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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PCTP
phosphatidylcholine transfer protein
Chromosome 17 · 17q22
NCBI Gene: 58488Ensembl: ENSG00000141179.14HGNC: HGNC:8752UniProt: I3L2M9
26PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingphosphatidylcholine intramembrane carrier activityphosphatidylcholine bindingphospholipid transportAbnormality of the skeletal systemneurodegenerative diseasebronchial diseaseresponse to exercise
✦AI Summary

PCTP (phosphatidylcholine transfer protein) is a cytosolic protein that catalyzes the intermembrane transfer of phosphatidylcholine molecules between cellular membranes 1. The protein binds a single phosphatidylcholine molecule and facilitates its transport across membrane compartments, with its structure comprising a hydrophobic pocket and well-defined head group binding site 2. PCTP plays critical roles in platelet activation by enhancing dense granule secretion and contributing to PAR4-mediated platelet responses, with higher expression levels associated with increased platelet reactivity 34. The protein also regulates metabolic processes by limiting fatty acid access to mitochondria through stimulation of thioesterase superfamily member 2 (Them2), influencing hepatic lipid metabolism and insulin sensitivity 25. PCTP expression is transcriptionally regulated by RUNX1 and exhibits racial differences, with higher expression in platelets from black subjects compared to white subjects 67. Clinically, elevated PCTP expression is associated with increased risk of death and myocardial infarction in cardiovascular disease patients, highlighting its potential as a biomarker and therapeutic target 6. The human PCTP gene is located on chromosome 17-22 1.

Sources cited
1
PCTP catalyzes intermembrane transfer of phosphatidylcholines and is located on chromosome 17q21-22
PMID: 10542325
2
PCTP structure contains hydrophobic pocket and head group binding site, regulates metabolism by limiting fatty acid access to mitochondria
PMID: 20338778
3
PCTP enhances dense granule secretion and contributes to platelet activation
PMID: 33770537
4
Higher PCTP expression in platelets from black subjects is associated with increased PAR4 reactivity
PMID: 24216752
5
PCTP is transcriptionally regulated by RUNX1 and associated with cardiovascular events
PMID: 28676520
6
Genetic variant rs2912553 drives racially dimorphic PCTP expression
PMID: 28251237
7
PCTP interacts with Them2 to regulate hepatic steatosis and insulin resistance
PMID: 39369989
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.36Weak
neurodegenerative diseaseOpen Targets
0.35Weak
bronchial diseaseOpen Targets
0.28Weak
response to exerciseOpen Targets
0.22Weak
jaw diseaseOpen Targets
0.18Weak
spinal cord injuryOpen Targets
0.07Suggestive
gallbladder disease 1Open Targets
0.06Suggestive
gallbladder diseaseOpen Targets
0.06Suggestive
placental retentionOpen Targets
0.06Suggestive
progressive familial intrahepatic cholestasisOpen Targets
0.05Suggestive
cholestasis, progressive familial intrahepatic, 8Open Targets
0.05Suggestive
Congenital bile acid synthesis defect type 1Open Targets
0.05Suggestive
Aagenaes syndromeOpen Targets
0.05Suggestive
Cholestasis-lymphedema syndromeOpen Targets
0.05Suggestive
Congenital bile acid synthesis defect type 3Open Targets
0.05Suggestive
X-linked erythropoietic protoporphyriaOpen Targets
0.05Suggestive
Adrenocorticotropic hormone deficiencyOpen Targets
0.05Suggestive
sclerosing cholangitisOpen Targets
0.04Suggestive
hyperbiliverdinemiaOpen Targets
0.04Suggestive
Dubin-Johnson syndromeOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ACOT13Protein interaction96%STARD5Protein interaction94%STARD4Protein interaction94%STARD6Protein interaction93%SLC38A5Protein interaction84%STARProtein interaction79%
Tissue Expression6 tissues
Liver
100%
Lung
29%
Heart
18%
Bone Marrow
11%
Ovary
10%
Brain
4%
Gene Interaction Network
Click a node to explore
PCTPACOT13STARD5STARD4STARD6SLC38A5STAR
PROTEIN STRUCTURE
Preparing viewer…
PDB7U9D · 2.18 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.51LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.02 [0.70–1.51]
RankingsWhere PCTP stands among ~20K protein-coding genes
  • #12,845of 20,598
    Most Researched26
  • #15,216of 17,882
    Most Constrained (LOEUF)1.51
Genes detectedPCTP
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Racial differences in human platelet PAR4 reactivity reflect expression of PCTP and miR-376c.
PMID: 24216752
Nat Med · 2013
1.00
2
PCTP contributes to human platelet activation by enhancing dense granule secretion.
PMID: 33770537
Thromb Res · 2021
0.90
3
PC-TP/StARD2: Of membranes and metabolism.
PMID: 20338778
Trends Endocrinol Metab · 2010
0.80
4
Transcription Factor RUNX1 Regulates Platelet
PMID: 28676520
Circulation · 2017
0.70
5
Identification of a functional genetic variant driving racially dimorphic platelet gene expression of the thrombin receptor regulator, PCTP.
PMID: 28251237
Thromb Haemost · 2017
0.60