PNPLA7
Patatin-like phospholipase domain-containing protein 7
Gene Information Card
| Symbol | PNPLA7 |
|---|---|
| Full Name | Patatin-like phospholipase domain containing 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q21.31 |
| NCBI Gene ID | 375775 ncbi.nlm.nih.gov/gene/375775 |
| Ensembl ID | ENSG00000130653 |
| UniProt ID | Q6ZVB0 |
| OMIM ID | 612121 |
| HGNC ID | 25590 |
| Aliases | NTE-related esterase, NTE-like, NTE-L, NTE-PLA2, GS2, iPLA2gamma |
Description
PNPLA7 encodes a member of the patatin-like phospholipase domain-containing protein family. The protein exhibits lysophospholipase and phospholipase A2 activity, and is involved in lipid metabolism and membrane homeostasis. It is highly expressed in the brain and is associated with neurological and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spastic paraplegia 39, autosomal recessive | Loss-of-function mutations in PNPLA7 cause hereditary spastic paraplegia due to impaired phospholipid metabolism in neurons. | OMIM #612121; ClinVar |
| Neurodevelopmental disorder with spasticity and brain abnormalities | Biallelic PNPLA7 variants lead to a severe neurodevelopmental phenotype. | ClinVar; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 8.2 | Medium |
| Adipose tissue | 6.1 | Medium |
| Liver | 3.4 | Low |
| Heart | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.3 | Neuronal cell line |
| HepG2 | 4.1 | Hepatocellular carcinoma |
| HeLa | 2.7 | Cervical adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; associated with spastic paraplegia |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Loss of function; neurodevelopmental disorder |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations cause hereditary spastic paraplegia and neurodevelopmental disorders.
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)
| • lysophospholipase activity | • phospholipase A2 activity |
| • lipid metabolic process | • membrane |
| • endoplasmic reticulum |
Pathways
• Glycerophospholipid metabolism
• Phospholipid remodeling
Protein Summary
PNPLA7 is a 1,361-amino acid protein localized to the endoplasmic reticulum. It contains a patatin-like phospholipase domain and catalyzes the deacylation of lysophosphatidylcholine and phosphatidylcholine. The protein is essential for neuronal phospholipid homeostasis and its deficiency leads to axonal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PNPLA7 Knockout HEK293 Cell Line | EDJ-KQ3890 | Human | 375775 | Details Get a Quote |
| PNPLA7 Knockout HeLa Cell Line | EDJ-KQ59935 | Human | 375775 | Details Get a Quote |
| PNPLA7 Knockout A-549 Cell Line | EDJ-KQ68395 | Human | 375775 | Details Get a Quote |
| PNPLA7 Knockout HCT 116 Cell Line | EDJ-KQ76775 | Human | 375775 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
