NM_033395.2(CEP295):c.163_164del (p.Arg55fs)Pathogenic
Seckel syndrome 11
β˜†β˜†β˜†β˜†2024β†’ Residue 55
NM_033395.2(CEP295):c.1630C>T (p.Gln544Ter)Pathogenic
Seckel syndrome 11
β˜†β˜†β˜†β˜†2024β†’ Residue 544
View on ClinVar β†—
Related Genes
SASS6Protein interaction100%PLK4Protein interaction99%CCP110Protein interaction94%CEP152Protein interaction94%CEP192Protein interaction94%CCDC14Protein interaction94%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
28%
Heart
28%
Lung
20%
Brain
19%
Liver
13%
Gene Interaction Network
Click a node to explore
CEP295SASS6PLK4CCP110CEP152CEP192CCDC14
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9C0D2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.73LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.64 [0.56–0.73]
RankingsWhere CEP295 stands among ~20K protein-coding genes
  • #10,146of 20,598
    Most Researched40
  • #3,595of 5,498
    Most Pathogenic Variants5
  • #5,746of 17,882
    Most Constrained (LOEUF)0.73
Genes detectedCEP295
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The morbid genome of ciliopathies: an update.
PMID: 32055034
Genet Med Β· 2020
1.00
2
CEP295 interacts with microtubules and is required for centriole elongation.
PMID: 27185865
J Cell Sci Β· 2016
0.90
3
Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities.
PMID: 38154379
EBioMedicine Β· 2024
0.80
4
CEP44 ensures the formation of bona fide centriole wall, a requirement for the centriole-to-centrosome conversion.
PMID: 32060285
Nat Commun Β· 2020
0.70
5
9-fold symmetry is not essential for centriole elongation and formation of new centriole-like structures.
PMID: 38796459
Nat Commun Β· 2024
0.60