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Aliases for P2RY12 Gene

Aliases for P2RY12 Gene

  • Purinergic Receptor P2Y12 2 3
  • Purinergic Receptor P2Y, G-Protein Coupled, 12 2 3 5
  • P2Y12 Platelet ADP Receptor 3 4
  • ADP-Glucose Receptor 3 4
  • P2Y(ADP) 3 4
  • P2Y(Cyc) 3 4
  • P2T(AC) 3 4
  • P2Y(AC) 3 4
  • ADPG-R 3 4
  • SP1999 3 4
  • HORK3 3 4
  • P2Y12 3 4
  • Putative G-Protein Coupled Receptor 3
  • G-Protein Coupled Receptor SP1999 3
  • Gi-Coupled ADP Receptor HORK3 3
  • Purinergic Receptor P2RY12 3
  • P2Y(12)R 3
  • BDPLT8 3

External Ids for P2RY12 Gene

Previous GeneCards Identifiers for P2RY12 Gene

  • GC03M147996
  • GC03M151887
  • GC03M152336
  • GC03M152376
  • GC03M152538
  • GC03M151055
  • GC03M148428

Summaries for P2RY12 Gene

Entrez Gene Summary for P2RY12 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 is involved in platelet aggregation, and is a potential target for the treatment of thromboembolisms and other clotting disorders. Mutations in this gene are implicated in bleeding disorder, platelet type 8 (BDPLT8). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

GeneCards Summary for P2RY12 Gene

P2RY12 (Purinergic Receptor P2Y12) is a Protein Coding gene. Diseases associated with P2RY12 include bleeding disorder, platelet-type, 8 and clopidogrel resistance. Among its related pathways are Platelet activation and Paroxetine Pathway, Pharmacokinetics. GO annotations related to this gene include G-protein coupled receptor activity and G-protein coupled adenosine receptor activity. An important paralog of this gene is P2RY14.

UniProtKB/Swiss-Prot for P2RY12 Gene

  • 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.

Tocris Summary for P2RY12 Gene

  • P2Y receptors are G-protein-coupled receptors that respond to extracellular purine and pyrimidine nucleotides. To date, eight mammalian P2Y receptors are known (P2Y1, P2Y2, P2Y4, P2Y6, P2Y11-14) as well as the non-mammalian p2y3, p2y8 and p2y receptors.

Gene Wiki entry for P2RY12 Gene

PharmGKB "VIP" Summary for P2RY12 Gene

No data available for fRNAdb sequence ontologies and piRNA Summary for P2RY12 Gene

Genomics for P2RY12 Gene

Regulatory Elements for P2RY12 Gene

Enhancers for P2RY12 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around P2RY12 on UCSC Golden Path with GeneCards custom track

Promoters for P2RY12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around P2RY12 on UCSC Golden Path with GeneCards custom track

Genomic Location for P2RY12 Gene

Chromosome:
3
Start:
151,336,843 bp from pter
End:
151,384,812 bp from pter
Size:
47,970 bases
Orientation:
Minus strand

Genomic View for P2RY12 Gene

Genes around P2RY12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
P2RY12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for P2RY12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for P2RY12 Gene

Proteins for P2RY12 Gene

  • Protein details for P2RY12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H244-P2Y12_HUMAN
    Recommended name:
    P2Y purinoceptor 12
    Protein Accession:
    Q9H244
    Secondary Accessions:
    • D3DNJ5
    • Q546J7

    Protein attributes for P2RY12 Gene

    Size:
    342 amino acids
    Molecular mass:
    39439 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for P2RY12 Gene

neXtProt entry for P2RY12 Gene

Proteomics data for P2RY12 Gene at MOPED

Post-translational modifications for P2RY12 Gene

  • Glycosylation at Asn 6 and Asn 13
  • Modification sites at PhosphoSitePlus

Other Protein References for P2RY12 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for P2RY12

No data available for DME Specific Peptides for P2RY12 Gene

Domains & Families for P2RY12 Gene

Gene Families for P2RY12 Gene

Protein Domains for P2RY12 Gene

Suggested Antigen Peptide Sequences for P2RY12 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H244

UniProtKB/Swiss-Prot:

P2Y12_HUMAN :
  • The transmembrane domain is composed of seven transmembrane helices; most of these are not strictly perpendicular to the plane of the membrane, but are tilted and/or kinked. Agonist binding promotes a conformation change in the extracellular loops that leads to an inward movement of the transmembrane helices. Antagonists such as AZD1283 can bind to an overlapping site, but block the inward movement of the transmembrane helices (PubMed:24670650, PubMed:24784220).
  • Belongs to the G-protein coupled receptor 1 family.
Domain:
  • The transmembrane domain is composed of seven transmembrane helices; most of these are not strictly perpendicular to the plane of the membrane, but are tilted and/or kinked. Agonist binding promotes a conformation change in the extracellular loops that leads to an inward movement of the transmembrane helices. Antagonists such as AZD1283 can bind to an overlapping site, but block the inward movement of the transmembrane helices (PubMed:24670650, PubMed:24784220).
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with P2RY12: view

