P2RY12 (purinergic receptor P2Y12)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64805
Gene name Gene Name - the full gene name approved by the HGNC.
Purinergic receptor P2Y12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
P2RY12
Synonyms (NCBI Gene) Gene synonyms aliases
ADPG-R, BDPLT8, HORK3, P2T(AC), P2Y(12)R, P2Y(AC), P2Y(ADP), P2Y(cyc), P2Y12, SP1999
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q25.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 assay, Western blotting, qRT-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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600515 18124 ENSG00000169313
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Platelet-type bleeding disorder Platelet-type bleeding disorder 8 rs1560045738, rs755459581 N/A
Show/Hide Text Mining Associations (63)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 35247551
Acute Coronary Syndrome Associate 28070995, 28383427, 31766967, 34918066
Adenocarcinoma of Lung Associate 33318300
Alzheimer Disease Associate 31703599, 31968618, 35247551
Angina Unstable Associate 31766967
Astrocytoma Associate 28073370
Blood Platelet Disorders Associate 16194207, 17995973, 18577829, 22022533, 23647895, 24612435, 24745016, 27566695, 28383427, 29117459, 30406277, 36681816
Cardiovascular Diseases Associate 26870959, 28383427
Cerebral Infarction Associate 27133299, 27233747, 37208337
Chronic Disease Associate 24612435