gene

PRRT2

Entity Detail — Knowledge Graph Node

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This page aggregates everything SciDEX knows about PRRT2: 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.

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Summary

PRRT2 (Proline-Rich Transmembrane Protein 2) is a neuronal protein involved in neurotransmitter release. Mutations cause paroxysmal dyskinesias, seizures, and infantile convulsions.

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🧬 Gene Info

Gene Symbol	PRRT2
Full Name	Proline-Rich Transmembrane Protein 2
Chromosome	16p11.2
Function	encodes a neuronal protein critically involved in synaptic transmission and neurotransmitter release.
Amino Acids	340 aa
UniProt ID	[Q7Z405](https://www.uniprot.org/uniprot/Q7Z405)
Ensembl ID	ENSG00000146859
GeneCards	PRRT2
Human Protein Atlas	PRRT2
Synaptic vesicle release modulation	PRRT2 regulates the probability of neurotransmitter release by interacting with the SNARE complex[@gardoni2019]
SNAP25 interaction	Direct binding to SNAP25 modulates SNARE complex assembly
Synaptotagmin binding	Interaction with synaptotagmin-1 links PRRT2 to calcium-dependent release
Vesicle recycling	PRRT2 participates in synaptic vesicle endocytosis and recycling[@zhang2022]
Brain	Highest expression in cerebral cortex, basal ganglia (particularly striatum), and cerebellum[@cilia2022]
Spinal cord	Moderate expression in motor neurons
Associated Diseases	Parkinson's disease, Alzheimer's disease, Epilepsy
Databases	GeneCards NCBI Gene HPA STRING

Wiki Pages (1)

Knowledge base pages for this entity

Canonical Page

PRRT2 Gene

gene · 2684 words

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Pathway Diagram

graph TD
    PRRT2["PRRT2"]
    neurodegeneration["neurodegeneration"]
    PRRT2 -->|"implicated_in"| neurodegeneration
    style PRRT2 fill:#4a1a6b,stroke:#4fc3f7,stroke-width:2px,color:#e0e0e0

Outgoing (0)

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Incoming (0)

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Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

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Mentioning Analyses (0)

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Experiments (0)

Experimental studies targeting or related to this entity

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Related Papers (0)

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Related Research

Hypotheses and analyses mentioning PRRT2 in their description or question text

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