Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 5024
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol P2RX3   Gene   UCSC   Ensembl
Aliases P2X3
Gene name purinergic receptor P2X 3
Alternate names P2X purinoceptor 3, ATP receptor, P2X receptor, subunit 3, purinergic receptor P2X, ligand gated ion channel, 3, purinergic receptor P2X3, purinoceptor P2X3,
Gene location 11q12.1 (169620520: 169723186)     Exons: 16     NC_000004.12
Gene summary(Entrez) 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]
OMIM 600843

Protein Summary

Protein general information P56373  

Name: P2X purinoceptor 3 (P2X3) (ATP receptor) (Purinergic receptor)

Length: 397  Mass: 44,289

Sequence MNCISDFFTYETTKSVVVKSWTIGIINRVVQLLIISYFVGWVFLHEKAYQVRDTAIESSVVTKVKGSGLYANRVM
DVSDYVTPPQGTSVFVIITKMIVTENQMQGFCPESEEKYRCVSDSQCGPERLPGGGILTGRCVNYSSVLRTCEIQ
GWCPTEVDTVETPIMMEAENFTIFIKNSIRFPLFNFEKGNLLPNLTARDMKTCRFHPDKDPFCPILRVGDVVKFA
GQDFAKLARTGGVLGIKIGWVCDLDKAWDQCIPKYSFTRLDSVSEKSSVSPGYNFRFAKYYKMENGSEYRTLLKA
FGIRFDVLVYGNAGKFNIIPTIISSVAAFTSVGVGTVLCDIILLNFLKGADQYKAKKFEEVNETTLKIAALTNPV
YPSDQTTAEKQSTDSGAFSIGH
Structural information
Interpro:  IPR003046 IPR027309 IPR001429
Prosite:   PS01212

Pfam:  
PF00864

PDB:  
5SVJ 5SVK 5SVL 5SVM 5SVP 5SVQ 5SVR 5SVS 5SVT
PDBsum:   5SVJ 5SVK 5SVL 5SVM 5SVP 5SVQ 5SVR 5SVS 5SVT
STRING:   ENSP00000263314;
Other Databases GeneCards:  P2RX3;  Malacards:  P2RX3

