gene

PNPLA6

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

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.

52Connections
0Hypotheses
0Analyses
37Outgoing
15Incoming

Summary

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.

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🧬 Gene Info
Gene SymbolPNPLA6
Full NamePatatin-like Phospholipase Domain Containing 6 (Neuropathy Target Esterase, NTE)
Chromosome19p13.2
Protein TypeEnzyme
Functionis a critical enzyme for neuronal health and axonal maintenance.
Primary ExpressionNeurons, axons, peripheral nerve, Sertoli cells
Subcellular Localizationthe endoplasmic reticulum and plasma membrane of neurons, with its catalytic domain facing the cytoplasm
Molecular Weight~180 kDa
Amino Acids1640 aa
UniProt IDQ8IY84
NCBI Gene ID10908
Ensembl IDENSG00000118640
OMIM603649
GeneCardsPNPLA6
Human Protein AtlasPNPLA6
Associated DiseasesAtaxia, Cancer, Ms
KG Connections52 knowledge graph edges
DatabasesGeneCardsHPASTRING
🔮 Predicted Structure: PNPLA6 — AlphaFold Q8IY84 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (6)

Knowledge base pages for this entity

Canonical Page

PNPLA6 Gene — Neuropathy Target Esterase (NTE) in Neurodegeneration

gene · 2026 words

HARS1 — Histidyl-tRNA Synthetase 1

gene · 1686 words

Personalized Antisense Oligonucleotide (ASO) Therapy

idea · 1453 words

TWNK Gene

gene · 759 words

SIL1 Gene

gene · 747 words

Genes

index · 271 words

Pathway Diagram

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

Outgoing (37)

TargetRelationTypeStr
Msassociated_withdisease0.65
Ataxiaassociated_withdisease0.65
Cancerassociated_withdisease0.65
BAXassociated_withgene0.60
BECN1associated_withgene0.60

Incoming (15)

SourceRelationTypeStr
WFS1associated_withgene0.60
HARSassociated_withgene0.60
ATMassociated_withgene0.60
CLPPassociated_withgene0.60
SETXassociated_withgene0.60

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

HypothesisScoreDiseaseAnalysis
No targeting hypotheses

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention this entity

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMIDAuthorsJournalYearCitations
No papers found