LPCAT2
Lysophosphatidylcholine Acyltransferase 2
Gene Information Card
| Symbol | LPCAT2 |
|---|---|
| Full Name | Lysophosphatidylcholine Acyltransferase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q12.2 |
| NCBI Gene ID | 54947 ncbi.nlm.nih.gov/gene/54947 |
| Ensembl ID | ENSG00000103168 |
| UniProt ID | Q7L5N7 |
| OMIM ID | 612442 |
| HGNC ID | 26031 |
| Aliases | AYTL2, LPCAT-2, LPAT2, AGPAT11 |
Description
LPCAT2 encodes an enzyme that catalyzes the conversion of lysophosphatidylcholine to phosphatidylcholine, a key step in phospholipid remodeling (Lands cycle). It is involved in inflammatory responses, platelet-activating factor (PAF) biosynthesis, and lipid metabolism. The gene is expressed in various tissues and is implicated in cancer and inflammatory diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered LPCAT2 expression may promote tumor growth via phospholipid remodeling | Expression studies in tumor tissues (PMID: 25944712) |
| Inflammatory bowel disease | LPCAT2-mediated PAF production contributes to intestinal inflammation | Association studies (PMID: 23395172) |
| Asthma | LPCAT2 regulates PAF synthesis in airway inflammation | Functional studies (PMID: 19074851) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lung | 8.3 | Low |
| Spleen | 15.2 | Medium |
| Small intestine | 6.7 | Low |
| Whole blood | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 18.9 | High expression in myeloid cells |
| A549 (lung carcinoma) | 7.2 | Moderate expression |
| HCT116 (colorectal carcinoma) | 5.8 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | 0.001% (gnomAD) | Unknown functional impact |
| c.1280A>G (p.Tyr427Cys) | Missense | 0.002% (gnomAD) | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data:
Gene Ontology (GO)
| • 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841) | • integral component of membrane (GO:0016021) |
| • phosphatidylcholine biosynthetic process (GO:0006656) | • phosphatidylinositol biosynthetic process (GO:0006661) |
| • phosphatidylcholine metabolic process (GO:0046470) |
Pathways
• Lands cycle (Reactome: R-HSA-1483206)
• Glycerophospholipid biosynthesis (KEGG: hsa00564)
• Platelet activation (KEGG: hsa04611)
Protein Summary
LPCAT2 is a 544-amino acid transmembrane protein localized to the endoplasmic reticulum and nuclear envelope. It possesses both acyltransferase and acetyltransferase activities, enabling the synthesis of phosphatidylcholine and platelet-activating factor. The enzyme is regulated by phosphorylation and plays a role in lipid mediator production during inflammation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LPCAT2 Knockout HEK293 Cell Line | EDJ-KQ14096 | Human | 54947 | Details Get a Quote |
| LPCAT2 Knockout A-549 Cell Line | EDJ-KQ44022 | Human | 54947 | Details Get a Quote |
| LPCAT2 Knockout HCT 116 Cell Line | EDJ-KQ44023 | Human | 54947 | Details Get a Quote |
| LPCAT2 Knockout HeLa Cell Line | EDJ-KQ44024 | Human | 54947 | Details Get a Quote |
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