CENPE: Centromere Protein E
A key mitotic kinesin motor protein involved in chromosome alignment and spindle checkpoint signaling
Gene Information Card
| Symbol | CENPE |
|---|---|
| Full Name | Centromere Protein E |
| Gene Type | Protein coding |
| Chromosomal Location | 4q24 |
| NCBI Gene ID | 1062 ncbi.nlm.nih.gov/gene/1062 |
| Ensembl ID | ENSG00000138778 |
| UniProt ID | Q02224 |
| OMIM ID | 117143 |
| HGNC ID | 1856 |
| Aliases | CENP-E, KIF10, MCPH13 |
Description
CENPE encodes centromere protein E, a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. It is essential for chromosome congression and alignment at the metaphase plate, and for the spindle assembly checkpoint by interacting with the mitotic checkpoint complex. Mutations in CENPE are associated with primary microcephaly and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly 13 (MCPH13) | Loss-of-function mutations impair mitotic progression, leading to reduced neuronal progenitor cell proliferation | OMIM #616051 |
| Breast cancer | Overexpression and amplification of CENPE contribute to chromosomal instability and aneuploidy | COSMIC; ClinVar |
| Lung cancer | CENPE upregulation correlates with poor prognosis and resistance to taxane-based chemotherapy | NCBI Gene; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 7.1 | Low |
| Brain | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | High expression; mitotic arrest |
| MCF7 | 10.1 | Moderate; breast cancer line |
| A549 | 9.8 | Moderate; lung cancer line |
| HEK293 | 4.5 | Low; non-mitotic enrichment |
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 MCPH13 |
| c.4570G>A (p.Glu1524Lys) | Missense | Rare | Impaired kinetochore binding; microcephaly |
| c.6941A>G (p.Asn2314Ser) | Missense | Somatic (cancer) | Gain of function; increased mitotic slippage |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein; cause primary microcephaly due to defective mitosis in neural progenitors.
Gain of Function (GOF)
Missense mutations (e.g., p.Asn2314Ser) that enhance motor activity or alter spindle checkpoint; observed in cancers.
Dominant Negative (DN)
Not well documented; some missense variants may interfere with wild-type CENPE function in heterozygous state.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT:2502593 – Mitotic Prometaphase
• REACT:2502595 – Resolution of Sister Chromatid Cohesion
• REACT:2502597 – Mitotic Spindle Checkpoint
• KEGG:04110 – Cell cycle
Protein Summary
Centromere protein E (CENP-E) is a 2701-amino acid kinesin motor protein that localizes to the kinetochore during mitosis. It facilitates chromosome movement along microtubules and is critical for the spindle assembly checkpoint. The protein contains an N-terminal motor domain, a central coiled-coil region, and a C-terminal kinetochore-binding domain. CENP-E is a target for anticancer drug development.
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