P2RY12 (purinergic receptor P2Y12)

2013-11-01  

Identity

HGNC
LOCATION
3q25.1
LOCUSID
ALIAS
ADPG-R,BDPLT8,HORK3,P2T(AC),P2Y(12)R,P2Y(AC),P2Y(ADP),P2Y(cyc),P2Y12,SP1999

Other Information

Locus ID:

NCBI: 64805
MIM: 600515
HGNC: 18124
Ensembl: ENSG00000169313

Variants:

dbSNP: 64805
ClinVar: 64805
TCGA: ENSG00000169313
COSMIC: P2RY12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169313ENST00000302632Q9H244

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Platelet activationKEGGhsa04611
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Signal amplificationREACTOMER-HSA-392518
ADP signalling through P2Y purinoceptor 12REACTOMER-HSA-392170
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class A/1 (Rhodopsin-like receptors)REACTOMER-HSA-373076
Nucleotide-like (purinergic) receptorsREACTOMER-HSA-418038
P2Y receptorsREACTOMER-HSA-417957
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (i) signalling eventsREACTOMER-HSA-418594

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA154410481prasugrelChemicalLiterature, MultilinkAnnotation, Pathwayassociated20938371, 24951432
PA165108401Acute coronary syndromeDiseaseClinicalAnnotationassociatedPD12912815, 14662702, 15795539, 16181985, 16405973, 16581111, 16769602, 16961627, 17337040, 17803810, 18004210, 18577829, 19576320, 22990067, 23751603, 24262617, 25730082, 27380588, 27566695
PA165374673ticagrelorChemicalLiterature, MultilinkAnnotationassociated24951432
PA165945763cangrelorChemicalClinicalAnnotationassociatedPD20126830
PA166129560major adverse cardiac events (mace)DiseaseClinicalAnnotationassociatedPD16405973
PA166156339rs2046934VariantVipGeneassociated14662702, 17337040, 12912815
PA172GNAI1GenePathwayassociated20938371
PA173GNAI3GenePathwayassociated20938371
PA176GNB3GenePathwayassociated20938371
PA24347GNAI2GenePathwayassociated20938371
PA443362Angina PectorisDiseaseClinicalAnnotationassociatedPD12912815, 14662702, 15795539, 16181985, 16405973, 16581111, 16769602, 16961627, 17337040, 17803810, 18004210, 18577829, 19576320, 22990067, 23751603, 24262617, 25730082, 27380588, 27566695
PA443635Cardiovascular DiseasesDiseaseVipGeneassociated
PA443672Ischemic Attack, TransientDiseaseVariantAnnotationnot associatedPD27450232
PA443783Constriction, PathologicDiseaseVariantAnnotationnot associatedPD27450232
PA443796Coronary Artery DiseaseDiseaseClinicalAnnotationassociatedPD15933261, 18485500, 19106083, 26362473
PA443797Coronary DiseaseDiseaseClinicalAnnotationassociatedPD27566695
PA447054StrokeDiseaseVariantAnnotationnot associatedPD27450232
PA449053clopidogrelChemicalClinicalAnnotation, Literature, MultilinkAnnotation, VariantAnnotation, VipGeneambiguousPD12912815, 14662702, 15795539, 15933261, 15955565, 16181985, 16405973, 16581111, 16769602, 16961627, 17337040, 17803810, 18004210, 18485500, 18577829, 19106083, 19576320, 21831410, 22990067, 23751603, 24262617, 24951432, 25730082, 26362473, 27380588, 27450232, 27566695
PA449177cytarabineChemicalMultilinkAnnotationassociated24444404
PA451686ticlopidineChemicalPathway, VipGeneassociated15955565, 20938371

References

Pubmed IDYearTitleCitations
191060832009Genetic determinants of response to clopidogrel and cardiovascular events.288
200682322010Basal release of ATP: an autocrine-paracrine mechanism for cell regulation.113
195259442009Adenosine A(2A) receptor mediates microglial process retraction.99
246706502014Structure of the human P2Y12 receptor in complex with an antithrombotic drug.92
198226472009Leukotriene E4-induced pulmonary inflammation is mediated by the P2Y12 receptor.86
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
129128152003Adenosine diphosphate-induced platelet aggregation is associated with P2Y12 gene sequence variations in healthy subjects.72
247842202014Agonist-bound structure of the human P2Y12 receptor.64
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
156651142005P2Y1 and P2Y12 receptors for ADP desensitize by distinct kinase-dependent mechanisms.49

Citation

Dessen P

P2RY12 (purinergic receptor P2Y12)

Atlas Genet Cytogenet Oncol Haematol. 2013-11-01

Online version: http://atlasgeneticsoncology.org/gene/53601/p2ry12