PCTP Gene - Phosphatidylcholine Transfer Protein
Comprehensive gene card for PCTP (phosphatidylcholine transfer protein) including expression, mutations, and associated diseases.
Gene Information Card
| Symbol | PCTP |
|---|---|
| Full Name | Phosphatidylcholine transfer protein |
| Gene Type | Protein coding |
| Chromosomal Location | 17q24.2 |
| NCBI Gene ID | 58488 ncbi.nlm.nih.gov/gene/58488 |
| Ensembl ID | ENSG00000141198 |
| UniProt ID | Q9UKL4 |
| OMIM ID | 606055 |
| HGNC ID | 8752 |
| Aliases | STARD2, PCP, PC-TP |
Description
The PCTP gene encodes phosphatidylcholine transfer protein (PC-TP), a member of the StAR-related lipid transfer (START) domain family. It specifically binds and transfers phosphatidylcholine between membranes, playing a role in lipid metabolism, membrane trafficking, and signaling. The protein is primarily cytosolic and expressed in various tissues, with highest levels in liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nonalcoholic fatty liver disease (NAFLD) | Altered phosphatidylcholine transfer may affect hepatic lipid homeostasis and contribute to steatosis. | PMID: 25931412 |
| Hepatocellular carcinoma | Dysregulation of PCTP expression linked to lipid metabolism reprogramming in liver cancer. | PMID: 31570896 |
| Atherosclerosis | PC-TP modulates lipoprotein metabolism and inflammatory responses in vascular cells. | PMID: 20074584 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 38.2 | High |
| Kidney | 22.5 | Medium |
| Small intestine | 15.8 | Medium |
| Lung | 8.4 | Low |
| Heart | 6.1 | Low |
| Brain | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 45.1 | Hepatocellular carcinoma cell line |
| HEK 293 | 12.3 | Embryonic kidney cells |
| A549 | 7.8 | Lung adenocarcinoma cells |
| MCF7 | 3.2 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | 0.0002 | Substitution in START domain; potential impact on lipid binding |
| c.521A>G (p.Asn174Ser) | Missense | 0.0001 | Rare variant; functional significance unknown |
| c.1-?_*_?del | Deletion | Not reported | Complete gene deletion; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Deletion or truncating mutations that abolish PC-TP activity may impair phosphatidylcholine transport and lipid homeostasis.
Gain of Function (GOF)
No gain-of-function mutations reported in PCTP.
Dominant Negative (DN)
No dominant-negative mutations described for PCTP.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Phosphatidylcholine biosynthesis (Reactome: R-HSA-1483206)
• Lipoprotein metabolism (Reactome: R-HSA-174824)
• Intracellular lipid transport (Reactome: R-HSA-1483226)
Protein Summary
Phosphatidylcholine transfer protein (PC-TP) is a 213-amino acid cytosolic protein containing a START domain that specifically binds phosphatidylcholine. It facilitates the non-vesicular transfer of phosphatidylcholine between membranes, influencing membrane composition, lipid signaling, and hepatic lipid metabolism. PC-TP also interacts with transcription factors to regulate gene expression related to lipid homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCTP Knockout HEK293 Cell Line | EDJ-KQ14710 | Human | 58488 | Details Get a Quote |
| PCTP Knockout HeLa Cell Line | EDJ-KQ43809 | Human | 58488 | Details Get a Quote |
| PCTP Knockout A-549 Cell Line | EDJ-KQ45032 | Human | 58488 | Details Get a Quote |
| PCTP Knockout HCT 116 Cell Line | EDJ-KQ45033 | Human | 58488 | Details Get a Quote |
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