• Gene id: 5027

Gene Summary

• Gene Symbol: P2RX7   Gene   UCSC   Ensembl
• Aliases: P2X7
• Gene name: purinergic receptor P2X 7
• Alternate names: P2X purinoceptor 7, ATP receptor, P2X7 receptor, P2Z receptor, purinergic receptor P2X, ligand gated ion channel, 7, purinergic receptor P2X7 variant A, purnergic receptor P2X 7,
• Gene location: 12q24.31 (121132818: 121188031)     Exons: 14     NC_000012.12
• Gene summary(Entrez): The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules.

Protein Summary

• Protein general information: Q99572  
  • Name: P2X purinoceptor 7 (P2X7) (ATP receptor) (P2Z receptor) (Purinergic receptor)
  • Length: 595  
  • Mass: 68585
  • Tissue specificity: Widely expressed with highest levels in brain and immune tissues. {ECO
• Sequence:

  MPACCSCSDVFQYETNKVTRIQSMNYGTIKWFFHVIIFSYVCFALVSDKLYQRKEPVISSVHTKVKGIAEVKEEI
  VENGVKKLVHSVFDTADYTFPLQGNSFFVMTNFLKTEGQEQRLCPEYPTRRTLCSSDRGCKKGWMDPQSKGIQTG
  RCVVYEGNQKTCEVSAWCPIEAVEEAPRPALLNSAENFTVLIKNNIDFPGHNYTTRNILPGLNITCTFHKTQNPQ
  CPIFRLGDIFRETGDNFSDVAIQGGIMGIEIYWDCNLDRWFHHCRPKYSFRRLDDKTTNVSLYPGYNFRYAKYYK
  ENNVEKRTLIKVFGIRFDILVFGTGGKFDIIQLVVYIGSTLSYFGLAAVFIDFLIDTYSSNCCRSHIYPWCKCCQ
  PCVVNEYYYRKKCESIVEPKPTLKYVSFVDESHIRMVNQQLLGRSLQDVKGQEVPRPAMDFTDLSRLPLALHDTP
  PIPGQPEEIQLLRKEATPRSRDSPVWCQCGSCLPSQLPESHRCLEELCCRKKPGACITTSELFRKLVLSRHVLQF
  LLLYQEPLLALDVDSTNSRLRHCAYRCYATWRFGSQDMADFAILPSCCRWRIRKEFPKSEGQYSGFKSPY

• Structural information:
  • Interpro: IPR003050  IPR027309  IPR001429  
  • Prosite: PS01212
  • STRING: ENSP00000330696
• Other Databases: GeneCards:  P2RX7  Malacards:  P2RX7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002931	response to ischemia	NAS	biological process
GO:0035585	calcium-mediated signaling using extracellular calcium source	TAS	biological process
GO:1905114	cell surface receptor signaling pathway involved in cell-cell signaling	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0071318	cellular response to ATP	TAS	biological process
GO:0070588	calcium ion transmembrane transport	TAS	biological process
GO:0045821	positive regulation of glycolytic process	IMP	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0005639	integral component of nuclear inner membrane	IBA	cellular component
GO:0004931	extracellularly ATP-gated cation channel activity	IBA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0032060	bleb assembly	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001614	purinergic nucleotide receptor activity	IEA	molecular function
GO:0004931	extracellularly ATP-gated cation channel activity	IEA	molecular function
GO:0098655	cation transmembrane transport	IEA	biological process
GO:0005216	ion channel activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0033198	response to ATP	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042098	T cell proliferation	IEA	biological process
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0032963	collagen metabolic process	IEA	biological process
GO:0032755	positive regulation of interleukin-6 production	IEA	biological process
GO:0032308	positive regulation of prostaglandin secretion	IEA	biological process
GO:0031668	cellular response to extracellular stimulus	IEA	biological process
GO:0030501	positive regulation of bone mineralization	IEA	biological process
GO:0016485	protein processing	IEA	biological process
GO:0016079	synaptic vesicle exocytosis	IEA	biological process
GO:0015267	channel activity	IEA	molecular function
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0010043	response to zinc ion	IEA	biological process
GO:0010033	response to organic substance	IEA	biological process
GO:0009617	response to bacterium	IEA	biological process
GO:0009612	response to mechanical stimulus	IEA	biological process
GO:0007005	mitochondrion organization	IEA	biological process
GO:0006884	cell volume homeostasis	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0006812	cation transport	IEA	biological process
GO:0006649	phospholipid transfer to membrane	IEA	biological process
GO:0006509	membrane protein ectodomain proteolysis	IEA	biological process
GO:0005911	cell-cell junction	IEA	cellular component
GO:0004931	extracellularly ATP-gated cation channel activity	IEA	molecular function
GO:0001845	phagolysosome assembly	IEA	biological process
GO:0000902	cell morphogenesis	IEA	biological process
GO:0000187	activation of MAPK activity	IEA	biological process
GO:0070230	positive regulation of lymphocyte apoptotic process	IEA	biological process
GO:0051901	positive regulation of mitochondrial depolarization	IEA	biological process
GO:0051592	response to calcium ion	IEA	biological process
GO:0050830	defense response to Gram-positive bacterium	IEA	biological process
