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This gene encodes a member of the P2X purinergic receptor (purinoceptor) gene family which includes seven members (P2RX1 - P2RX7). P2X purinoceptors are a family of cation-permeable, ligand-gated ion channels that open in response to the binding of extracellular adenosine 5'-triphosphate (ATP). The encoded protein is a subunit of the trimeric P2X3 receptor ion channel which is expressed by sensory or autonomic neurons. A deficiency of the orthologous protein in mice is associated with reduced pain-related behavior and urinary bladder hyporeflexia. [provided by RefSeq, Aug 2017]
P2RX3 (Purinergic Receptor P2X 3) is a Protein Coding gene. Diseases associated with P2RX3 include Interstitial Cystitis and Low Compliance Bladder. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Platelet homeostasis. Gene Ontology (GO) annotations related to this gene include ion channel activity and extracellularly ATP-gated cation channel activity. An important paralog of this gene is P2RX2.
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,NAS | 17895406 |
GO:0004931 | extracellularly ATP-gated cation channel activity | IEA,NAS | 17895406 |
GO:0005216 | ion channel activity | IEA | -- |
GO:0005524 | ATP binding | IEA,NAS | 17895406 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005639 | integral component of nuclear inner membrane | IBA | 21873635 |
GO:0005791 | rough endoplasmic reticulum | IEA | -- |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IEA,IMP | 27626375 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Platelet homeostasis | ||
2 | Calcium signaling pathway | ||
3 | Peptide ligand-binding receptors | ||
4 | Taste transduction | ||
5 | CREB Pathway |
Intracellular Calcium Signaling
.50
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001666 | response to hypoxia | IEA | -- |
GO:0006811 | ion transport | IEA | -- |
GO:0006812 | cation transport | IEA | -- |
GO:0007165 | signal transduction | TAS | 9221902 |
GO:0007268 | chemical synaptic transmission | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Promethazine | Approved, Investigational | Pharma | Target, inhibitor | 492 | ||
BzATP | Pharma | Agonist, Full agonist | 0 | |||
TNP-ATP | Pharma | Antagonist | 0 | |||
2-Methylthioadenosine triphosphate tetrasodium salt | Pharma | P2 purinergic agonist | 0 | |||
NF 157 | Pharma | Selective P2Y11/P2X1 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-317491 | P2X3 and P2X2/3 receptor antagonist | 475205-49-3 |
BzATP triethylammonium salt | 112898-15-4 | |
iso-PPADS tetrasodium salt | P2 purinoceptors antagonist, specific | 207572-67-6 |
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 | |
TC-P 262 | 873398-67-5 | |
TNP-ATP triethylammonium salt | 61368-63-6 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||
SP3: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | P2RX3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | P2X3 31 |
|
OneToOne | |
P2RX3 30 |
|
||||
Mouse (Mus musculus) |
Mammalia | P2rx3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | P2rx3 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | P2RX3 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | P2RX3 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | P2RX3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LOC423134 30 |
|
||
P2RX3 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | P2RX3 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | p2rx3b 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs115850675 | Benign: not provided | 57,348,212(+) |
G/A NM_002559.5(P2RX3):c.434G>A (p.Arg145Gln) |
MISSENSE | |
rs547284438 | Likely Benign: not provided | 57,338,558(+) |
GC/G NM_002559.5(P2RX3):c.9del (p.Asn2_Cys3insTer) |
NONSENSE | |
rs77399385 | Benign: not provided | 57,369,351(+) |
C/A NM_002559.5(P2RX3):c.1003-10C>A |
||
rs2276038 | - |
p.Ala383Val |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1144568 | CNV | deletion | 24896259 |
Disorder | Aliases | PubMed IDs |
---|---|---|
interstitial cystitis |
|
|
low compliance bladder |
|
|
detrusor sphincter dyssynergia |
|
|
femoral cancer |
|
|
cystitis |
|
|