HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
27 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.
PLK4
polo like kinase 4
Chromosome 4 Β· 4q28.1
NCBI Gene: 10733Ensembl: ENSG00000142731.12HGNC: HGNC:11397UniProt: O00444
164PubMed Papers
21Diseases
3Drugs
34Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneKinase
RESEARCH IMPACT
Trending
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cilium assemblyprocentrioleprotein serine/threonine kinase activityprotein bindingSeckel syndromeneurodegenerative diseasePrimary microcephalyautosomal recessive primary microcephaly
✦AI Summary

PLK4 is a serine/threonine kinase that serves as the master regulator of centriole duplication, orchestrating the formation of procentrioles on parental centrioles through recruitment of essential biogenesis proteins including SASS6, CPAP, and CEP135 1. The kinase localizes to centrosomes, nucleolus, and cleavage furrow, with expression increasing through S and M phases before APC/C-dependent degradation 2. PLK4 phosphorylates multiple substrates including FBXW5, STIL, CEP131, and PCM1, regulating centriolar satellite organization and centriole replication fidelity 3. Beyond centriole biology, PLK4 participates in deuterosome-mediated centriole amplification in multiciliated cells and trophoblast differentiation through HAND1 phosphorylation. Clinically, PLK4 deregulation drives tumorigenesis and genomic instability, with overexpression associated with advanced disease and poor outcomes across multiple cancer types 4. Haploinsufficient PLK4 mice show tumor predisposition with spontaneous liver tumors and multipolar spindles during hepatocyte proliferation 2. PLK4 inhibition represents a promising therapeutic strategy, particularly for neuroblastoma and breast cancer with 17q amplification, where TRIM37 levels determine mitotic vulnerability 5. Recent CRISPR screens identify PLK4 as a target to overcome oxaliplatin resistance in colorectal cancer 6, with clinical trials underway exploring single-agent and combination approaches.

Sources cited
1
PLK4/Zyg-1 coordinates procentriole nucleation with Asterless/Cep152 and Sas-6 recruits centriole biogenesis proteins
PMID: 23199753
2
PLK4 (Sak) localizes to centrosomes and nucleolus, expressed S-M phase with APC/C degradation; haploinsufficient mice show tumor predisposition and multipolar spindles
PMID: 15640847
3
PLK4 phosphorylates CEP131 and PCM1 for centriolar satellite organization
PMID: 30804208
4
PLK4 overexpression drives tumorigenesis and is associated with advanced disease and worse clinical outcomes
PMID: 40512236
5
TRIM37 levels determine cancer sensitivity to PLK4 inhibition; high TRIM37 in 17q-amplified neuroblastoma and breast cancer renders these cancers sensitive to PLK4 inhibitors
PMID: 32908304
6
PLK4 is identified as therapeutic target to overcome oxaliplatin resistance in colorectal cancer via genetic and pharmacological approaches
PMID: 38951519
Disease Associationsβ“˜21
Seckel syndromeOpen Targets
0.73Strong
neurodegenerative diseaseOpen Targets
0.53Moderate
Primary microcephalyOpen Targets
0.37Weak
autosomal recessive primary microcephalyOpen Targets
0.37Weak
microcephaly and chorioretinopathy 1Open Targets
0.37Weak
genetic disorderOpen Targets
0.19Weak
Retinal dystrophyOpen Targets
0.16Weak
breast cancerOpen Targets
0.13Weak
neoplasmOpen Targets
0.13Weak
microcephalyOpen Targets
0.12Weak
cancerOpen Targets
0.11Weak
optic atrophyOpen Targets
0.11Weak
open-angle glaucomaOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.10Weak
liver diseaseOpen Targets
0.10Weak
Nijmegen breakage syndromeOpen Targets
0.10Suggestive
non-small cell lung carcinomaOpen Targets
0.09Suggestive
acute myeloid leukemiaOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.09Suggestive