GO:0050717	positive regulation of interleukin-1 alpha secretion	IEA	biological process
GO:0050715	positive regulation of cytokine secretion	IEA	biological process
GO:0048873	homeostasis of number of cells within a tissue	IEA	biological process
GO:0048705	skeletal system morphogenesis	IEA	biological process
GO:0046931	pore complex assembly	IEA	biological process
GO:0046513	ceramide biosynthetic process	IEA	biological process
GO:0045794	negative regulation of cell volume	IEA	biological process
GO:0045778	positive regulation of ossification	IEA	biological process
GO:0043029	T cell homeostasis	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0042493	response to drug	IEA	biological process
GO:0034405	response to fluid shear stress	IEA	biological process
GO:0033198	response to ATP	IEA	biological process
GO:0032731	positive regulation of interleukin-1 beta production	IEA	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0032060	bleb assembly	IEA	biological process
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0030163	protein catabolic process	IEA	biological process
GO:0019233	sensory perception of pain	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0014054	positive regulation of gamma-aminobutyric acid secretion	IEA	biological process
GO:0014049	positive regulation of glutamate secretion	IEA	biological process
GO:0012501	programmed cell death	IEA	biological process
GO:0010467	gene expression	IEA	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0008219	cell death	IEA	biological process
GO:0007009	plasma membrane organization	IEA	biological process
GO:0006954	inflammatory response	IEA	biological process
GO:0006900	vesicle budding from membrane	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0001934	positive regulation of protein phosphorylation	IEA	biological process
GO:0001916	positive regulation of T cell mediated cytotoxicity	IEA	biological process
GO:0001530	lipopolysaccharide binding	IEA	molecular function
GO:0097191	extrinsic apoptotic signaling pathway	IEA	biological process
GO:0072593	reactive oxygen species metabolic process	IEA	biological process
GO:0071407	cellular response to organic cyclic compound	IEA	biological process
GO:0071359	cellular response to dsRNA	IEA	biological process
GO:0051602	response to electrical stimulus	IEA	biological process
GO:0051209	release of sequestered calcium ion into cytosol	IEA	biological process
GO:0050718	positive regulation of interleukin-1 beta secretion	IEA	biological process
GO:0050714	positive regulation of protein secretion	IEA	biological process
GO:0045779	negative regulation of bone resorption	IEA	biological process
GO:0045332	phospholipid translocation	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0043410	positive regulation of MAPK cascade	IEA	biological process
GO:0043409	negative regulation of MAPK cascade	IEA	biological process
GO:0043132	NAD transport	IEA	biological process
GO:0043085	positive regulation of catalytic activity	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0001614	purinergic nucleotide receptor activity	IDA	molecular function
GO:0004931	extracellularly ATP-gated cation channel activity	IDA	molecular function
GO:0005524	ATP binding	IC	molecular function
GO:0001530	lipopolysaccharide binding	ISS	molecular function
GO:0005102	signaling receptor binding	ISS	molecular function
GO:0010524	positive regulation of calcium ion transport into cytosol	IDA	biological process
GO:0046931	pore complex assembly	IDA	biological process
GO:0005887	integral component of plasma membrane	IC	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0033198	response to ATP	IDA	biological process
GO:0050718	positive regulation of interleukin-1 beta secretion	IDA	biological process
GO:0050718	positive regulation of interleukin-1 beta secretion	IDA	biological process
GO:0051899	membrane depolarization	IDA	biological process
GO:0002028	regulation of sodium ion transport	ISS	biological process
GO:0030501	positive regulation of bone mineralization	ISS	biological process
GO:0032059	bleb	ISS	cellular component
GO:0051709	regulation of killing of cells of other organism	NAS	biological process
GO:0097190	apoptotic signaling pathway	ISS	biological process
GO:0042802	identical protein binding	ISS	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0005886	plasma membrane	ISS	cellular component
GO:0007166	cell surface receptor signaling pathway	ISS	biological process
GO:0019233	sensory perception of pain	ISS	biological process
GO:0032060	bleb assembly	ISS	biological process
GO:0043409	negative regulation of MAPK cascade	ISS	biological process
GO:0045779	negative regulation of bone resorption	ISS	biological process
