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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PLD4
phospholipase D family member 4
Chromosome 14 · 14q32.33
NCBI Gene: 122618Ensembl: ENSG00000166428.14HGNC: HGNC:23792UniProt: B4DI07
20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
innate immune responselysosome5'-3' RNA exonuclease activityacyltransferase activity, transferring groups other than amino-acyl groupsrheumatoid arthritissystemic lupus erythematosussystemic sclerodermasystemic lupus erythematosus 18
✦AI Summary

PLD4 is a 5'→3' exonuclease that hydrolyzes single-stranded DNA and RNA to form nucleoside 3'-monophosphates, displaying higher efficiency for uridine and guanosine-initiated substrates 1. Beyond nucleic acid degradation, PLD4 functions as a transphosphatidylase synthesizing (S,S)-bis(monoacylglycero)phosphate (BMP), the primary phospholipid of lysosomal intralumenal vesicles required for lipid degradation 2. PLD4 processes endolysosomal nucleic acids to regulate innate immunity: it degrades mitochondrial CpG-rich ssDNA to prevent TLR9 activation, while cooperating with endonuclease RNASET2 to generate 2',3'-cyclic guanosine monophosphate (2',3'-cGMP) and pyrimidine-rich RNA fragments that activate TLR7 for antiviral responses 3. Loss-of-function PLD4 mutations cause systemic lupus erythematosus (SLE) through excessive TLR7 and TLR9 activation and hyperactivated type I interferon signaling in dendritic cells 4. PLD4-deficient mice exhibit autoimmunity with plasmacytoid dendritic cell and plasma cell expansion, responding to JAK inhibitor baricitinib therapy 4. PLD4 variants are associated with SLE susceptibility, producing altered anti-dsDNA antibody responses 5. Elevated CSF PLD4 correlates with neuroinflammation in Parkinson's disease LRRK2 carriers 6. These findings establish PLD4 as a critical regulator of endolysosomal homeostasis and immune tolerance.

Sources cited
1
PLD4 is a 5' exonuclease that degrades TLR ligands and regulates nucleic acid sensing
PMID: 30111894
2
PLD4 synthesizes (S,S)-BMP, a crucial lysosomal phospholipid for lipid degradation
PMID: 39423811
3
PLD4 cooperates with RNase T2 to generate TLR7 ligands including 2',3'-cGMP
PMID: 38697119
4
Loss-of-function PLD4 mutations cause SLE through TLR hyperactivation and type I interferon signaling
PMID: 40931063
5
PLD4 is a genetic determinant of SLE associated with anti-dsDNA antibody production
PMID: 30679154
6
Elevated PLD4 in CSF correlates with neuroinflammation in LRRK2 G2019S Parkinson's disease carriers
PMID: 35732154
Disease Associationsⓘ20
rheumatoid arthritisOpen Targets
0.40Weak
systemic lupus erythematosusOpen Targets
0.30Weak
systemic sclerodermaOpen Targets
0.27Weak
systemic lupus erythematosus 18Open Targets
0.18Weak
hypothyroidismOpen Targets
0.15Weak
immunodeficiency 64Open Targets
0.07Suggestive
activated PI3K-delta syndromeOpen Targets
0.06Suggestive
autoimmune lymphoproliferative syndrome type 4Open Targets
0.06Suggestive
RAS-associated autoimmune leukoproliferative diseaseOpen Targets
0.06Suggestive
severe combined immunodeficiency due to LAT deficiencyOpen Targets
0.06Suggestive
immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopeniasOpen Targets
0.06Suggestive
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveOpen Targets
0.06Suggestive
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaOpen Targets
0.06Suggestive
Familial hemophagocytic lymphohistiocytosisOpen Targets
0.06Suggestive
autoimmune lymphoproliferative syndromeOpen Targets
0.06Suggestive
autoimmune lymphoproliferative syndrome type 1Open Targets
0.06Suggestive
immunodeficiency 105Open Targets
0.06Suggestive
congenital neutropenia-myelofibrosis-nephromegaly syndromeOpen Targets
0.06Suggestive
Recurrent infections-myelofibrosis-nephromegaly syndromeOpen Targets
0.06Suggestive
severe combined immunodeficiency due to DCLRE1C deficiencyOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CDS1Protein interaction96%CDS2Protein interaction96%MBOAT2Protein interaction94%LPCAT4Protein interaction93%PLPP4Protein interaction92%MBOAT1Protein interaction92%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
5%
Heart
2%
Ovary
1%
Lung
1%
Liver
1%
Gene Interaction Network
Click a node to explore
PLD4CDS1CDS2MBOAT2LPCAT4PLPP4MBOAT1
PROTEIN STRUCTURE
Preparing viewer…
PDB8V08 · 3.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.58LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.27 [1.03–1.58]
RankingsWhere PLD4 stands among ~20K protein-coding genes
  • #14,227of 20,598
    Most Researched20
  • #15,594of 17,882
    Most Constrained (LOEUF)1.58
Genes detectedPLD4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Loss-of-function mutations in PLD4 lead to systemic lupus erythematosus.
PMID: 40931063
Nature · 2025
1.00
2
Proteome profiling of cerebrospinal fluid reveals biomarker candidates for Parkinson's disease.
PMID: 35732154
Cell Rep Med · 2022
0.90
3
PLD3 and PLD4 are single-stranded acid exonucleases that regulate endosomal nucleic-acid sensing.
PMID: 30111894
Nat Immunol · 2018
0.80
4
PLD3 and PLD4 synthesize S,S-BMP, a key phospholipid enabling lipid degradation in lysosomes.
PMID: 39423811
Cell · 2024
0.70
5
Lysosomal endonuclease RNase T2 and PLD exonucleases cooperatively generate RNA ligands for TLR7 activation.
PMID: 38697119
Immunity · 2024
0.60