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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 with high calcium permeability. The main pharmacological distinction between the members of the purinoceptor family is the relative sensitivity to the antagonists suramin and PPADS. The product of this gene has the lowest sensitivity for these antagonists. Multiple alternatively spliced transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012]
P2RX4 (Purinergic Receptor P2X 4) is a Protein Coding gene. Diseases associated with P2RX4 include Posterior Cerebral Artery Infarction and Chronic Fatigue Syndrome. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Ca, cAMP and Lipid Signaling. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ion channel activity. An important paralog of this gene is P2RX1.
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:0000166 | nucleotide binding | IEA | -- |
GO:0001614 | purinergic nucleotide receptor activity | IEA,IMP | 11606481 |
GO:0004931 | extracellularly ATP-gated cation channel activity | IEA,IDA | 9016352 |
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:0005765 | lysosomal membrane | HDA | 17897319 |
GO:0005886 | plasma membrane | ISS,TAS | 17299767 |
GO:0005887 | integral component of plasma membrane | IEA,ISS | -- |
GO:0014069 | postsynaptic density | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Platelet homeostasis | ||
2 | Ca, cAMP and Lipid Signaling | ||
3 | Neuroscience | ||
4 | Calcium signaling pathway | ||
5 | Peptide ligand-binding receptors |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001894 | tissue homeostasis | NAS | 17264311 |
GO:0002028 | regulation of sodium ion transport | ISS | 17785580 |
GO:0002931 | response to ischemia | ISS | -- |
GO:0006811 | ion transport | IEA | -- |
GO:0007165 | signal transduction | IDA | 9016352 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Eslicarbazepine | Approved | Pharma | Target | 0 | ||
Eslicarbazepine acetate | Approved | Pharma | Target, antagonist | 69 | ||
Promethazine | Approved, Investigational | Pharma | Target, inhibitor | 492 | ||
Ivermectin | Approved, Investigational, Vet_approved | Pharma | NAChR/purinergic P2X4 receptor modulator | 159 | ||
KN-93 | Pharma | CaMKII inhibitor,selective and cometitive | 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 |
---|---|---|
Ivermectin | NAChR/purinergic P2X4 receptor modulator | 70288-86-7 |
KN-93 | CaMKII inhibitor,selective and cometitive | 139298-40-1 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP7: | - | ||||||||||||||||||||||||||||||||||||||||||
SP8: | - | ||||||||||||||||||||||||||||||||||||||||||
SP9: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | P2RX4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | P2X4 31 |
|
OneToOne | |
P2RX4 30 |
|
||||
Cow (Bos Taurus) |
Mammalia | P2RX4 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | P2rx4 30 |
|
||
Mouse (Mus musculus) |
Mammalia | P2rx4 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | P2RX4 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | P2RX4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | P2RX4 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | P2RX4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | p2rx4 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | LOC398206 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | p2rx4a 30 31 |
|
OneToMany | |
p2rx4b 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs11829316 | Benign: not provided | 121,232,987(+) |
C/G NM_002560.3(P2RX4):c.1045-10C>G |
INTRON | |
rs147410500 | Likely Benign: not provided | 121,232,422(+) |
A/C NM_002560.3(P2RX4):c.893A>C (p.Lys298Thr) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
rs181464224 | Benign: not provided | 121,232,515(+) |
G/A NM_002560.3(P2RX4):c.978+8G>A |
INTRON | |
rs200492184 | Benign: not provided. - | 121,210,171(+) |
G/Tp.Gly3Cys NM_002560.3(P2RX4):c.7G>T (p.Gly3Cys) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
rs200553138 | Likely Benign: not provided | 121,217,193(+) |
C/T NM_002560.3(P2RX4):c.194C>T (p.Thr65Met) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT |
Disorder | Aliases | PubMed IDs |
---|---|---|
posterior cerebral artery infarction |
|
|
chronic fatigue syndrome |
|
|
anterior cerebral artery infarction |
|
|
chronic pain |
|
|
paine syndrome |
|
|