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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. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010]
P2RX7 (Purinergic Receptor P2X 7) is a Protein Coding gene. Diseases associated with P2RX7 include Tularemia and Extrapulmonary Tuberculosis. Among its related pathways are Toll-Like receptor Signaling Pathways and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity. An important paralog of this gene is P2RX4.
P2X receptors are members of the ligand-gated ion channel family that open in response to extracellular ATP. Each receptor is made up of a trimer of subunits (P2X1-7) all of which share the common structure of two transmembrane domains.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001530 | lipopolysaccharide binding | ISS | -- |
GO:0001614 | purinergic nucleotide receptor activity | IDA | 9038151 |
GO:0004931 | extracellularly ATP-gated cation channel activity | IBA,IDA | 9038151 |
GO:0005102 | signaling receptor binding | ISS | 17785580 |
GO:0005216 | ion channel activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005639 | integral component of nuclear inner membrane | IBA | 21873635 |
GO:0005737 | cytoplasm | ISS | -- |
GO:0005886 | plasma membrane | ISS,TAS | 17299767 |
GO:0005887 | integral component of plasma membrane | IC | 9038151 |
GO:0016020 | membrane | IDA | 17785580 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Platelet homeostasis | ||
2 | Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways |
.01
|
|
3 | Toll-Like receptor Signaling Pathways | ||
4 | Innate Immune System |
.61
|
|
5 | Ca, cAMP and Lipid Signaling |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002028 | regulation of sodium ion transport | ISS | 17785580 |
GO:0002931 | response to ischemia | NAS | 12849743 |
GO:0006811 | ion transport | IEA | -- |
GO:0007166 | cell surface receptor signaling pathway | ISS | -- |
GO:0007596 | blood coagulation | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
brilliant blue G | Approved | Pharma | Antagonist | 0 | ||
Promethazine | Approved, Investigational | Pharma | Target, inhibitor | 492 | ||
Fentanyl | Approved, Illicit, Investigational, Vet_approved | Pharma | 1308 | |||
Ivermectin | Approved, Investigational, Vet_approved | Pharma | activator | NAChR/purinergic P2X4 receptor modulator | 159 | |
DECAVANADATE | Pharma | Antagonist | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ATPgammaS tetralithium salt |
|
93839-89-5 |
|
|
Compound | Action | Cas Number |
---|---|---|
2-Methylthioadenosine triphosphate tetrasodium salt | P2 purinergic agonist | 100020-57-3 |
ATPgammaS tetralithium salt | P2 agonist; ATP (Cat. No. 3245) analog | 93839-89-5 |
NF 157 | Selective P2Y11/P2X1 antagonist | 104869-26-3 |
PPADS tetrasodium salt | P2 purinergic antagonist | 192575-19-2 |
Suramin hexasodium salt | Non-selective P2 antagonist | 129-46-4 |
Compound | Action | Cas Number |
---|---|---|
2-Methylthioadenosine triphosphate tetrasodium salt | 100020-57-3 | |
A 438079 | P2X7 receptor antagonist,competitive and selective | 899507-36-9 |
A 438079 hydrochloride | P2X7 receptor antagonist,competitive and selective | 899431-18-6 |
A 804598 | P2X7 antagonist,potent and selective | 1125758-85-1 |
A 839977 | P2X7 antagonist,potent and selective | 870061-27-1 |
A-740003 | P2X7 receptor antagonist | 861393-28-4 |
ATPγS tetralithium salt | 93839-89-5 | |
AZ 10606120 dihydrochloride | Potent P2X7 receptor antagonist | 607378-18-7 |
AZ 11645373 | Human P2X7 antagonist,potent and selective | 227088-94-0 |
BzATP triethylammonium salt | 112898-15-4 | |
GW791343 HCl | P2X7 allosteric modulator | 309712-55-8 |
iso-PPADS tetrasodium salt | P2 purinoceptors antagonist, specific | 207572-67-6 |
KN-62 | CaM kinase II inhibitor | 127191-97-3 |
KN-92 hydrochloride | Inactive derivative of KN-93,control compound | 1431698-47-3 |
KN-93 | CaMKII inhibitor,selective and cometitive | 139298-40-1 |
MRS 2219 | 14141-47-0 | |
NF 023 | 104869-31-0 | |
NF 110 | 111150-22-2 | |
NF 157 | 104869-26-3 | |
NF 279 | 202983-32-2 | |
NF 449 | purinergic receptor antagonist | 627034-85-9 |
PPADS tetrasodium salt | 192575-19-2 | |
PPNDS | 1021868-77-8 | |
Ro 0437626 | 134362-79-1 | |
Ro 51 | 1050670-85-3 | |
RO-3 | 1026582-88-6 | |
Suramin hexasodium salt | 129-46-4 | |
TNP-ATP triethylammonium salt | 61368-63-6 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP10: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | P2RX7 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | P2RX7 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | P2RX7 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | P2rx7 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | P2RX7 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | P2RX7 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | P2RX7 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100490828 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | p2X7 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | p2rx7 30 31 |
|
OneToOne | |
-- 30 |
|
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs112275589 | Benign: not provided | 121,154,893(+) |
T/C NM_002562.6(P2RX7):c.234T>C (p.Asn78=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs145127272 | Likely Benign: not provided | 121,154,884(+) |
C/T NM_002562.6(P2RX7):c.225C>T (p.Ile75=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs146725537 | Likely Benign: not provided. - | 121,167,605(+) |
T/Cp.Tyr288His NM_002562.6(P2RX7):c.862T>C (p.Tyr288His) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
rs16950860 | Benign: not provided. - | 121,167,551(+) |
C/Tp.Arg270Cys NM_002562.6(P2RX7):c.808C>T (p.Arg270Cys) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
rs201778812 | Benign: not provided | 121,162,416(+) |
C/T NM_002562.6(P2RX7):c.437-8C>T |
NON_CODING_TRANSCRIPT_VARIANT,INTRON |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv307e214 | CNV | gain | 21293372 |
dgv319e199 | CNV | deletion | 23128226 |
esv26396 | CNV | gain | 19812545 |
esv2746483 | CNV | deletion | 23290073 |
esv2759917 | CNV | loss | 17122850 |
esv3630934 | CNV | loss | 21293372 |
esv3630940 | CNV | loss | 21293372 |
esv3630941 | CNV | loss | 21293372 |
esv3630942 | CNV | loss | 21293372 |
esv3630943 | CNV | loss | 21293372 |
nsv1054878 | CNV | gain | 25217958 |
nsv1127298 | CNV | deletion | 24896259 |
nsv521928 | CNV | gain | 19592680 |
nsv560454 | CNV | loss | 21841781 |
nsv560455 | CNV | gain | 21841781 |
nsv832531 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
tularemia |
|
|
extrapulmonary tuberculosis |
|
|
leukemia, chronic lymphocytic |
|
|
pulmonary tuberculosis |
|
|
postherpetic neuralgia |
|
|