PLD6 (Phospholipase D Family Member 6)
Mitochondrial Cardiolipin Hydrolase and piRNA Biogenesis Factor
Gene Information Card
| Symbol | PLD6 |
|---|---|
| Full Name | Phospholipase D Family Member 6 |
| Gene Type | Protein-coding |
| Chromosomal Location | 17p11.2 |
| NCBI Gene ID | 201164 ncbi.nlm.nih.gov/gene/201164 |
| Ensembl ID | ENSG00000179598 |
| UniProt ID | Q8N2A8 |
| OMIM ID | 612948 |
| HGNC ID | 23759 |
| Aliases | MitoPLD, Zuc, PLD2 |
Description
PLD6 encodes a mitochondrial phospholipase D that specifically hydrolyzes cardiolipin to generate phosphatidic acid. It is essential for piwi-interacting RNA (piRNA) biogenesis in the germline, mitochondrial fusion, and male fertility. The protein localizes to the mitochondrial outer membrane and is involved in mitochondrial dynamics and retrograde signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (azoospermia) | Loss of PLD6 disrupts piRNA pathway, leading to transposon activation and spermatogenic arrest | OMIM #612948; mouse knockout models |
| Ovarian dysfunction | Impaired piRNA biogenesis causes meiotic defects in oocytes | Mouse studies; NCBI Gene |
| Cancer (breast, lung) | Altered PLD6 expression may affect mitochondrial lipid signaling and apoptosis | COSMIC; limited evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Ovary | 6.8 | Low |
| Brain | 3.2 | Low |
| Heart | 1.5 | Not detected |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 2.1 | Low expression |
| HEK293 | 1.8 | Low expression |
| K562 | 0.5 | Not detected |
| MCF7 | 3.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.287C>T (p.Pro96Leu) | Missense | <0.01% | Unknown significance; ClinVar |
| c.502G>A (p.Gly168Arg) | Missense | <0.01% | Unknown significance; ClinVar |
Mutation functional classification
Loss of Function (LOF)
Complete loss of PLD6 leads to infertility in mice due to piRNA pathway failure; human null variants are predicted to cause similar defects.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • phospholipase D activity (GO:0004630) | • mitochondrion (GO:0005739) |
| • cardiolipin binding (GO:0030148) | • piRNA processing (GO:0034587) |
| • spermatogenesis (GO:0007283) | • autophagy (GO:0006914) |
Pathways
• piRNA biogenesis (Reactome: R-HSA-5601884)
• Mitochondrial fusion (Reactome: R-HSA-140875)
Protein Summary
PLD6 (MitoPLD) is a 252-amino acid mitochondrial phospholipase D that converts cardiolipin to phosphatidic acid. It is critical for piRNA production in germ cells, thereby silencing transposable elements and ensuring genomic integrity during gametogenesis. The protein contains a conserved HKD motif essential for catalytic activity and is anchored to the mitochondrial outer membrane.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLD6 Knockout HEK293 Cell Line | EDJ-KQ4730 | Human | 201164 | Details Get a Quote |
| PLD6 Knockout HeLa Cell Line | EDJ-KQ26233 | Human | 201164 | Details Get a Quote |
| PLD6 Knockout A-549 Cell Line | EDJ-KQ27468 | Human | 201164 | Details Get a Quote |
| PLD6 Knockout HCT 116 Cell Line | EDJ-KQ27469 | Human | 201164 | Details Get a Quote |
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