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The protein encoded by this gene belongs to the family of P2X receptors, which are ATP-gated ion channels and mediate rapid and selective permeability to cations. This gene is predominantly expressed in skeletal muscle, and regulated by p53. The encoded protein is associated with VE-cadherin at the adherens junctions of human umbilical vein endothelial cells. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 22, has been identified. [provided by RefSeq, Apr 2009]
P2RX6 (Purinergic Receptor P2X 6) is a Protein Coding gene. Diseases associated with P2RX6 include Schizophrenia 5 and Heparin Cofactor Ii Deficiency. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Platelet homeostasis. Gene Ontology (GO) annotations related to this gene include identical protein binding and ion channel activity. An important paralog of this gene is P2RX5.
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:0001614 | purinergic nucleotide receptor activity | IEA,NAS | 12088286 |
GO:0004888 | transmembrane signaling receptor activity | TAS | 9242461 |
GO:0004931 | extracellularly ATP-gated cation channel activity | IBA,NAS | 12088286 |
GO:0005216 | ion channel activity | IEA | -- |
GO:0005524 | ATP binding | IEA,NAS | 12088286 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005639 | integral component of nuclear inner membrane | IBA | 21873635 |
GO:0005737 | cytoplasm | IDA | 12088286 |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS | 9242461 |
GO:0014069 | postsynaptic density | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Platelet homeostasis | ||
2 | Calcium signaling pathway | ||
3 | Peptide ligand-binding receptors | ||
4 | CREB Pathway |
Intracellular Calcium Signaling
.50
|
|
5 | Response to elevated platelet cytosolic Ca2+ |
.44
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006936 | muscle contraction | TAS | 9242461 |
GO:0007165 | signal transduction | TAS | 9242461 |
GO:0007596 | blood coagulation | TAS | -- |
GO:0033198 | response to ATP | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Promethazine | Approved, Investigational | Pharma | Target, inhibitor | 492 | ||
KN-93 | Pharma | CaMKII inhibitor,selective and cometitive | 0 | |||
2-Methylthioadenosine triphosphate tetrasodium salt | Pharma | P2 purinergic agonist | 0 | |||
NF 157 | Pharma | Selective P2Y11/P2X1 antagonist | 0 | |||
PPADS tetrasodium salt | Pharma | P2 purinergic 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 |
---|---|---|
KN-93 | CaMKII inhibitor,selective and cometitive | 139298-40-1 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | · | 12c | ^ | 13 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | |||||||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||||||||
SP8: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | P2RX6 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | P2rx6 30 17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | P2RX6 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | P2rx6 30 |
|
||
Cow (Bos Taurus) |
Mammalia | P2RX6 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | P2RX6 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | LOC429367 30 |
|
||
P2RX6 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | P2RX6 31 |
|
OneToOne |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4483n100 | CNV | gain | 25217958 |
dgv7993n54 | CNV | gain | 21841781 |
dgv7994n54 | CNV | gain | 21841781 |
esv2678175 | CNV | deletion | 23128226 |
esv2763693 | CNV | gain | 21179565 |
esv3647304 | CNV | loss | 21293372 |
esv3647305 | CNV | gain | 21293372 |
esv3647307 | CNV | loss | 21293372 |
esv3647308 | CNV | loss | 21293372 |
esv3893441 | CNV | gain+loss | 25118596 |
nsv1056614 | CNV | loss | 25217958 |
nsv1062280 | CNV | gain | 25217958 |
nsv1065617 | CNV | gain | 25217958 |
nsv3563 | CNV | deletion | 18451855 |
nsv436864 | CNV | insertion | 17901297 |
nsv471185 | CNV | loss | 18288195 |
nsv523162 | CNV | loss | 19592680 |
nsv588305 | CNV | loss | 21841781 |
nsv588306 | CNV | gain | 21841781 |
nsv828960 | CNV | loss | 20364138 |
nsv828961 | CNV | gain | 20364138 |
nsv834141 | CNV | loss | 17160897 |
nsv834142 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
schizophrenia 5 |
|
|
heparin cofactor ii deficiency |
|
|