Function for P2RY12 Gene

Molecular function for P2RY12 Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with P2RY12: view

Human Phenotype Ontology for P2RY12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for P2RY12 Gene

MGI Knock Outs for P2RY12:

Animal Model Products

  • Taconic Biosciences Mouse Models for P2RY12

CRISPR Products

miRNA for P2RY12 Gene

miRTarBase miRNAs that target P2RY12

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for P2RY12 Gene

Localization for P2RY12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for P2RY12 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for P2RY12 Gene COMPARTMENTS Subcellular localization image for P2RY12 gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 2
cytoskeleton 1
cytosol 1

Gene Ontology (GO) - Cellular Components for P2RY12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0009925 basal plasma membrane IEA --
genes like me logo Genes that share ontologies with P2RY12: view

Pathways & Interactions for P2RY12 Gene

genes like me logo Genes that share pathways with P2RY12: view

Pathways by source for P2RY12 Gene

Gene Ontology (GO) - Biological Process for P2RY12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006930 substrate-dependent cell migration, cell extension IEA,ISS --
GO:0007186 G-protein coupled receptor signaling pathway IEA,IDA 11104774
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway IEA --
GO:0007596 blood coagulation TAS --
GO:0007599 hemostasis NAS 11196645
genes like me logo Genes that share ontologies with P2RY12: view

No data available for SIGNOR curated interactions for P2RY12 Gene

Drugs & Compounds for P2RY12 Gene

(47) Drugs for P2RY12 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Clopidogrel Approved Nutra antagonist, Target P2Y12 receptor antagonist 729
Ticagrelor Approved Pharma Target, inhibitor P2Y12 receptor antagonist 282
Prasugrel Approved Pharma inhibitor, Target, antagonist ADP receptor inhibitor 0
Treprostinil Approved, Investigational Pharma Full agonist, Agonist, agonist, Target 77
Ticlopidine Approved Pharma antagonist, Target 433

(27) Additional Compounds for P2RY12 Gene - From: Novoseek, IUPHAR, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
active metabolite of clopidogrel
Antagonist
Adpbetas
Agonist
ATPgammaS
Partial agonist, Agonist
2-Oxoclopidogrel

(5) Tocris Compounds for P2RY12 Gene

Compound Action Cas Number
2-Methylthioadenosine diphosphate trisodium salt Potent agonist for P2Y1, P2Y12 and P2Y13 475193-31-8
2-Methylthioadenosine triphosphate tetrasodium salt P2 purinergic agonist 100020-57-3
MRS 2365 Highly potent and selective P2Y1 agonist 436847-09-5
MRS 2693 trisodium salt Selective P2Y6 agonist 1448858-83-0
PSB 0474 Potent and selective P2Y6 agonist 917567-60-3

(3) ApexBio Compounds for P2RY12 Gene

Compound Action Cas Number
Clopidogrel P2Y12 receptor antagonist 120202-66-6
Prasugrel ADP receptor inhibitor 150322-43-3
Ticagrelor P2Y12 receptor antagonist 274693-27-5
genes like me logo Genes that share compounds with P2RY12: view

Transcripts for P2RY12 Gene

mRNA/cDNA for P2RY12 Gene

Unigene Clusters for P2RY12 Gene

Purinergic receptor P2Y, G-protein coupled, 12:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for P2RY12 Gene

No ASD Table

Relevant External Links for P2RY12 Gene

GeneLoc Exon Structure for
P2RY12
ECgene alternative splicing isoforms for
P2RY12

Expression for P2RY12 Gene

mRNA expression in normal human tissues for P2RY12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for P2RY12 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x8.0), Brain - Substantia nigra (x7.7), Brain - Amygdala (x5.4), Brain - Hippocampus (x4.4), and Brain - Hypothalamus (x4.4).