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001614 purinergic nucleotide rec
eptor activity
IBA molecular_function
GO:0001614 purinergic nucleotide rec
eptor activity
NAS molecular_function
GO:0001666 response to hypoxia
IEA biological_process
GO:0004931 extracellular ATP-gated c
ation channel activity
NAS molecular_function
GO:0005524 ATP binding
NAS molecular_function
GO:0005639 integral component of nuc
lear inner membrane
IBA cellular_component
GO:0005791 rough endoplasmic reticul
um
IEA cellular_component
GO:0005794 Golgi apparatus
IEA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
IEA cellular_component
GO:0006810 transport
TAS biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0007274 neuromuscular synaptic tr
ansmission
IEA biological_process
GO:0007596 blood coagulation
TAS biological_process
GO:0009408 response to heat
IEA biological_process
GO:0009409 response to cold
IEA biological_process
GO:0009612 response to mechanical st
imulus
IEA biological_process
GO:0009743 response to carbohydrate
IEA biological_process
GO:0010524 positive regulation of ca
lcium ion transport into
cytosol
NAS biological_process
GO:0014832 urinary bladder smooth mu
scle contraction
IEA biological_process
GO:0019228 neuronal action potential
IEA biological_process
GO:0030432 peristalsis
IEA biological_process
GO:0033198 response to ATP
IEA biological_process
GO:0035590 purinergic nucleotide rec
eptor signaling pathway
IEA biological_process
GO:0043025 neuronal cell body
IEA cellular_component
GO:0043195 terminal bouton
IEA cellular_component
GO:0043197 dendritic spine
IEA cellular_component
GO:0043235 receptor complex
IDA cellular_component
GO:0045121 membrane raft
IEA cellular_component
GO:0048167 regulation of synaptic pl
asticity
IEA biological_process
GO:0050850 positive regulation of ca
lcium-mediated signaling
NAS biological_process
GO:0050909 sensory perception of tas
te
IEA biological_process
GO:0051260 protein homooligomerizati
on
IEA biological_process
GO:0061368 behavioral response to fo
rmalin induced pain
IEA biological_process
GO:0098655 cation transmembrane tran
sport
IEA biological_process
GO:1904058 positive regulation of se
nsory perception of pain
IEA biological_process
GO:0001614 purinergic nucleotide rec
eptor activity
IEA molecular_function
GO:0001614 purinergic nucleotide rec
eptor activity
IBA molecular_function
GO:0001614 purinergic nucleotide rec
eptor activity
NAS molecular_function
GO:0001666 response to hypoxia
IEA biological_process
GO:0004931 extracellular ATP-gated c
ation channel activity
IEA molecular_function
GO:0004931 extracellular ATP-gated c
ation channel activity
IEA molecular_function
GO:0004931 extracellular ATP-gated c
ation channel activity
NAS molecular_function
GO:0004931 extracellular ATP-gated c
ation channel activity
TAS molecular_function
GO:0005216 ion channel activity
IEA molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005524 ATP binding
NAS molecular_function
GO:0005639 integral component of nuc
lear inner membrane
IBA cellular_component
GO:0005791 rough endoplasmic reticul
um
IEA cellular_component
GO:0005794 Golgi apparatus
IEA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
IEA cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0006810 transport
IEA biological_process
GO:0006810 transport
TAS biological_process
GO:0006811 ion transport
IEA biological_process
GO:0006811 ion transport
IEA biological_process
GO:0006811 ion transport
IEA biological_process
GO:0006812 cation transport
IEA biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0007268 chemical synaptic transmi
ssion
IEA biological_process
GO:0007274 neuromuscular synaptic tr
ansmission
IEA biological_process
GO:0007596 blood coagulation
TAS biological_process
GO:0009266 response to temperature s
timulus
IEA biological_process
GO:0009408 response to heat
IEA biological_process
GO:0009409 response to cold
IEA biological_process
GO:0009612 response to mechanical st
imulus
IEA biological_process
GO:0009743 response to carbohydrate
IEA biological_process
GO:0010033 response to organic subst
ance
IEA biological_process
GO:0010524 positive regulation of ca
lcium ion transport into
cytosol
NAS biological_process
GO:0014832 urinary bladder smooth mu
scle contraction
IEA biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0019228 neuronal action potential
IEA biological_process
GO:0030424 axon
IEA cellular_component
GO:0030432 peristalsis
IEA biological_process
GO:0033198 response to ATP
IEA biological_process
GO:0033198 response to ATP
IEA biological_process
GO:0035590 purinergic nucleotide rec
eptor signaling pathway
IEA biological_process
GO:0043005 neuron projection
IEA cellular_component
GO:0043025 neuronal cell body
IEA cellular_component
GO:0043195 terminal bouton
IEA cellular_component
GO:0043197 dendritic spine
IEA cellular_component
GO:0043235 receptor complex
IDA cellular_component
GO:0045121 membrane raft
IEA cellular_component
GO:0048167 regulation of synaptic pl
asticity
IEA biological_process
GO:0048266 behavioral response to pa
in
IEA biological_process
GO:0050850 positive regulation of ca
lcium-mediated signaling
NAS biological_process
GO:0050909 sensory perception of tas
te
IEA biological_process
GO:0051260 protein homooligomerizati
on
IEA biological_process
GO:0061368 behavioral response to fo
rmalin induced pain
IEA biological_process
GO:0098655 cation transmembrane tran
sport
IEA biological_process
GO:1904058 positive regulation of se
nsory perception of pain
IEA biological_process
GO:0001614 purinergic nucleotide rec
eptor activity
IBA molecular_function
GO:0001614 purinergic nucleotide rec
eptor activity
NAS molecular_function
GO:0004931 extracellular ATP-gated c
ation channel activity
NAS molecular_function
GO:0004931 extracellular ATP-gated c
ation channel activity
TAS molecular_function
GO:0005524 ATP binding
NAS molecular_function
GO:0005639 integral component of nuc
lear inner membrane
IBA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0006810 transport
TAS biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0007596 blood coagulation
TAS biological_process
GO:0010524 positive regulation of ca
lcium ion transport into
cytosol
NAS biological_process
GO:0043235 receptor complex
IDA cellular_component
GO:0050850 positive regulation of ca
lcium-mediated signaling
NAS biological_process

KEGG pathways

hsa04742  Taste transduction
hsa04020  Calcium signaling pathway
hsa04080  Neuroactive ligand-receptor interaction

Diseases

Associated diseases References
Endometriosis INFBASE28898282

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
28898282 Endometrio
sis



Show abstract