P2RY12 (purinergic receptor P2Y12)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 64805
Gene name Purinergic receptor P2Y12
Gene symbol P2RY12
Synonyms (NCBI Gene)
ADPG-RBDPLT8HORK3P2T(AC)P2Y(12)RP2Y(AC)P2Y(ADP)P2Y(cyc)P2Y12SP1999
Chromosome 3
Chromosome location 3q25.1
Summary The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor
miRNA miRNA information provided by mirtarbase database.
6
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (6)
miRTarBase ID miRNA Experiments Reference
MIRT734348 hsa-miR-605-5p Luciferase reporter assayWestern blottingqRT-PCR 31766967
MIRT1209011 hsa-miR-223 CLIP-seq
MIRT1209012 hsa-miR-3977 CLIP-seq
MIRT1209013 hsa-miR-4778-3p CLIP-seq
MIRT1209014 hsa-miR-889 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
56
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (56)
GO ID Ontology Definition Evidence Reference
GO:0001609 Function G protein-coupled adenosine receptor activity IEA
GO:0001621 Function G protein-coupled ADP receptor activity IDA 11104774
GO:0001621 Function G protein-coupled ADP receptor activity IEA
GO:0001621 Function G protein-coupled ADP receptor activity IMP 12578987
GO:0001973 Process G protein-coupled adenosine receptor signaling pathway IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600515 18124 ENSG00000169313
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H244
Protein name P2Y purinoceptor 12 (P2Y12) (ADP-glucose receptor) (ADPG-R) (P2T(AC)) (P2Y(AC)) (P2Y(cyc)) (P2Y12 platelet ADP receptor) (P2Y(ADP)) (SP1999)
Protein function Receptor for ADP and ATP coupled to G-proteins that inhibit the adenylyl cyclase second messenger system. Not activated by UDP and UTP. Required for normal platelet aggregation and blood coagulation. {ECO:0000269|PubMed:11104774, ECO:0000269|Pub
PDB 4NTJ , 4PXZ , 4PY0 , 7PP1 , 7XXI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00001 7tm_1 42 → 298 7 transmembrane receptor (rhodopsin family) Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in the platelets, lower levels in the brain. Lowest levels in the lung, appendix, pituitary and adrenal gland. Expressed in the spinal cord and in the fetal brain. {ECO:0000269|PubMed:11104774, ECO:0000269|PubMed:11196
Sequence
Sequence length 342
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Efferocytosis
Platelet activation 		  ADP signalling through P2Y purinoceptor 12
P2Y receptors
G alpha (i) signalling events
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormal platelet function Likely pathogenic rs1577367082 RCV000852145
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Impaired ADP-induced platelet aggregation Likely pathogenic; Pathogenic rs755459581 RCV000851950
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
P2RY12-related disorder Likely pathogenic rs923308300 RCV003966918
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Platelet-type bleeding disorder 8 Pathogenic; Likely pathogenic rs1560045738, rs2473271725, rs755459581 RCV000009649
RCV003314541
RCV000661901
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (19)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Abnormal bleeding Uncertain significance; Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLEEDING DISORDER DUE TO P2RY12 DEFECT — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLEEDING DISORDER DUE TO P2Y12 DEFECT — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (130)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 22240602, 22360514, 22724420, 23506580, 24262612, 24378837, 25916521, 26453416, 27922911, 28110541, 28204303, 28222641, 28262344, 28325638, 28374678
View all (51 more)
★★★★★
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Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28344198
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 25379720
★★★★★
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 23612493
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 31703599, 31968618, 35247551 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 29250069
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 31387441
★★★★★
★☆☆☆☆
Found in Text Mining only
Angina Unstable Angina pectoris Pubtator 31766967 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Angina, Unstable Intermediate coronary syndrome BEFREE 29309286, 29596078
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 14662702
★★★★★
★☆☆☆☆
Found in Text Mining only