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FLASH GENE
Symbol PRRT2 contributors: mct - updated : 19-06-2018
HGNC name proline-rich transmembrane protein 2
HGNC id 30500
Corresponding disease
BFIS2 seizures, benign familial infantile, 2
EKD1 episodic kinegenic dyskinesia 1
ICCA convulsions, familial infantile with paroxysmal choreoathetosis
Location 16p11.2      Physical location : 29.823.408 - 29.827.201
Synonym name
  • interferon induced transmembrane protein domain containing 1
  • dispanin subfamily B member 3
    • Synonym symbol(s) DYT10, EKD1, IFITMD1, PKC, BFIC2, BFIS2, DSPB3, FICCA, ICCA
    DNA
    TYPE functioning gene
    STRUCTURE 3.83 kb     4 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 2606 - 340 - 2018 29346777
    2 - 3195 - 299 - 2018 29346777
    3 - 2768 - 394 - 2018 29346777
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainbasal nuclei  highly Homo sapiens
     brainforebraincerebral cortex highly Homo sapiens
     brain     Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text highly expressed in the developing nervous system
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two predicted transmembrane domains
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • predominantly localizes to the pre-synaptic terminals and is believed to regulate neurotransmitter release
    • basic FUNCTION
  • plays a role in epilepsy
  • wild-type PRRT2 (PRRT2wt) had an inhibitory effect in proliferation, consistent with the low expression level of PRRT2 in cancer versus normal prostate samples
  • selectively blocks the trans SNARE complex assembly and thus negatively regulates synaptic vesicle priming
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with synaptosomal-associated protein 25 kDa (SNAP25), and plays a role in neurotransmitter release from synaptic vesicles
  • interact with SNAP25, a component of the molecular machinery involved in the release of neurotransmitters at the presynaptic membrane
  • is an important negative modulator of SCN8A and SCN2 channels
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EKD1 , ICCA , BFIS2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    alters short-term synaptic plasticity and promotes network hyperexcitability in Hippocampal neurons
    tumoral     --low  
    in glioma tumor tissues compared with normal brain tissue
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerbrainglioma/neuroblstoma
    promising target for potential therapeutic intervention in glioma
    ANIMAL & CELL MODELS