PLA2G4D
Phospholipase A2 Group IVD
Gene Information Card
| Symbol | PLA2G4D |
|---|---|
| Full Name | Phospholipase A2 Group IVD |
| Gene Type | protein-coding |
| Chromosomal Location | 15q14 |
| NCBI Gene ID | 283748 ncbi.nlm.nih.gov/gene/283748 |
| Ensembl ID | ENSG00000168906 |
| UniProt ID | Q86XP0 |
| OMIM ID | 612401 |
| HGNC ID | 30020 |
| Aliases | cPLA2delta, PLA2G4DELTA |
Description
PLA2G4D encodes a member of the cytosolic phospholipase A2 (cPLA2) family, specifically group IVD. This enzyme catalyzes the hydrolysis of membrane phospholipids to release arachidonic acid, a precursor for eicosanoid synthesis involved in inflammation and cell signaling. It is preferentially expressed in immune tissues and may play a role in allergic and inflammatory responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthma | PLA2G4D variants may alter arachidonic acid release, affecting leukotriene production and airway inflammation. | PMID: 17676049 |
| Atopic dermatitis | Increased expression in skin lesions suggests involvement in eicosanoid-mediated inflammation. | PMID: 19222412 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 0.8 | Low |
| Lung | 0.5 | Low |
| Spleen | 0.3 | Low |
| Whole blood | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.2 | Low expression |
| A549 | 0.1 | Not detected |
| Jurkat | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | missense | <0.01% | Unknown functional effect |
| c.1465G>A (p.Gly489Ser) | missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • phospholipase A2 activity (GO:0004623) | • lipid catabolic process (GO:0016042) |
| • lipid binding (GO:0008289) | • cytoplasm (GO:0005737) |
Pathways
• Arachidonic acid metabolism (Reactome: R-HSA-2142753)
• Phospholipid metabolism (Reactome: R-HSA-1483257)
Protein Summary
PLA2G4D (cPLA2delta) is a 818-amino acid protein containing a C2 domain for calcium-dependent membrane binding and a catalytic domain. It preferentially hydrolyzes phospholipids at the sn-2 position to release arachidonic acid. Expression is highest in skin and immune tissues, suggesting a role in inflammatory skin diseases and asthma.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLA2G4D Knockout HEK293 Cell Line | EDJ-KQ1269 | Human | 283748 | Details Get a Quote |
| PLA2G4D Knockout HeLa Cell Line | EDJ-KQ59410 | Human | 283748 | Details Get a Quote |
| PLA2G4D Knockout A-549 Cell Line | EDJ-KQ67878 | Human | 283748 | Details Get a Quote |
| PLA2G4D Knockout HCT 116 Cell Line | EDJ-KQ76258 | Human | 283748 | Details Get a Quote |
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