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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PLD6
phospholipase D family member 6
Chromosome 17 · 17p11.2
NCBI Gene: 201164Ensembl: ENSG00000179598.6HGNC: HGNC:30447UniProt: Q8N2A8
25PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of mitochondrial fusionprotein bindingcardiolipin phospholipase D activityprotein homodimerization activitymale infertilityazoospermiaAbnormality of the skeletal systempartial chromosome Y deletion
✦AI Summary

PLD6 (phospholipase D family member 6) is a dual-function enzyme with distinct phospholipase and nuclease activities that plays critical roles in mitochondrial dynamics and reproductive biology. As a phospholipase, PLD6 uses cardiolipin as substrate to generate phosphatidic acid (PA), which facilitates mitochondrial fusion through interaction with proteins like NME3 and mitofusins 1. This PA production is essential for maintaining mitochondrial homeostasis, with PLD6 depletion causing mitochondrial fragmentation and metabolic dysfunction 2. PLD6's mitochondrial fusion activity is regulated by the ubiquitin-proteasome system, specifically through FEM1B-mediated degradation controlled by TOM20 3. In reproductive contexts, PLD6 exhibits endonuclease activity crucial for piRNA biogenesis during spermatogenesis, where it processes piRNA precursors to maintain genome stability in germline cells. Beyond its established roles, emerging evidence suggests PLD6 functions as an oncogenic factor in colorectal cancer by promoting mitochondrial metabolic reprogramming that activates Wnt/β-catenin signaling 2. PLD6 also contributes to podocyte function and protection against lipid nephrotoxicity through cardiolipin metabolism 4. Genetic variants affecting PLD6 expression are associated with testis weight regulation and may influence reproductive efficiency across mammalian species 5.

Sources cited
1
PLD6 generates phosphatidic acid from cardiolipin to facilitate mitochondrial fusion through NME3 interaction
PMID: 37584589
2
PLD6 depletion causes mitochondrial fragmentation and acts as oncogenic factor in colorectal cancer
PMID: 40259095
3
PLD6 degradation is regulated by FEM1B and TOM20 in the ubiquitin-proteasome system
PMID: 40263465
4
PLD6 contributes to podocyte cardiolipin metabolism and protection against lipid nephrotoxicity
PMID: 40355014
5
Genetic variants in PLD6 are associated with testis weight regulation in mammals
PMID: 29691636
Disease Associationsⓘ20
male infertilityOpen Targets
0.30Weak
azoospermiaOpen Targets
0.10Suggestive
Abnormality of the skeletal systemOpen Targets
0.09Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
spermatogenic failure 50Open Targets
0.08Suggestive
spermatogenic failure 57Open Targets
0.08Suggestive
spermatogenic failure 25Open Targets
0.08Suggestive
spermatogenic failure 71Open Targets
0.07Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
metabolic syndromeOpen Targets
0.07Suggestive
isochromosomy YpOpen Targets
0.07Suggestive
spermatogenic failure 63Open Targets
0.07Suggestive
spermatogenic failure 61Open Targets
0.07Suggestive
spermatogenic failure 62Open Targets
0.07Suggestive
spermatogenic failure 88Open Targets
0.07Suggestive
spermatogenic failure 59Open Targets
0.07Suggestive
spermatogenic failure 60Open Targets
0.07Suggestive
spermatogenic failure 73Open Targets
0.07Suggestive
spermatogenic failure 74Open Targets
0.07Suggestive
spermatogenic failure 48Open Targets
0.07Suggestive
Pathogenic Variants1
NM_178836.4(PLD6):c.469del (p.His157fs)Likely pathogenic
Male infertility
★☆☆☆2023→ Residue 157
View on ClinVar ↗
Related Genes
PIWIL2Protein interaction84%ASZ1Protein interaction84%MOV10L1Protein interaction79%HENMT1Protein interaction79%TDRD9Protein interaction79%PIWIL4Protein interaction79%
Tissue Expression6 tissues
Ovary
100%
Heart
79%
Liver
75%
Brain
59%
Bone Marrow
39%
Lung
37%
Gene Interaction Network
Click a node to explore
PLD6PIWIL2ASZ1MOV10L1HENMT1TDRD9PIWIL4
PROTEIN STRUCTURE
Preparing viewer…
PDB9LKX · 3.76 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.92LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.45 [0.86–1.92]
RankingsWhere PLD6 stands among ~20K protein-coding genes
  • #13,039of 20,598
    Most Researched25
  • #5,316of 5,498
    Most Pathogenic Variants1
  • #17,416of 17,882
    Most Constrained (LOEUF)1.92
Genes detectedPLD6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
TOM20-driven E3 ligase recruitment regulates mitochondrial dynamics through PLD6.
PMID: 40263465
Nat Chem Biol · 2026
1.00
2
Phospholipase D6 activates Wnt/β-catenin signaling through mitochondrial metabolic reprogramming to promote tumorigenesis in colorectal cancer.
PMID: 40259095
Exp Mol Med · 2025
0.90
3
TRABD modulates mitochondrial homeostasis and tissue integrity.
PMID: 38843396
Cell Rep · 2024
0.80
4
BNIP3L/Nix-induced mitochondrial fission, mitophagy, and impaired myocyte glucose uptake are abrogated by PRKA/PKA phosphorylation.
PMID: 33044904
Autophagy · 2021
0.70
5
NME3 binds to phosphatidic acid and mediates PLD6-induced mitochondrial tethering.
PMID: 37584589
J Cell Biol · 2023
0.60