GO:0097191	extrinsic apoptotic signaling pathway	ISS	biological process
GO:0051495	positive regulation of cytoskeleton organization	ISS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0098794	postsynapse	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0017121	plasma membrane phospholipid scrambling	IDA	biological process
GO:0046931	pore complex assembly	IMP	biological process
GO:0045794	negative regulation of cell volume	IMP	biological process
GO:1904172	positive regulation of bleb assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0035590	purinergic nucleotide receptor signaling pathway	IMP	biological process
GO:0034767	positive regulation of ion transmembrane transport	IMP	biological process
GO:0002931	response to ischemia	NAS	biological process
GO:0035585	calcium-mediated signaling using extracellular calcium source	TAS	biological process
GO:1905114	cell surface receptor signaling pathway involved in cell-cell signaling	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0071318	cellular response to ATP	TAS	biological process
GO:0070588	calcium ion transmembrane transport	TAS	biological process
GO:0045821	positive regulation of glycolytic process	IMP	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0005639	integral component of nuclear inner membrane	IBA	cellular component
GO:0004931	extracellularly ATP-gated cation channel activity	IBA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0032060	bleb assembly	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001614	purinergic nucleotide receptor activity	IEA	molecular function
GO:0004931	extracellularly ATP-gated cation channel activity	IEA	molecular function
GO:0098655	cation transmembrane transport	IEA	biological process
GO:0005216	ion channel activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0033198	response to ATP	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042098	T cell proliferation	IEA	biological process
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0032963	collagen metabolic process	IEA	biological process
GO:0032755	positive regulation of interleukin-6 production	IEA	biological process
GO:0032308	positive regulation of prostaglandin secretion	IEA	biological process
GO:0031668	cellular response to extracellular stimulus	IEA	biological process
GO:0030501	positive regulation of bone mineralization	IEA	biological process
GO:0016485	protein processing	IEA	biological process
GO:0016079	synaptic vesicle exocytosis	IEA	biological process
GO:0015267	channel activity	IEA	molecular function
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0010043	response to zinc ion	IEA	biological process
GO:0010033	response to organic substance	IEA	biological process
GO:0009617	response to bacterium	IEA	biological process
GO:0009612	response to mechanical stimulus	IEA	biological process
GO:0007005	mitochondrion organization	IEA	biological process
GO:0006884	cell volume homeostasis	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0006812	cation transport	IEA	biological process
GO:0006649	phospholipid transfer to membrane	IEA	biological process
GO:0006509	membrane protein ectodomain proteolysis	IEA	biological process
GO:0005911	cell-cell junction	IEA	cellular component
GO:0004931	extracellularly ATP-gated cation channel activity	IEA	molecular function
GO:0001845	phagolysosome assembly	IEA	biological process
GO:0000902	cell morphogenesis	IEA	biological process
GO:0000187	activation of MAPK activity	IEA	biological process
GO:0070230	positive regulation of lymphocyte apoptotic process	IEA	biological process
GO:0051901	positive regulation of mitochondrial depolarization	IEA	biological process
GO:0051592	response to calcium ion	IEA	biological process
GO:0050830	defense response to Gram-positive bacterium	IEA	biological process
GO:0050717	positive regulation of interleukin-1 alpha secretion	IEA	biological process
GO:0050715	positive regulation of cytokine secretion	IEA	biological process
GO:0048873	homeostasis of number of cells within a tissue	IEA	biological process
GO:0048705	skeletal system morphogenesis	IEA	biological process
GO:0046931	pore complex assembly	IEA	biological process
GO:0046513	ceramide biosynthetic process	IEA	biological process
GO:0045794	negative regulation of cell volume	IEA	biological process
GO:0045778	positive regulation of ossification	IEA	biological process
GO:0043029	T cell homeostasis	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0042493	response to drug	IEA	biological process
GO:0034405	response to fluid shear stress	IEA	biological process
GO:0033198	response to ATP	IEA	biological process