Protein differential expression in normal tissues from HIPED for P2RY12 Gene

This gene is overexpressed in Frontal cortex (26.2), Pancreatic juice (24.2), and Peripheral blood mononuclear cells (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for P2RY12 Gene



SOURCE GeneReport for Unigene cluster for P2RY12 Gene Hs.591281

mRNA Expression by UniProt/SwissProt for P2RY12 Gene

Q9H244-P2Y12_HUMAN
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.
genes like me logo Genes that share expression patterns with P2RY12: view

Protein tissue co-expression partners for P2RY12 Gene

- Elite partner

In Situ Assay Products

Orthologs for P2RY12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for P2RY12 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia P2RY12 35
  • 88.5 (n)
  • 90.27 (a)
P2RY12 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia P2RY12 35
  • 90.76 (n)
  • 94.4 (a)
P2RY12 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia P2ry12 35
  • 83.13 (n)
  • 88.99 (a)
P2ry12 16
P2ry12 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia P2RY12 35
  • 99.42 (n)
  • 99.71 (a)
P2RY12 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia P2ry12 35
  • 82.83 (n)
  • 88.25 (a)
oppossum
(Monodelphis domestica)
Mammalia P2RY12 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia P2RY12 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves P2RY12 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia P2RY12 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia p2ry12 35
  • 65.37 (n)
  • 64.56 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100149618 35
  • 59.02 (n)
  • 58.69 (a)
p2ry12 36
  • 52 (a)
OneToOne
Species with no ortholog for P2RY12:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for P2RY12 Gene

ENSEMBL:
Gene Tree for P2RY12 (if available)
TreeFam:
Gene Tree for P2RY12 (if available)

Paralogs for P2RY12 Gene

Paralogs for P2RY12 Gene

(12) SIMAP similar genes for P2RY12 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with P2RY12: view

Variants for P2RY12 Gene

Sequence variations from dbSNP and Humsavar for P2RY12 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_025383 Bleeding disorder, platelet-type 8 (BDPLT8)
VAR_025384 Bleeding disorder, platelet-type 8 (BDPLT8)
VAR_049431 -
VAR_072802 Bleeding disorder, platelet-type 8 (BDPLT8)

Structural Variations from Database of Genomic Variants (DGV) for P2RY12 Gene

Variant ID Type Subtype PubMed ID
nsv829757 CNV Loss 17160897
esv2726056 CNV Deletion 23290073
esv2400186 CNV Deletion 18987734
esv2726057 CNV Deletion 23290073
esv1169457 CNV Deletion 17803354

Variation tolerance for P2RY12 Gene

Residual Variation Intolerance Score: 36.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.46; 28.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for P2RY12 Gene

HapMap Linkage Disequilibrium report
P2RY12
Human Gene Mutation Database (HGMD)
P2RY12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for P2RY12 Gene

Disorders for P2RY12 Gene

MalaCards: The human disease database

(9) MalaCards diseases for P2RY12 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bleeding disorder, platelet-type, 8
  • bleeding disorder due to p2rx1 defect, somatic
clopidogrel resistance
  • cyp2c19-related poor drug metabolism
peripheral artery disease
  • peripheral arterial diseases
coronary thrombosis
  • coronary artery thrombosis
factor v leiden thrombophilia
  • thrombophilia due to activated protein c resistance
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

P2Y12_HUMAN
  • Bleeding disorder, platelet-type 8 (BDPLT8) [MIM:609821]: A condition characterized by mild to moderate mucocutaneous bleeding, and excessive bleeding after surgery or trauma. The defect is due to severe impairment of platelet response to ADP resulting in defective platelet aggregation. {ECO:0000269 PubMed:11196645, ECO:0000269 PubMed:12578987, ECO:0000269 PubMed:25428217}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for P2RY12

Genetic Association Database (GAD)
P2RY12
Human Genome Epidemiology (HuGE) Navigator
P2RY12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
P2RY12
genes like me logo Genes that share disorders with P2RY12: view

No data available for Genatlas for P2RY12 Gene

Publications for P2RY12 Gene

  1. Molecular cloning of the platelet P2T(AC) ADP receptor: pharmacological comparison with another ADP receptor, the P2Y1 receptor. (PMID: 11502873) Takasaki J. … Furuichi K. (Mol. Pharmacol. 2001) 2 3 4 23 67
  2. P2 receptor mRNA expression profiles in human lymphocytes, monocytes and CD34+ stem and progenitor cells. (PMID: 15291969) Wang L. … Erlinge D. (BMC Immunol. 2004) 23 25 26
  3. P2Y12, a new platelet ADP receptor, target of clopidogrel. (PMID: 15199474) Herbert J.M. … Savi P. (Semin Vasc Med 2003) 23 25 26
  4. In vivo blockade of platelet ADP receptor P2Y12 reduces embolus and thrombus formation but not thrombus stability. (PMID: 12615691) van Gestel M.A. … oude Egbrink M.G. (Arterioscler. Thromb. Vasc. Biol. 2003) 23 25 26
  5. The effect of P2Y-mediated platelet activation on the release of VEGF and endostatin from platelets. (PMID: 20063989) Bambace N.M. … Holmes C.E. (Platelets 2010) 3 23

Products for P2RY12 Gene

Sources for P2RY12 Gene

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