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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CENPE
centromere protein E
Chromosome 4 Β· 4q24
NCBI Gene: 1062Ensembl: ENSG00000138778.15HGNC: HGNC:1856UniProt: Q02224
131PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
microtubule motor activityprotein bindingkinetochore microtubulemicrotubule cytoskeletonSeckel syndromeAbnormality of the skeletal systemTesticular Germ Cell Tumorautosomal recessive primary microcephaly
✦AI Summary

CENPE (centromere protein E) is a microtubule plus-end-directed kinetochore motor protein essential for proper chromosome 4 during mitosis. The protein plays critical roles in chromosome 4, microtubule-kinetochore attachment, and spindle assembly checkpoint activation to prevent aneuploidy 1. CENPE functions by mediating lateral sliding of chr4 along spindle microtubules toward the spindle equator and maintaining stable kinetochore-microtubule connections. Mechanistically, CENPE acts as a processive bi-directional tracker of dynamic microtubule tips and requires its interaction with other checkpoint proteins like BUB1B for proper spindle assembly checkpoint function. Disease relevance is significant, as heterozygous mutations in CENPE cause primary microcephaly 13 23, characterized by reduced brain size due to impaired neural stem cell proliferation and increased apoptosis. Additionally, CENPE is upregulated in multiple cancers including medulloblastoma 4, acute myeloid leukemia 5, and cervical cancer 6, where it promotes tumor progression through cell cycle regulation and p53 pathway modulation. Clinically, CENPE serves as both a prognostic biomarker for various cancers and a potential therapeutic target, with inhibitors having entered clinical trials for cancer treatment 1.

Sources cited
1
CENPE is a mitotic kinesin motor protein and potential cancer drug target with inhibitors in clinical trials
PMID: 22825217
2
Heterozygous CENPE mutations cause primary ovarian insufficiency and are associated with chromosomal fragility
PMID: 36099812
3
CENPE is involved in neurodevelopment and its disruption contributes to microcephaly through impaired neural stem cell function
PMID: 40608414
4
CENPE is upregulated in medulloblastoma and affects tumor progression through cell cycle and p53 pathway regulation
PMID: 37593739
5
CENPE is upregulated in chemotherapy-resistant acute myeloid leukemia and predicts poor prognosis
PMID: 35634845
6
CENPE is overexpressed in cervical cancer and serves as a diagnostic and prognostic biomarker
PMID: 39759304
Disease Associationsβ“˜21
Seckel syndromeOpen Targets
0.69Moderate
Abnormality of the skeletal systemOpen Targets
0.41Moderate
Testicular Germ Cell TumorOpen Targets
0.37Weak
autosomal recessive primary microcephalyOpen Targets
0.37Weak
ovarian dysfunctionOpen Targets
0.33Weak
cervical carcinomaOpen Targets
0.33Weak
testicular diseaseOpen Targets
0.31Weak
testicular carcinomaOpen Targets
0.27Weak
diabetes mellitusOpen Targets
0.26Weak
cardiomyopathyOpen Targets
0.22Weak
diabetic polyneuropathyOpen Targets
0.20Weak
Methicillin-Resistant Staphylococcus Aureus InfectionOpen Targets
0.18Weak
frozen shoulderOpen Targets
0.17Weak
type 2 diabetes mellitusOpen Targets
0.17Weak
temporomandibular joint disorderOpen Targets
0.16Weak
autismOpen Targets
0.11Weak
neurodegenerative diseaseOpen Targets
0.10Weak
Mobius syndromeOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
acute myeloid leukemiaOpen Targets
0.08Suggestive
Microcephaly 13, primary, autosomal recessiveUniProt
Pathogenic Variants5
NM_001813.3(CENPE):c.1403_1404del (p.Glu468fs)Likely pathogenic
Microcephaly 13, primary, autosomal recessive
β˜…β˜†β˜†β˜†2024β†’ Residue 468
NM_001813.3(CENPE):c.885del (p.Leu296fs)Likely pathogenic
Microcephaly 13, primary, autosomal recessive
β˜…β˜†β˜†β˜†2024β†’ Residue 296
NM_001813.3(CENPE):c.2132-1G>CLikely pathogenic
Microcephaly 13, primary, autosomal recessive
β˜…β˜†β˜†β˜†2019
NM_001813.3(CENPE):c.767G>A (p.Cys256Tyr)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2015β†’ Residue 256
NM_001813.3(CENPE):c.2906C>T (p.Ala969Val)Pathogenic
Microcephaly 13, primary, autosomal recessive
β˜…β˜†β˜†β˜†β†’ Residue 969
View on ClinVar β†—
Related Genes
HMMRProtein interaction100%CEP55Protein interaction100%ASPMProtein interaction99%DCTN1Protein interaction99%NUDCProtein interaction99%MELKProtein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
3%
Brain
3%
Ovary
1%
Heart
1%
Liver
1%
Gene Interaction Network
Click a node to explore
CENPEHMMRCEP55ASPMDCTN1NUDCMELK
PROTEIN STRUCTURE
Preparing viewer…
PDB8HFH Β· 1.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.45Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.37 [0.31–0.45]
RankingsWhere CENPE stands among ~20K protein-coding genes
  • #3,550of 20,598
    Most Researched131 Β· top quartile
  • #3,507of 5,498
    Most Pathogenic Variants5
  • #2,518of 17,882
    Most Constrained (LOEUF)0.45 Β· top quartile
Genes detectedCENPE
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly.
PMID: 40608414
J Clin Invest Β· 2025
1.00
2
Primary microcephaly gene CENPE is a novel biomarker and potential therapeutic target for non-WNT/non-SHH medulloblastoma.
PMID: 37593739
Front Immunol Β· 2023
0.90
3
Noninvasive assessment of organ-specific and shared pathways in multi-organ fibrosis using T1 mapping.
PMID: 38806679
Nat Med Β· 2024
0.80
4
Kinesins and cancer.
PMID: 22825217
Nat Rev Cancer Β· 2012
0.70
5
Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.
PMID: 36099812
EBioMedicine Β· 2022
0.60