Microcephaly and chorioretinopathy, autosomal recessive, 2UniProt
Pathogenic Variants34
NM_014264.5(PLK4):c.1358+1G>CLikely pathogenic
not provided
β˜…β˜…β˜†β˜†2025
NM_014264.5(PLK4):c.1658del (p.Pro553fs)Pathogenic
Microcephaly and chorioretinopathy 2|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 553
NM_014264.5(PLK4):c.1163_1166del (p.Gln388fs)Pathogenic
not provided|Microcephaly and chorioretinopathy 2
β˜…β˜…β˜†β˜†2023β†’ Residue 388
NM_014264.5(PLK4):c.1956del (p.Asn652fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 652
NM_014264.5(PLK4):c.2323-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2026
NM_014264.5(PLK4):c.1350_1353del (p.Asn450fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 450
NM_014264.5(PLK4):c.37A>T (p.Lys13Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 13
NM_014264.5(PLK4):c.1261_1264del (p.Ser421fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 421
NM_014264.5(PLK4):c.1111C>T (p.Arg371Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 371
NM_014264.5(PLK4):c.553C>T (p.Arg185Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 185
NM_014264.5(PLK4):c.1531C>T (p.Gln511Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 511
NM_014264.5(PLK4):c.1177_1181del (p.Thr393fs)Likely pathogenic
Microcephaly and chorioretinopathy 2
β˜…β˜†β˜†β˜†2024β†’ Residue 393
NM_014264.5(PLK4):c.1115dup (p.Tyr372Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 372
NM_014264.5(PLK4):c.1567_1568insTTGT (p.Lys523fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 523
NM_014264.5(PLK4):c.1116C>G (p.Tyr372Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 372
NM_014264.5(PLK4):c.60del (p.Gly21fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 21
NM_014264.5(PLK4):c.1201del (p.Ser401fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 401
NM_014264.5(PLK4):c.644_645del (p.Thr215fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 215
NM_014264.5(PLK4):c.585_604dup (p.Tyr202fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 202
NM_014264.5(PLK4):c.2563-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
View on ClinVar β†—
Drug Targets3
CFI-400945Phase II
Serine/threonine-protein kinase PLK4 inhibitor
breast cancer
OCIFISERTIBUNKNOWN
Serine/threonine-protein kinase PLK4 inhibitor
neoplasm
RG-1530Phase I
Fibroblast growth factor receptor 2 inhibitor
neoplasm
Related Genes
BTRCProtein interaction99%CDC25CProtein interaction99%NEDD1Protein interaction99%CEP295Protein interaction99%ASPMProtein interaction97%KIF23Protein interaction95%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
4%
Ovary
1%
Lung
1%
Heart
1%
Liver
1%
Gene Interaction Network
Click a node to explore
PLK4BTRCCDC25CNEDD1CEP295ASPMKIF23
PROTEIN STRUCTURE
Preparing viewer…
PDB3COK Β· 2.25 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.62LoF Tolerant
pLIβ“˜
0.18Tolerant
Observed/Expected LoF0.42 [0.29–0.62]
RankingsWhere PLK4 stands among ~20K protein-coding genes
  • #2,736of 20,598
    Most Researched164 Β· top quartile
  • #1,695of 5,498
    Most Pathogenic Variants34
  • #4,331of 17,882
    Most Constrained (LOEUF)0.62 Β· top quartile
Genes detectedPLK4
Sources retrieved27 papers
Response timeβ€”
πŸ“„ Sources
27β–Ό
1
TRIM37 controls cancer-specific vulnerability to PLK4 inhibition.
PMID: 32908304
Nature Β· 2020
1.00
2
CRISPR screens reveal convergent targeting strategies against evolutionarily distinct chemoresistance in cancer.
PMID: 38951519
Nat Commun Β· 2024
0.90
3
PLK4 as a potential target to enhance radiosensitivity in triple-negative breast cancer.
PMID: 38365710
Radiat Oncol Β· 2024
0.88
4
Role of PLK4 inhibition in cancer therapy.
PMID: 40512236
Cancer Metastasis Rev Β· 2025
0.80
5
Polo-like kinases and acute leukemia.
PMID: 30104712
Oncogene Β· 2019
0.80