HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CEP152
centrosomal protein 152
Chromosome 15 · 15q21.1
NCBI Gene: 22995Ensembl: ENSG00000103995.14HGNC: HGNC:29298UniProt: O94986
80PubMed Papers
22Diseases
0Drugs
142Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein kinase bindingcentriole replicationcentrosome duplicationSeckel syndrome 5microcephaly 9, primary, autosomal recessiveautosomal recessive primary microcephalySeckel syndrome
✦AI Summary

CEP152 (centrosomal protein 152) is a critical scaffolding protein essential for centrosome duplication and centriole biogenesis. As a primary function, CEP152 acts as a molecular scaffold that facilitates the recruitment and activation of PLK4 (Polo-like kinase 4), a key regulator of centriole duplication 1. CEP152 cooperates with CEP192 to recruit PLK4 to centrioles, with both proteins being necessary for PLK4 localization and centriole duplication 2. Mechanistically, CEP152 binding to PLK4 increases phosphorylation and kinase activation, controlling both the localization and levels of phosphorylated PLK4 at the proximal end of centrioles 1. CEP152 develops complex organizational patterns during centriole maturation, creating flexibility for PLK4 and procentriole placement 3. The protein forms complexes with CEP57 and CEP63, which are regulated by APC/C-mediated ubiquitylation during mitosis to control spindle assembly 4. Disease relevance includes associations with primary microcephaly and Seckel syndrome, reflecting its critical role in proper cell division. Clinically, mutations in CEP152 disrupt centrosome function, leading to neurodevelopmental disorders characterized by reduced brain size due to impaired neuronal proliferation during development.

Sources cited
1
CEP152 binding to PLK4 increases phosphorylation and kinase activation, controlling PLK4 localization at centrioles
PMID: 40372713
2
CEP152 and CEP192 cooperate in PLK4 recruitment to centrioles and are both necessary for centriole duplication
PMID: 23641073
3
CEP152 develops complex organizational patterns during centriole maturation, creating flexibility for PLK4 and procentriole placement
PMID: 37707473
4
APC/C-mediated ubiquitylation of CEP152 releases CEP57 from inhibitory complexes to enable spindle assembly
PMID: 34878135
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ22
Seckel syndrome 5Open Targets
0.74Strong
microcephaly 9, primary, autosomal recessiveOpen Targets
0.69Moderate
autosomal recessive primary microcephalyOpen Targets
0.62Moderate
Seckel syndromeOpen Targets
0.52Moderate
neurodegenerative diseaseOpen Targets
0.51Moderate
genetic disorderOpen Targets
0.42Moderate
Primary microcephalyOpen Targets
0.37Weak
developmental disorder of mental healthOpen Targets
0.37Weak
microcephaly with or without short statureOpen Targets
0.37Weak
Marfan syndromeOpen Targets
0.33Weak
neuroendocrine neoplasmOpen Targets
0.32Weak
aneurysmOpen Targets
0.06Suggestive
uterine disorderOpen Targets
0.03Suggestive
tooth diseaseOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.01Suggestive
lung carcinomaOpen Targets
0.01Suggestive
medulloblastomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
gliomaOpen Targets
0.01Suggestive
Microcephaly 9, primary, autosomal recessiveUniProt
Seckel syndrome 5UniProt
Pathogenic Variants142
NM_001194998.2(CEP152):c.1155del (p.Thr386fs)Pathogenic
Microcephaly 9, primary, autosomal recessive|not provided
★★☆☆2026→ Residue 386
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)Pathogenic
Microcephaly 9, primary, autosomal recessive|not provided|Microcephaly 9, primary, autosomal recessive;Seckel syndrome 5|Seckel syndrome 5|Inborn genetic diseases|CEP152-related disorder
★★☆☆2026→ Residue 678
NM_001194998.2(CEP152):c.1908+1G>TLikely pathogenic
not provided|Microcephaly 9, primary, autosomal recessive;Seckel syndrome 5
★★☆☆2025
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro)Pathogenic
