PRRT2 Gene
Proline-Rich Transmembrane Protein 2
Gene Information Card
| Symbol | PRRT2 |
|---|---|
| Full Name | Proline-Rich Transmembrane Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 112476 ncbi.nlm.nih.gov/gene/112476 |
| Ensembl ID | ENSG00000167371 |
| UniProt ID | Q7Z6L1 |
| OMIM ID | 614386 |
| HGNC ID | 30500 |
| Aliases | BFIC2, BFIS2, DYT10, EKD1, FICCA, ICCA, IFITMD1, PKC, PKD |
Description
PRRT2 (proline-rich transmembrane protein 2) encodes a protein involved in synaptic vesicle exocytosis and neuronal excitability. Mutations in this gene are a major cause of paroxysmal kinesigenic dyskinesia (PKD), infantile convulsions with or without choreoathetosis (ICCA), and benign familial infantile seizures (BFIS). The protein interacts with SNAP25 and synaptotagmin to regulate neurotransmitter release.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Paroxysmal kinesigenic dyskinesia (PKD) | Loss-of-function mutations reduce PRRT2 protein, impairing synaptic vesicle priming and leading to involuntary movements triggered by sudden voluntary movements. | ClinVar, OMIM |
| Benign familial infantile seizures (BFIS) | Heterozygous mutations cause haploinsufficiency, resulting in early-onset seizures that typically resolve by age 2. | ClinVar, OMIM |
| Infantile convulsions and choreoathetosis (ICCA) | Same PRRT2 mutations as PKD/BFIS; phenotype includes both infantile seizures and later paroxysmal dyskinesia. | ClinVar, OMIM |
| Hemiplegic migraine | Rare missense variants (e.g., p.Arg217Pro) associated with familial hemiplegic migraine, possibly via altered calcium signaling. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Cerebellum | 15.2 | High |
| Cerebral cortex | 14.8 | High |
| Testis | 3.1 | Low |
| Heart | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.4 | Neuronal model |
| U-87 MG (glioblastoma) | 9.7 | Glial origin |
| HEK 293 (embryonic kidney) | 2.3 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.649dupC (p.Arg217Profs*8) | Frameshift | Common (founder mutation) | Loss of function; premature stop codon leads to nonsense-mediated decay |
| c.649delC (p.Arg217Glufs*12) | Frameshift | Recurrent | Loss of function; truncated protein |
| c.879C>G (p.Tyr293*) | Nonsense | Rare | Loss of function; premature termination |
| c.514A>G (p.Thr172Ala) | Missense | Rare | Likely loss of function; reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Majority of pathogenic PRRT2 mutations (frameshift, nonsense, splice-site) lead to haploinsufficiency or truncated protein, impairing synaptic vesicle exocytosis.
Gain of Function (GOF)
No evidence of gain-of-function mutations in PRRT2.
Dominant Negative (DN)
Not reported; heterozygous loss-of-function is the primary mechanism.
View complete mutation data：
Gene Ontology (GO)
| • SNARE binding (GO:0000149) | • synaptic vesicle exocytosis (GO:0016079) |
| • synapse (GO:0045202) | • plasma membrane (GO:0005886) |
| • protein binding (GO:0005515) |
Pathways
• Synaptic vesicle cycle (Reactome: R-HSA-421837)
• Neurotransmitter release (KEGG: hsa04728)
Protein Summary
PRRT2 is a 340-amino acid transmembrane protein predominantly expressed in the brain. It localizes to the plasma membrane and presynaptic terminals, where it interacts with SNAP25 and synaptotagmin to facilitate calcium-triggered synaptic vesicle exocytosis. Loss of PRRT2 function disrupts neurotransmitter release, leading to neuronal hyperexcitability and paroxysmal movement disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRRT2 Knockout HEK293 Cell Line | EDJ-KQ7380 | Human | 112476 | Details Get a Quote |
| PRRT2 Knockout HCT 116 Cell Line | EDJ-KQ32516 | Human | 112476 | Details Get a Quote |
| PRRT2 Knockout HeLa Cell Line | EDJ-KQ32517 | Human | 112476 | Details Get a Quote |
| PRRT2 Knockout A-549 Cell Line | EDJ-KQ66388 | Human | 112476 | Details Get a Quote |
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