Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	P2RX4
Symbol Alias	P2X4
Approved Name	purinergic receptor P2X, ligand gated ion channel, 4
Previous Name	purinergic receptor P2X, ligand-gated ion channel, 4
Location	12q24.32
Position	chr12:121209857-121234106, 1
External Links	HGNC: 8535 Entrez Gene: 5025 Ensembl: ENSG00000135124 UCSC: uc001tzr.3
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
McQuillin, A.,2009	SNP: rs11065501	No significant association was observed with BP.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 52)

GO terms by PBA (count: 6)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006816	calcium ion transport	biological process	IEA	14
GO:0045296	cadherin binding	molecular function	IPI[12088286]	7
GO:0016020	membrane	cellular component	IDA[17785580]	137
GO:0005102	receptor binding	molecular function	ISS[17785580]	37
GO:0005887	integral component of plasma membrane	cellular component	IC[11606481]; IMP[10515189]	158
GO:0005886	plasma membrane	cellular component	ISS[17785580]	360

GO terms by database search (count: 46)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0043197	dendritic spine	cellular component	IEA	21
GO:0051260	protein homooligomerization	biological process	IEA	13
GO:0019228	neuronal action potential	biological process	IEA	11
GO:0005639	integral component of nuclear inner membrane	cellular component	IBA	2
GO:0007165	signal transduction	biological process	IDA[9016352]	136
GO:0034405	response to fluid shear stress	biological process	IDA[10969036]	6
GO:0001614	purinergic nucleotide receptor activity	molecular function	IDA[9016352]; IMP[11606481]	2
GO:0008144	drug binding	molecular function	IEA	21
GO:0098655	cation transmembrane transport	biological process	IEA	16
GO:0002028	regulation of sodium ion transport	biological process	ISS[17785580]	9
GO:0045177	apical part of cell	cellular component	IEA	13
GO:0042311	vasodilation	biological process	IEA	6
GO:0005765	lysosomal membrane	cellular component	IDA[17897319]	14
GO:0097190	apoptotic signaling pathway	biological process	IDA[17264311]	13
GO:0055117	regulation of cardiac muscle contraction	biological process	IMP[11606481]	6
GO:0043195	terminal bouton	cellular component	IEA	17
GO:0050850	positive regulation of calcium-mediated signaling	biological process	IDA[10969036]; IMP[10899068]	2
GO:0043025	neuronal cell body	cellular component	IEA	50
GO:0008217	regulation of blood pressure	biological process	IMP[11606481]	12
GO:0032308	positive regulation of prostaglandin secretion	biological process	NAS[10899068]	4
GO:0008270	zinc ion binding	molecular function	ISS[12819199]	77
GO:0005507	copper ion binding	molecular function	ISS[12819199]	4
GO:0048471	perinuclear region of cytoplasm	cellular component	IDA[12088286]	50
GO:0033198	response to ATP	biological process	IDA[9016352]	5
GO:0005524	ATP binding	molecular function	IC[11606481]	118
GO:0006809	nitric oxide biosynthetic process	biological process	IEA	8
GO:0042803	protein homodimerization activity	molecular function	NAS[17895406]	71
GO:0014069	postsynaptic density	cellular component	IEA	26
GO:0055119	relaxation of cardiac muscle	biological process	IMP[11606481]	4
GO:0045429	positive regulation of nitric oxide biosynthetic process	biological process	NAS[10899068]	13
GO:0004931	extracellular ATP-gated cation channel activity	molecular function	IDA[10515189]	2
GO:0034220	ion transmembrane transport	biological process	IDA[10515189]	50
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176
GO:0001894	tissue homeostasis	biological process	NAS[17264311]	2
GO:0019233	sensory perception of pain	biological process	ISS[14978347]	15
GO:0005515	protein binding	molecular function	IPI[25416956]	563
GO:0042118	endothelial cell activation	biological process	TAS[12088286]	1
GO:0030054	cell junction	cellular component	IDA[12088286]	88
GO:0006810	transport	biological process	IDA[9016352]	47
GO:0010524	positive regulation of calcium ion transport into cytosol	biological process	IDA[10969036]; IMP[10899068]	3
GO:0071318	cellular response to ATP	biological process	IDA[10515189]	3
GO:0051928	positive regulation of calcium ion transport	biological process	NAS[15130891]	9
GO:0035590	purinergic nucleotide receptor signaling pathway	biological process	IMP[11606481]	2
GO:0060079	regulation of excitatory postsynaptic membrane potential	biological process	IEA	10
GO:0010614	negative regulation of cardiac muscle hypertrophy	biological process	IMP[15130891]	2
GO:0051899	membrane depolarization	biological process	IDA[9016352]	9

Gene related KEGG pathways (count: 2)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04020	Calcium signaling pathway	53

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04080	Neuroactive ligand-receptor interaction	92

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
P2RX4	CDH5	NO	in vivo	12088286

Related other genetic factors

Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs11065501	chr12:121234167 - 121234167(1)	downstream_gene_variant	1(0/1/0)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 6)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
12q24.3	chr12:120300000-133275309	1 (1/0/0)
Chr 12	chr12:0-133275309	3 (0/3/0)
12q24	chr12:108600000-133275309	4 (1/1/2)
12q23-q24	chr12:95800000-133275309	3 (2/0/1)
12q24.31	chr12:120300000-125400000	1 (1/0/0)
12q	chr12:38200000-133851895	1 (1/0/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr12:121209857..121234106 View in gBrowse