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FLASH GENE

Symbol

PRRT2

contributors: mct - updated : 19-06-2018

HGNC name	proline-rich transmembrane protein 2
HGNC id	30500

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain basal nuclei     highly Homo sapiens   brain forebrain cerebral 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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed cancer brain glioma/neuroblstoma promising target for potential therapeutic intervention in glioma

ANIMAL & CELL MODELS