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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.
PLEK
pleckstrin
Chromosome 2 Β· 2p14
NCBI Gene: 5341Ensembl: ENSG00000115956.10HGNC: HGNC:9070UniProt: P08567
52PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein kinase C bindingprotein bindingphosphatase activator activityprotein homodimerization activityvenous thromboembolismdeep vein thrombosismigraine disorderThromboembolism
✦AI Summary

PLEK (pleckstrin) is the major protein kinase C substrate in platelets with roles extending to immune cell function and metabolic regulation. Mechanistically, PLEK regulates actin cytoskeleton organization, cortical actin dynamics, and protein kinase C signaling, particularly in thrombin-activated receptor pathways 1. Beyond its classical platelet function, PLEK serves as a differentiation marker for myeloid leukocytes and tumor-associated macrophages (TAMs), with strong expression specificity in pulmonary macrophages 1. In disease contexts, PLEK demonstrates significant prognostic value. In venous thromboembolism (VTE), PLEK is identified as a genetically regulated circulating protein with causal associations to VTE development 2. In non-small cell lung cancer, PLEK downregulation in TAMs correlates with better prognosis in adenocarcinoma (HR=0.71) 1. Conversely, in osteosarcoma, high PLEK expression associates with improved survival and correlates with increased infiltration of protective immune cells (macrophages, dendritic cells, CD4+ T cells), suggesting tumor-suppressive functions 3. PLEK serves as a biomarker in M2 macrophage-associated pathologies including chr2 rhinosinusitis with nasal polyps 4 and carotid atherosclerosis 5. These diverse associations suggest PLEK functions as an immune-metabolic hub regulating inflammation and cell differentiation across multiple disease states.

Sources cited
1
PLEK identified as differentiation-related gene in TAMs; downregulation associated with better prognosis in lung adenocarcinoma (HR=0.71)
PMID: 36969247
2
PLEK identified as genetically regulated plasma protein causally associated with venous thromboembolism development through Mendelian randomization
PMID: 37537391
3
PLEK identified as M2 macrophage-related hub gene and biomarker in chronic rhinosinusitis with nasal polyps
PMID: 36466903
4
High PLEK expression in osteosarcoma correlates with improved survival and increased infiltration of protective immune cells; PLEK functions as tumor suppressor through immune-metabolic modulation
PMID: 40895569
5
PLEK is the major PKC substrate in platelets; identified as preferentially expressed in transformation-resistant cells
PMID: 10860665
6
Higher PLEK expression identified as potential biomarker of carotid atherosclerosis with worse prognosis at higher expression levels
PMID: 37861500
7
PLEK identified as upregulated in alcohol-activated hepatic stellate cells, involved in HSC activation mechanisms
PMID: 32258954
8
PLEK identified as core gene in tumor-associated neutrophil subset CD44_NEU in gastric cancer; included in 7-gene risk score model predictive of patient survival
PMID: 39684426
Disease Associationsβ“˜20
venous thromboembolismOpen Targets
0.52Moderate
deep vein thrombosisOpen Targets
0.46Moderate
migraine disorderOpen Targets
0.45Moderate
ThromboembolismOpen Targets
0.40Moderate
multiple sclerosisOpen Targets
0.33Weak
autosomal dominant nonsyndromic hearing loss 58Open Targets
0.33Weak
autosomal dominant macrothrombocytopeniaOpen Targets
0.09Suggestive
metabolic syndromeOpen Targets
0.07Suggestive
essential thrombocythemiaOpen Targets
0.07Suggestive
thrombocytopenia 7Open Targets
0.07Suggestive
adult T-cell leukemia/lymphomaOpen Targets
0.07Suggestive
Rare hemorrhagic disorder due to a constitutional platelet anomalyOpen Targets
0.07Suggestive
Beta-thalassemia - X-linked thrombocytopeniaOpen Targets
0.07Suggestive
beta-thalassemia-X-linked thrombocytopenia syndromeOpen Targets
0.07Suggestive
ThrombocytopeniaOpen Targets
0.06Suggestive
thrombocytopenia 9Open Targets
0.06Suggestive
bleeding disorder, platelet-type, 24Open Targets
0.06Suggestive
thrombocythemia 1Open Targets
0.06Suggestive
diabetes mellitusOpen Targets
0.06Suggestive
platelet-type von Willebrand diseaseOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
GRB2Protein interaction100%RABIFProtein interaction98%MCF2Protein interaction98%SRCProtein interaction97%CYTH1Protein interaction92%OSBPProtein interaction91%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
8%
Liver
1%
Heart
1%
Brain
1%
Ovary
0%
Gene Interaction Network
Click a node to explore
PLEKGRB2RABIFMCF2SRCCYTH1OSBP
PROTEIN STRUCTURE
Preparing viewer…
PDB2I5F Β· 1.35 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.81LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.52 [0.34–0.81]
RankingsWhere PLEK stands among ~20K protein-coding genes
  • #8,602of 20,598
    Most Researched52
  • #6,785of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedPLEK
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Differentiation-related genes in tumor-associated macrophages as potential prognostic biomarkers in non-small cell lung cancer.
PMID: 36969247
Front Immunol Β· 2023
1.00
2
Proteome-wide mendelian randomization identifies causal plasma proteins in venous thromboembolism development.
PMID: 37537391
J Hum Genet Β· 2023
0.90
3
M2 macrophage-related gene signature in chronic rhinosinusitis with nasal polyps.
PMID: 36466903
Front Immunol Β· 2022
0.80
4
Machine Learning Integration with Single-Cell Transcriptome Sequencing Datasets Reveals the Impact of Tumor-Associated Neutrophils on the Immune Microenvironment and Immunotherapy Outcomes in Gastric Cancer.
PMID: 39684426
Int J Mol Sci Β· 2024
0.70
5
The osteosarcoma immune microenvironment in progression: PLEK as a prognostic biomarker and therapeutic target.
PMID: 40895569
Front Immunol Β· 2025
0.60