Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about PNPLA6: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.
PNPLA6 is a gene implicated in neurodegeneration research. Key relationships include: associated with, implicated in. Associated with Ataxia, Cancer, Ms. Connected to 35 entities in the SciDEX knowledge graph.
| Gene Symbol | PNPLA6 |
| Full Name | Patatin-like Phospholipase Domain Containing 6 (Neuropathy Target Esterase, NTE) |
| Chromosome | 19p13.2 |
| Protein Type | Enzyme |
| Function | is a critical enzyme for neuronal health and axonal maintenance. |
| Primary Expression | Neurons, axons, peripheral nerve, Sertoli cells |
| Subcellular Localization | the endoplasmic reticulum and plasma membrane of neurons, with its catalytic domain facing the cytoplasm |
| Molecular Weight | ~180 kDa |
| Amino Acids | 1640 aa |
| UniProt ID | Q8IY84 |
| NCBI Gene ID | 10908 |
| Ensembl ID | ENSG00000118640 |
| OMIM | 603649 |
| GeneCards | PNPLA6 |
| Human Protein Atlas | PNPLA6 |
| Associated Diseases | Ataxia, Cancer, Ms |
| KG Connections | 52 knowledge graph edges |
| Databases | GeneCardsHPASTRING |
Knowledge base pages for this entity
graph TD
PNPLA6["<b>PNPLA6</b>"]
Ms{"Ms"}
PNPLA6 -->|"associated with"| Ms
Ataxia{"Ataxia"}
PNPLA6 -->|"associated with"| Ataxia
neurodegeneration["neurodegeneration"]
PNPLA6 -->|"implicated in"| neurodegeneration
WFS1["WFS1"]
WFS1 -->|"associated with"| PNPLA6
HARS["HARS"]
HARS -->|"associated with"| PNPLA6
ATM["ATM"]
ATM -->|"associated with"| PNPLA6
CLPP["CLPP"]
CLPP -->|"associated with"| PNPLA6
SETX["SETX"]
SETX -->|"associated with"| PNPLA6
LARS2["LARS2"]
LARS2 -->|"associated with"| PNPLA6
POLG["POLG"]
POLG -->|"associated with"| PNPLA6
SIL1["SIL1"]
SIL1 -->|"associated with"| PNPLA6
STUB1["STUB1"]
STUB1 -->|"associated with"| PNPLA6
FMR1["FMR1"]
FMR1 -->|"associated with"| PNPLA6
TWNK["TWNK"]
TWNK -->|"associated with"| PNPLA6
style PNPLA6 fill:#1a3a4a,stroke:#4fc3f7,stroke-width:3px,color:#e0e0e0| Target | Relation | Type | Str |
|---|---|---|---|
| Ms | associated_with | disease | 0.65 |
| Ataxia | associated_with | disease | 0.65 |
| Cancer | associated_with | disease | 0.65 |
| BAX | associated_with | gene | 0.60 |
| BECN1 | associated_with | gene | 0.60 |
| RPS6 | associated_with | gene | 0.60 |
| PI3K | associated_with | gene | 0.60 |
| CTCF | associated_with | gene | 0.60 |
| SMPD1 | associated_with | gene | 0.60 |
| BCL2 | associated_with | gene | 0.60 |
| LC3 | associated_with | gene | 0.60 |
| AKT | associated_with | gene | 0.60 |
| POLG | associated_with | gene | 0.60 |
| TWNK | associated_with | gene | 0.60 |
| LARS2 | associated_with | gene | 0.60 |
| SIL1 | associated_with | gene | 0.60 |
| HARS | associated_with | gene | 0.60 |
| STUB1 | associated_with | gene | 0.60 |
| WFS1 | associated_with | gene | 0.60 |
| SETX | associated_with | gene | 0.60 |
| FMR1 | associated_with | gene | 0.60 |
| RAB32 | associated_with | gene | 0.60 |
| SNCA | associated_with | gene | 0.60 |
| SPG7 | associated_with | gene | 0.60 |
| VCP | associated_with | gene | 0.60 |
| GFP | associated_with | gene | 0.60 |
| AUTOPHAGY | associated_with | gene | 0.60 |
| APOPTOSIS | associated_with | gene | 0.60 |
| DMSO | associated_with | gene | 0.60 |
| MAP1LC3 | associated_with | gene | 0.60 |
| CANCER | associated_with | gene | 0.60 |
| MTORC1 | associated_with | gene | 0.60 |
| Lysosomal Degradation | associated_with | pathway | 0.60 |
| Autophagy | associated_with | pathway | 0.60 |
| Mtor | associated_with | pathway | 0.60 |
| Apoptosis | associated_with | pathway | 0.60 |
| RNF216 | associated_with | gene | 0.60 |
| Source | Relation | Type | Str |
|---|---|---|---|
| WFS1 | associated_with | gene | 0.60 |
| HARS | associated_with | gene | 0.60 |
| ATM | associated_with | gene | 0.60 |
| CLPP | associated_with | gene | 0.60 |
| SETX | associated_with | gene | 0.60 |
| LARS2 | associated_with | gene | 0.60 |
| POLG | associated_with | gene | 0.60 |
| SIL1 | associated_with | gene | 0.60 |
| STUB1 | associated_with | gene | 0.60 |
| FMR1 | associated_with | gene | 0.60 |
| TWNK | associated_with | gene | 0.60 |
| ATXN2 | associated_with | gene | 0.60 |
| GCH1 | associated_with | gene | 0.60 |
| PINK1 | associated_with | gene | 0.60 |
| PLA2G6 | associated_with | gene | 0.60 |
Hypotheses where this entity is a therapeutic target
| Hypothesis | Score | Disease | Analysis |
|---|---|---|---|
| No targeting hypotheses | |||
Scientific analyses that reference this entity
No analyses mention this entity
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| No papers found | ||||