Hs01492854_cn

• Gene Symbol: P2RX2
• Assay Reference Genome Location: Chr.12:132622057 on build GRCh38
• Cytoband: 12q24.33

Target Gene Details

• Entrez Gene ID: 22953
• Gene Name: purinergic receptor P2X 2
• Gene Aliases: DFNA41, P2X2
• Location: Chr.12:132618780-132623678 on Build GRCh38
• Assay Gene Location: Within Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
P2RX2	NM_001282164.1	11	1235	NP_001269093.1
	NM_001282165.1	10	1635	NP_001269094.1
	NM_012226.4	9	1322	NP_036358.2
	NM_016318.3	10	1466	NP_057402.1
	NM_170682.3	11	1538	NP_733782.1
	NM_170683.3	10	1616	NP_733783.1
	NM_174872.2	9	1262	NP_777361.1
	NM_174873.2	12	1337	NP_777362.1
	XM_005266154.3	10	1645	XP_005266211.1
	XM_005266155.4	11	1307	XP_005266212.1
	XM_005266156.4	11	1409	XP_005266213.1
	XM_011534786.2	9	1528	XP_011533088.1
	XM_017019035.1	12	1229	XP_016874524.1
	AF190822.1	11	1501	AAF19170.1
	AF260426.1			AAF74201.1
	BC109200.2	10	1598	AAI09201.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv952512	Chr.12:132192256 - 132711214 on Build GRCh38	Deletion	LOC100130238 POLE GALNT9 LOC105370092 PXMP2 MUC8 LRCOL1 PGAM5 P2RX2 MIR6763 LOC101928416 LOC100996573 FBRSL1
nsv561109	Chr.12:132618549 - 132626173 on Build GRCh38	Loss	POLE P2RX2
esv2422284	Chr.12:132604248 - 132708921 on Build GRCh38	Deletion	POLE LRCOL1 P2RX2 PXMP2
nsv826563	Chr.12:132125383 - 132622340 on Build GRCh38	Gain	LOC100130238 GALNT9 LOC105370092 NOC4L MUC8 LRCOL1 DDX51 P2RX2 MIR6763 LOC101928416 LOC100996573 FBRSL1 EP400NL
nsv1037074	Chr.12:132613063 - 132801953 on Build GRCh38	Gain	POLE PGAM5 P2RX2 PXMP2 ANKLE2 GOLGA3

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

ligand-gated ion channel

Gene Ontology Categories:

Process(es)

response to hypoxia
detection of hypoxic conditions in blood by carotid body chemoreceptor signaling
neuromuscular synaptic transmission
neuromuscular junction development
blood coagulation
sensory perception of sound
response to carbohydrate
positive regulation of calcium ion transport into cytosol
urinary bladder smooth muscle contraction
peristalsis
response to ATP
purinergic nucleotide receptor signaling pathway
behavioral response to pain
skeletal muscle fiber development
positive regulation of calcium-mediated signaling
sensory perception of taste
protein homooligomerization
cation transmembrane transport

Function(s)

purinergic nucleotide receptor activity
extracellular ATP-gated cation channel activity
ATP binding
ligand-gated ion channel activity
identical protein binding