CEP152: Centrosomal Protein 152 - Key Regulator of Centrosome Duplication and Microcephaly
Comprehensive genomic and clinical overview of CEP152, a centrosomal protein associated with primary microcephaly and Seckel syndrome.
Gene Information Card
| Symbol | CEP152 |
|---|---|
| Full Name | centrosomal protein 152 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q21.1 |
| NCBI Gene ID | 22995 ncbi.nlm.nih.gov/gene/22995 |
| Ensembl ID | ENSG00000103995 |
| UniProt ID | O94986 |
| OMIM ID | 614851 |
| HGNC ID | 29272 |
| Aliases | MCPH4, SCKL5, CEP152, centrosomal protein 152kDa |
Description
CEP152 encodes a centrosomal protein that localizes to the centrosome and is essential for centrosome duplication and mitotic spindle formation. It acts as a scaffold for the recruitment of PLK4 and other centriole duplication factors. Mutations in CEP152 cause autosomal recessive primary microcephaly type 4 (MCPH4) and Seckel syndrome type 5 (SCKL5), characterized by reduced brain size and growth retardation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly 4 (MCPH4) | Loss-of-function mutations impair centrosome duplication, leading to reduced neuronal progenitor cell proliferation and small brain size. | OMIM #614851; PMID: 20601956 |
| Seckel syndrome 5 (SCKL5) | Biallelic mutations disrupt centrosome integrity, causing microcephaly, dwarfism, and intellectual disability. | OMIM #613823; PMID: 20601956 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebral cortex) | 8.2 | Medium |
| Lymph node | 6.1 | Low |
| Liver | 4.3 | Low |
| Heart | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Centrosomal localization confirmed |
| HEK 293 | 8.7 | High expression in embryonic kidney cells |
| U2OS | 7.5 | Osteosarcoma cell line; used in centrosome studies |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2161C>T (p.Arg721*) | Nonsense | Rare | Loss of function; truncation of CEP152 protein |
| c.3340C>T (p.Arg1114*) | Nonsense | Rare | Loss of function; associated with MCPH4 |
| c.4000C>T (p.Arg1334Trp) | Missense | Rare | Likely damaging; disrupts centrosomal localization |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent CEP152 protein, impairing centrosome duplication and causing microcephaly.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; all disease-associated mutations are recessive.
View complete mutation data：
Gene Ontology (GO)
| • centrosome | • centriole replication |
| • mitotic spindle organization | • protein binding |
| • cell cycle |
Pathways
• Centrosome duplication
• Cell cycle
• mitotic
• PLK4-mediated centriole assembly
Protein Summary
CEP152 is a 152 kDa centrosomal scaffold protein that localizes to the centrosome throughout the cell cycle. It interacts with PLK4 and CEP192 to regulate centriole duplication. Loss of CEP152 function leads to centrosome amplification defects and is linked to autosomal recessive microcephaly and Seckel syndrome.
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