CEP192: Centrosomal Protein 192
Key regulator of centrosome duplication and spindle assembly
Gene Information Card
| Symbol | CEP192 |
|---|---|
| Full Name | Centrosomal Protein 192 |
| Gene Type | protein-coding |
| Chromosomal Location | 18p11.22 |
| NCBI Gene ID | 55125 ncbi.nlm.nih.gov/gene/55125 |
| Ensembl ID | ENSG00000101639 |
| UniProt ID | Q8TEP8 |
| OMIM ID | 618445 |
| HGNC ID | 25584 |
| Aliases | KIAA1569, MCPH18, PPP1R85 |
Description
CEP192 encodes a centrosomal protein essential for centrosome duplication, maturation, and spindle pole assembly during mitosis. It acts as a scaffold for the recruitment of pericentriolar material (PCM) components, including gamma-tubulin and PLK1, and is critical for proper mitotic spindle formation. Mutations in CEP192 are associated with autosomal recessive primary microcephaly type 18 (MCPH18).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly 18 (MCPH18) | Loss-of-function mutations impair centrosome duplication, leading to reduced neuronal progenitor proliferation | OMIM #618445; PMID: 31031013 |
| Breast cancer | CEP192 overexpression correlates with centrosome amplification and aneuploidy | COSMIC; PMID: 22922874 |
| Ovarian cancer | CEP192 amplification linked to poor prognosis and genomic instability | COSMIC; PMID: 25691885 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.6 | High |
| Lymph node | 18.2 | Medium |
| Brain | 12.1 | Medium |
| Liver | 8.5 | Low |
| Heart | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.4 | Cervical cancer cell line |
| HEK293 | 19.8 | Embryonic kidney |
| MCF7 | 15.3 | Breast cancer cell line |
| U2OS | 14.7 | Osteosarcoma cell line |
| HepG2 | 11.2 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2932C>T (p.Arg978*) | Nonsense | Rare | Loss of function; associated with MCPH18 |
| c.1123A>G (p.Thr375Ala) | Missense | Rare | Likely pathogenic; disrupts centrosomal localization |
| c.4567_4568del (p.Leu1523Valfs*2) | Frameshift | Rare | Loss of function; truncation |
| c.1786G>A (p.Gly596Arg) | Missense | COSMIC | Somatic; found in breast cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg978*, p.Leu1523Valfs*2) cause loss of function, leading to impaired centrosome duplication and microcephaly.
Gain of Function (GOF)
Overexpression or amplification in cancers may confer gain-of-function by promoting centrosome amplification and genomic instability.
Dominant Negative (DN)
Not well documented; missense variants (e.g., p.Thr375Ala) may act in a dominant-negative manner by disrupting PCM recruitment.
View complete mutation data：
Gene Ontology (GO)
| • centrosome | • centrosome duplication |
| • microtubule organizing center | • protein binding |
| • spindle pole | • mitotic cell cycle |
| • cell division |
Pathways
• Centrosome maturation
• Spindle assembly
• Cell cycle
• mitotic
Protein Summary
CEP192 is a 192 kDa centrosomal scaffold protein that localizes to the pericentriolar material. It recruits PLK1 and gamma-tubulin to centrosomes, promoting microtubule nucleation and spindle pole integrity. The protein contains multiple coiled-coil domains and is essential for mitotic progression.
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