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FLASH GENE

Symbol

P2RX2

contributors: mct - updated : 28-08-2014

HGNC name	purinergic receptor P2X, ligand-gated ion channel, 2
HGNC id	15459

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DFNA41 neurosensory deafness 41
Location	12q24.33      Physical location : 133.195.402 - 133.198.972
Synonym symbol(s)	P2X2

DNA

TYPE	functioning gene
STRUCTURE	3.57 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_170682 11 splicing 1830 51 417 - 2006 16467187 isoform (A), P2RX2A NM_174873 12 splicing 1629 44 404 - 2006 16467187 P2RX2B lacking an in-frame segment of the coding region compared to variant 1 isoform (B) NM_016318 3 splicing 1758 49 447 - 2006 16467187 P2RX2C lacking an in-frame segment of the coding region compared to variant 1 isoform (C) NM_170683 10 splicing 1908 54 497 - 2006 16467187 P2RX2D containing an additional in-frame segment in the coding region compared to variant 1 isoform (D) NM_174872 9 splicing 1554 41 379 - 2006 16467187 P2RX2H lacking an in-frame segment of the coding region compared to variant 1 isoform (H) NM_012226 9 splicing 1614 43 399 - 2006 16467187 P2RX2I using an alternate splice site for its most 5' exon missing 2 internal coding exons compared to variant 1 isoform (I)

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 Hearing/Equilibrium ear inner cochlea Corti   Homo sapiens Nervous nerve         Homo sapiens   spinal cord         Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium hair cell receptor Homo sapiens Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	ATP-binding sites
	C-terminal structure playing a critical role in the cytoplasmic intersubunit interactions

conjugated

GlycoP

mono polymer

homomer , heteromer , polymer

HOMOLOGY

interspecies	ortholog to rattus P2rx2
	ortholog to murine P2rx2
	homolog to zebrafish p2rx2

Homologene

FAMILY

P2X receptor family

CATEGORY

signaling , receptor membrane , transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
text	integral to membrane

basic FUNCTION	mediating synaptic transmission between neurons and from neurons to smooth muscle
	acting as a ligand-gated ion channel
	involved in transmission of taste, from taste buds to gustatory nerves, via its ligand, ATP
	ligand-gated ion channel that is widely expressed by neurons in the central nervous system
	in hypothalamic neurons is associated with the regulation of food intake
	oligomeric ATP-gated ion channels selective to cations and involved in physiological processes as diverse as synaptic transmission, the response to inflammation, and pain perception
	mobile ATP sensor, sampling more of the dendritic plasma membrane in response to ATP

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	ion transport

PATHWAY

metabolism

signaling

neurotransmission

calcium signaling pathway

a component

homo- or heteropolymers

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP, and when binding extracellular ATP, a conformational change occurs that opens a transmembrane ion channel

protein	VSNL1 interacting with P2X2 receptor
	association of P2RX2 and GABRA1 could be used for specific targeting to neuronal membranes, thus providing an extrasynaptic receptor reserve that could regulate the excitability of neurons

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DFNA41

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	P2X-knockout mice show greatly reduced behavioral responses to sweeteners, glutamate, and bitter substances
	P2RX2-null mice developed severe progressive hearing loss, and their early exposure to continuous moderate noise led to high-frequency hearing loss as young adults