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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 Neuroscience and Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways. 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:0005623 | cell | IEA | -- |
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 |
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:0000187 | activation of MAPK activity | IEA | -- |
GO:0000902 | cell morphogenesis | IEA | -- |
GO:0001845 | phagolysosome assembly | IEA | -- |
GO:0001916 | positive regulation of T cell mediated cytotoxicity | IEA | -- |
GO:0001934 | positive regulation of protein phosphorylation | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
brilliant blue G | Approved | Pharma | Antagonist | 0 | ||
Promethazine | Approved, Investigational | Pharma | Target, inhibitor | 470 | ||
Fentanyl | Approved, Illicit, Investigational, Vet_approved | Pharma | Agonist, Full agonist, Partial agonist | 1229 | ||
Ivermectin | Approved, Investigational, Vet_approved | Pharma | activator | NAChR/purinergic P2X4 receptor modulator | 126 | |
DECAVANADATE | Pharma | Antagonist, Activator, Agonist | 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 |
---|---|---|---|---|---|
716590 | Benign: not provided | 121,162,416(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
716992 | Benign: not provided | 121,175,465(+) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
718081 | Likely Benign: not provided | 121,167,605(+) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
723307 | Likely Benign: not provided | 121,154,884(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
725343 | Benign: not provided | 121,154,893(+) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
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 |
|
|
ischemia |
|
|
pulmonary tuberculosis |
|