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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PTAFR
platelet activating factor receptor
Chromosome 1 · 1p35.3
NCBI Gene: 5724Ensembl: ENSG00000169403.13HGNC: HGNC:9582UniProt: A8K7N8
102PubMed Papers
20Diseases
2Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membraneprotein bindingphospholipid bindingphospholipase C-activating G protein-coupled receptor signaling pathwayallergic diseaseurticariarheumatoid arthritisMastocytosis
✦AI Summary

PTAFR (platelet activating factor receptor) is a G protein-coupled receptor located on chromosome 1 that contains no introns and encodes a seven-transmembrane domain protein 1. As a receptor for platelet-activating factor (PAF), a phospholipid mediator, PTAFR mediates inflammatory responses through activation of phosphatidylinositol-calcium second messenger systems and phospholipase C signaling pathways. PTAFR exhibits broad involvement in pathological processes. In atherosclerosis, PTAFR acts as a hub gene regulating neutrophil extracellular trap (NET) formation in macrophages and neutrophils, influencing disease progression and ischemic event risk 2. In gastroesophageal junction tumorigenesis, PTAF-PTAFR pathway activation promotes proliferation and proneoplastic features; pharmacologic PTAFR inhibition (WEB2086) suppresses tumor formation in vitro and in vivo 3. PTAFR also functions as an adipokine receptor; PRXL2A-PTAFR signaling activates AMPK to suppress hepatic de novo lipogenesis and lipid accumulation 4. PTAFR dysregulation associates with multiple inflammatory and immune diseases. It was identified as a core target in bisphenol A-induced psoriasis, with elevated expression correlating to immune cell infiltration 5. PTAFR appears in neutrophil extracellular trap-related gene signatures for lower-grade glioma prognosis 6 and oral inflammatory diseases 7. PTAFR hyperexpression in COVID-19 patients correlates with disease severity and thrombotic complications 8, suggesting its role as a platelet activation biomarker.

Sources cited
1
PTAFR is located on chromosome 1, contains no introns, and encodes a seven-transmembrane G protein-coupled receptor
PMID: 1322356
2
PTAFR is a hub gene regulating NET formation in macrophages and neutrophils, influencing atherosclerosis progression and ischemic event risk
PMID: 39709510
3
PTAF-PTAFR pathway activation promotes proneoplastic features in gastroesophageal junction cancer; PTAFR inhibition suppresses tumor formation
PMID: 36449602
4
PRXL2A binds PTAFR to activate AMPK and suppress hepatic de novo lipogenesis
PMID: 40670400
5
PTAFR is a core target in bisphenol A-induced psoriasis with elevated expression in lesional tissue
PMID: 40347869
6
PTAFR is among five differentially expressed neutrophil extracellular trap-related genes in lower-grade glioma prognosis signature
PMID: 39978096
7
PTAFR is identified as a biomarker in oral inflammatory diseases, particularly periodontitis
PMID: 38491529
8
PTAFR hyperexpression in COVID-19 patients correlates with disease severity and thrombotic complications
PMID: 39477442
Disease Associationsⓘ20
allergic diseaseOpen Targets
0.46Moderate
urticariaOpen Targets
0.33Weak
rheumatoid arthritisOpen Targets
0.26Weak
MastocytosisOpen Targets
0.18Weak
neoplasmOpen Targets
0.11Weak
ovarian cancerOpen Targets
0.10Weak
chronic obstructive pulmonary diseaseOpen Targets
0.10Weak
melanomaOpen Targets
0.10Suggestive
Alzheimer diseaseOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.08Suggestive
SepsisOpen Targets
0.08Suggestive
infectionOpen Targets
0.08Suggestive
idiopathic pulmonary fibrosisOpen Targets
0.08Suggestive
cold urticariaOpen Targets
0.07Suggestive
deafnessOpen Targets
0.06Suggestive
immunodeficiency 28Open Targets
0.06Suggestive
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiencyOpen Targets
0.06Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.06Suggestive
Immunodeficiency due to a late component of complements deficiencyOpen Targets
0.06Suggestive
recurrent Neisseria infections due to factor D deficiencyOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets2
MINOPAFANTPhase II
Platelet activating factor receptor antagonist
Sepsis
RUPATADINEApproved
Histamine H1 receptor antagonist
allergic disease
Related Genes
STAT1Protein interaction100%TYK2Protein interaction100%ARRB1Protein interaction91%GPR135Protein interaction86%TLR4Protein interaction85%GNA14Protein interaction83%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
33%
Heart
6%
Brain
4%
Liver
3%
Ovary
2%
Gene Interaction Network
Click a node to explore
PTAFRSTAT1TYK2ARRB1GPR135TLR4GNA14
PROTEIN STRUCTURE
Preparing viewer…
PDB5ZKP · 2.81 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.91LoF Tolerant
pLIⓘ
0.03Tolerant
Observed/Expected LoF0.53 [0.33–0.91]
RankingsWhere PTAFR stands among ~20K protein-coding genes
  • #4,691of 20,598
    Most Researched102 · top quartile
  • #946of 1,025
    FDA-Approved Drug Targets1
  • #8,202of 17,882
    Most Constrained (LOEUF)0.91
Genes detectedPTAFR
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Exploring the toxicological impact of bisphenol a exposure on psoriasis through network toxicology, machine learning, and multi-dimensional bioinformatics analysis.
PMID: 40347869
J Environ Manage · 2025
1.00
2
Identifying PTAFR as a hub gene in atherosclerosis: implications for NETosis and disease progression.
PMID: 39709510
Hum Genomics · 2024
0.90
3
Generation and multiomic profiling of a
PMID: 36449602
Sci Transl Med · 2022
0.80
4
Adipose tissue-derived PRXL2A suppresses hepatic lipogenesis in a study with male mice.
PMID: 40670400
Nat Commun · 2025
0.70
5
The human platelet-activating factor receptor gene (PTAFR) contains no introns and maps to chromosome 1.
PMID: 1322356
Genomics · 1992
0.60