PRRT2

PRRT2 is a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1.

Full Name

Proline Rich Transmembrane Protein 2

Function

As a component of the outer core of AMPAR complex, may be involved in synaptic transmission in the central nervous system. In hippocampal neurons, in presynaptic terminals, plays an important role in the final steps of neurotransmitter release, possibly by regulating Ca2+-sensing. In the cerebellum, may inhibit SNARE complex formation and down-regulate short-term facilitation.

Biological Process

Calcium-dependent activation of synaptic vesicle fusionIEA:Ensembl
Negative regulation of short-term synaptic potentiationISS:UniProtKB
Negative regulation of SNARE complex assemblyISS:UniProtKB
Neuromuscular process controlling postureManual Assertion Based On ExperimentIMP:MGI
Synaptic vesicle fusion to presynaptic active zone membraneISS:UniProtKB

Cellular Location

Cell membrane
Presynaptic cell membrane
Synapse
Cell projection, axon
Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane
Postsynaptic density membrane
Cell projection, dendritic spine

Involvement in disease

Episodic kinesigenic dyskinesia 1 (EKD1):
An autosomal dominant neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements, triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis.
Convulsions, familial infantile, with paroxysmal choreoathetosis (ICCA):
A syndrome characterized by clinical features of benign familial infantile seizures and episodic kinesigenic dyskinesia. Benign familial infantile seizures is a disorder characterized by afebrile seizures occurring during the first year of life, without neurologic sequelae. Paroxysmal choreoathetosis is a disorder of involuntary movements characterized by attacks that occur spontaneously or are induced by a variety of stimuli.
Seizures, benign familial infantile, 2 (BFIS2):
A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS2 inheritance is autosomal dominant.

Topology

Cytoplasmic: 1-268
Helical: 269-289
Cytoplasmic: 290-317
Helical: 318-338
Extracellular: 339-340