PLD4 Gene - Phospholipase D Family Member 4
Comprehensive genomic and functional analysis of PLD4, a phospholipase involved in immune regulation and associated with autoimmune and inflammatory diseases.
Gene Information Card
| Symbol | PLD4 |
|---|---|
| Full Name | Phospholipase D Family Member 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.1 |
| NCBI Gene ID | 122618 ncbi.nlm.nih.gov/gene/122618 |
| Ensembl ID | ENSG00000100804 |
| UniProt ID | Q96BZ4 |
| OMIM ID | 614676 |
| HGNC ID | 23792 |
| Aliases | PLD4, C14orf175, phospholipase D4 |
Description
PLD4 (Phospholipase D Family Member 4) encodes a phospholipase D enzyme that catalyzes the hydrolysis of phosphatidylcholine to phosphatidic acid and choline. It is primarily expressed in immune cells and plays a role in endosomal trafficking, immune signaling, and inflammation. Genetic variants in PLD4 have been associated with autoimmune diseases such as systemic sclerosis and rheumatoid arthritis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Systemic sclerosis | Risk variant rs2841277 (intronic) associated with increased susceptibility; PLD4 may modulate immune cell activation and fibrosis. | GWAS (PMID: 26301688) |
| Rheumatoid arthritis | PLD4 variants linked to altered immune response; potential role in synovial inflammation. | GWAS (PMID: 24390342) |
| Alopecia areata | PLD4 polymorphisms identified in genome-wide association studies. | GWAS (PMID: 20596022) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.3 | Medium |
| Lymph node | 9.8 | Medium |
| Whole blood | 6.5 | Low |
| Lung | 4.2 | Low |
| Small intestine | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 15.2 | High expression in monocytic cell line |
| Jurkat (T cell) | 8.7 | Moderate expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
| HeLa (cervical cancer) | 1.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2841277 | SNP (intronic) | 0.25 (East Asian) | Associated with systemic sclerosis risk |
| rs2841280 | SNP (intronic) | 0.20 (European) | Associated with rheumatoid arthritis |
| c.1045C>T (p.Arg349Trp) | Missense | <0.01 | Rare variant; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in PLD4.
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)
| • phospholipase D activity (GO:0004630) | • phospholipid catabolic process (GO:0009395) |
| • membrane (GO:0016020) | • plasma membrane (GO:0005886) |
| • cytoplasm (GO:0005737) |
Pathways
• Phospholipid metabolism (Reactome: R-HSA-1483206)
• Glycerophospholipid biosynthesis (Reactome: R-HSA-1483257)
Protein Summary
PLD4 is a 506-amino acid protein with a phospholipase D domain. It localizes to the plasma membrane and endosomes, where it hydrolyzes phosphatidylcholine to generate phosphatidic acid, a lipid second messenger involved in cell signaling and vesicle trafficking. PLD4 is highly expressed in immune tissues and is implicated in the regulation of inflammatory responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLD4 Knockout HEK293 Cell Line | EDJ-KQ2342 | Human | 122618 | Details Get a Quote |
| PLD4 Knockout HeLa Cell Line | EDJ-KQ58099 | Human | 122618 | Details Get a Quote |
| PLD4 Knockout A-549 Cell Line | EDJ-KQ66587 | Human | 122618 | Details Get a Quote |
| PLD4 Knockout HCT 116 Cell Line | EDJ-KQ75003 | Human | 122618 | Details Get a Quote |
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