GO:0032731	positive regulation of interleukin-1 beta production	IEA	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0032060	bleb assembly	IEA	biological process
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0030163	protein catabolic process	IEA	biological process
GO:0019233	sensory perception of pain	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0014054	positive regulation of gamma-aminobutyric acid secretion	IEA	biological process
GO:0014049	positive regulation of glutamate secretion	IEA	biological process
GO:0012501	programmed cell death	IEA	biological process
GO:0010467	gene expression	IEA	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0008219	cell death	IEA	biological process
GO:0007009	plasma membrane organization	IEA	biological process
GO:0006954	inflammatory response	IEA	biological process
GO:0006900	vesicle budding from membrane	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0001934	positive regulation of protein phosphorylation	IEA	biological process
GO:0001916	positive regulation of T cell mediated cytotoxicity	IEA	biological process
GO:0001530	lipopolysaccharide binding	IEA	molecular function
GO:0097191	extrinsic apoptotic signaling pathway	IEA	biological process
GO:0072593	reactive oxygen species metabolic process	IEA	biological process
GO:0071407	cellular response to organic cyclic compound	IEA	biological process
GO:0071359	cellular response to dsRNA	IEA	biological process
GO:0051602	response to electrical stimulus	IEA	biological process
GO:0051209	release of sequestered calcium ion into cytosol	IEA	biological process
GO:0050718	positive regulation of interleukin-1 beta secretion	IEA	biological process
GO:0050714	positive regulation of protein secretion	IEA	biological process
GO:0045779	negative regulation of bone resorption	IEA	biological process
GO:0045332	phospholipid translocation	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0043410	positive regulation of MAPK cascade	IEA	biological process
GO:0043409	negative regulation of MAPK cascade	IEA	biological process
GO:0043132	NAD transport	IEA	biological process
GO:0043085	positive regulation of catalytic activity	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0001614	purinergic nucleotide receptor activity	IDA	molecular function
GO:0004931	extracellularly ATP-gated cation channel activity	IDA	molecular function
GO:0005524	ATP binding	IC	molecular function
GO:0001530	lipopolysaccharide binding	ISS	molecular function
GO:0005102	signaling receptor binding	ISS	molecular function
GO:0010524	positive regulation of calcium ion transport into cytosol	IDA	biological process
GO:0046931	pore complex assembly	IDA	biological process
GO:0005887	integral component of plasma membrane	IC	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0033198	response to ATP	IDA	biological process
GO:0050718	positive regulation of interleukin-1 beta secretion	IDA	biological process
GO:0050718	positive regulation of interleukin-1 beta secretion	IDA	biological process
GO:0051899	membrane depolarization	IDA	biological process
GO:0002028	regulation of sodium ion transport	ISS	biological process
GO:0030501	positive regulation of bone mineralization	ISS	biological process
GO:0032059	bleb	ISS	cellular component
GO:0051709	regulation of killing of cells of other organism	NAS	biological process
GO:0097190	apoptotic signaling pathway	ISS	biological process
GO:0042802	identical protein binding	ISS	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0005886	plasma membrane	ISS	cellular component
GO:0007166	cell surface receptor signaling pathway	ISS	biological process
GO:0019233	sensory perception of pain	ISS	biological process
GO:0032060	bleb assembly	ISS	biological process
GO:0043409	negative regulation of MAPK cascade	ISS	biological process
GO:0045779	negative regulation of bone resorption	ISS	biological process
GO:0097191	extrinsic apoptotic signaling pathway	ISS	biological process
GO:0051495	positive regulation of cytoskeleton organization	ISS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0098794	postsynapse	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0017121	plasma membrane phospholipid scrambling	IDA	biological process
GO:0046931	pore complex assembly	IMP	biological process
GO:0045794	negative regulation of cell volume	IMP	biological process
GO:1904172	positive regulation of bleb assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0035590	purinergic nucleotide receptor signaling pathway	IMP	biological process
GO:0034767	positive regulation of ion transmembrane transport	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04020	Calcium signaling pathway
hsa04621	NOD-like receptor signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R