Microcephaly 9, primary, autosomal recessive|CEP152-related disorder|not provided|Microcephaly 9, primary, autosomal recessive;Seckel syndrome 5
★★☆☆2025→ Residue 265
NM_001194998.2(CEP152):c.467dup (p.Gln157fs)Pathogenic
not provided|Microcephaly 9, primary, autosomal recessive|Seckel syndrome 5;Microcephaly 9, primary, autosomal recessive
★★☆☆2025→ Residue 157
NM_001194998.2(CEP152):c.3249del (p.Val1084fs)Pathogenic
not provided|Microcephaly 9, primary, autosomal recessive|CEP152-related disorder
★★☆☆2025→ Residue 1084
NM_001194998.2(CEP152):c.1578-1G>ALikely pathogenic
not provided|CEP152-related disorder
★★☆☆2025
NM_001194998.2(CEP152):c.2598G>A (p.Trp866Ter)Pathogenic
not provided
★★☆☆2025→ Residue 866
NM_001194998.2(CEP152):c.799C>T (p.Arg267Ter)Pathogenic
not provided|Microcephaly 9, primary, autosomal recessive;Seckel syndrome 5
★★☆☆2025→ Residue 267
NM_001194998.2(CEP152):c.3925C>T (p.Arg1309Ter)Pathogenic
not provided|Microcephaly 9, primary, autosomal recessive;Seckel syndrome 5
★★☆☆2025→ Residue 1309
NM_001194998.2(CEP152):c.903_904del (p.Glu301fs)Pathogenic
not provided|Seckel syndrome 5;Microcephaly 9, primary, autosomal recessive
★★☆☆2024→ Residue 301
NM_001194998.2(CEP152):c.343C>T (p.Arg115Ter)Pathogenic
Seckel syndrome 5|not provided|Seckel syndrome 5;Microcephaly 9, primary, autosomal recessive
★★☆☆2024→ Residue 115
NM_001194998.2(CEP152):c.2318G>A (p.Trp773Ter)Pathogenic
not provided|Seckel syndrome 5;Microcephaly 9, primary, autosomal recessive
★★☆☆2024→ Residue 773
NM_001194998.2(CEP152):c.2034_2036del (p.Tyr678_Gln679delinsTer)Pathogenic
Microcephaly 9, primary, autosomal recessive;Seckel syndrome 5|not provided
★★☆☆2024→ Residue 678
NM_001194998.2(CEP152):c.527G>A (p.Trp176Ter)Pathogenic
not provided|Microcephaly 9, primary, autosomal recessive;Seckel syndrome 5
★★☆☆2024→ Residue 176
NM_001194998.2(CEP152):c.1613C>G (p.Ser538Ter)Pathogenic
not provided|Microcephaly 9, primary, autosomal recessive;Seckel syndrome 5
★★☆☆2024→ Residue 538
NM_001194998.2(CEP152):c.3172del (p.Gln1058fs)Pathogenic
not provided|CEP152-related disorder|Microcephaly 9, primary, autosomal recessive;Seckel syndrome 5
★★☆☆2024→ Residue 1058
NM_001194998.2(CEP152):c.540+1G>APathogenic
not provided|Microcephaly 9, primary, autosomal recessive
★★☆☆2024
NM_001194998.2(CEP152):c.3212del (p.Leu1071fs)Pathogenic
Microcephaly 9, primary, autosomal recessive|not provided|CEP152-related disorder
★★☆☆2024→ Residue 1071
NM_001194998.2(CEP152):c.2038C>T (p.Gln680Ter)Pathogenic
not provided
★★☆☆2024→ Residue 680
View on ClinVar ↗
Related Genes
PCNTProtein interaction97%STILProtein interaction97%CEP135Protein interaction97%CPAPProtein interaction97%CEP295Protein interaction94%PLK1Protein interaction91%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
9%
Lung
8%
Heart
5%
Brain
4%
Liver
4%
Gene Interaction Network
Click a node to explore
CEP152PCNTSTILCEP135CPAPCEP295PLK1
PROTEIN STRUCTURE
Preparing viewer…
PDB6CSU · 2.50 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.78LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.67 [0.58–0.78]
RankingsWhere CEP152 stands among ~20K protein-coding genes
  • #5,932of 20,598
    Most Researched80
  • #534of 5,498
    Most Pathogenic Variants142 · top 10%
  • #6,435of 17,882
    Most Constrained (LOEUF)0.78
Genes detectedCEP152
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Centrosomal organization of Cep152 provides flexibility in Plk4 and procentriole positioning.
PMID: 37707473
J Cell Biol · 2023
1.00
2
Building a centriole.
PMID: 23199753
Curr Opin Cell Biol · 2013
0.90
3
Human Cep192 and Cep152 cooperate in Plk4 recruitment and centriole duplication.
PMID: 23641073
J Cell Sci · 2013
0.80
4
Cep57 regulates human centrosomes through multivalent interactions.
PMID: 38857398
Proc Natl Acad Sci U S A · 2024
0.70
5
Binding of CEP152 to PLK4 stimulates kinase activity to promote centriole assembly.
PMID: 40372713
Mol Biol Cell · 2025
0.60