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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

P2RY12 Gene

protein-coding   GIFtS: 62
GCID: GC03M151055

purinergic receptor P2Y, G-protein coupled, 12
 Explore 24 diseases affiliated with
P2RY12 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for P2RY12    

Aliases
for P2RY12 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Purinergic Receptor P2Y, G-Protein Coupled, 121 2     ADP-Glucose Receptor2 3
P2Y121 2 3 5     P2Y12 Platelet ADP Receptor2 3
HORK31 2 3     BDPLT82
SP19991 2 3     P2Y(12)R2
ADPG-R2 3     G-Protein Coupled Receptor SP19992
P2T(AC)2 3     Gi-Coupled ADP Receptor HORK32
P2Y(AC)2 3     P2Y Purinoceptor 122
P2Y(ADP)2 3     Purinergic Receptor P2RY122
P2Y(Cyc)1     Putative G-Protein Coupled Receptor2

External Ids:    HGNC: 181241   Entrez Gene: 648052   Ensembl: ENSG000001693137   OMIM: 6005155   UniProtKB: Q9H2443   

Export aliases for P2RY12 gene to outside databases

Previous GC identifers: GC03M147996 GC03M151887 GC03M152336 GC03M152376 GC03M152538 GC03M148428


Summaries
for P2RY12 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for P2RY12:
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 platelets aggregation, and is a potential target for the treatment of
thromboembolisms and other clotting disorders. Two transcript variants encoding the same isoform have been identified
for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: P2Y12_HUMAN, Q9H244
Function: Receptor for ADP and ATP coupled to G-proteins that inhibit the adenylyl cyclase second messenger system. Not
activated by UDP and UTP. Involved in platelet aggregation

summary for P2RY12:
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, P2Y12, P2Y13
and P2Y14) as well as the non-mammalian chick p2y3, Xenopus p2y8 and turkey p2y receptors. p2y9 and p2y10
receptors are considered to be orphan receptors, and p2y5 is now known to actually be a leukotriene B4
receptor. P2Y receptor signaling is mediated through coupling to G proteins, mainly Gq/11, with P2Y12, P2Y13
and P2Y14 signaling through Gi/o. Activation of P2Y receptors initiates a wide range of signaling cascades
including PLCbeta, PLD, PLA2, AC and MAPK/MEK kinase. P2Y receptors are found in most human tissues. They
have diverse physiological roles including regulation of platelet aggregation, muscle contraction,
neurotransmission, and epithelial cell communication and migration.

Gene Wiki entry for P2RY12 (P2Y12)

PharmGKB "VIP" summary for P2RY12


Genomic Views
for P2RY12 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the P2RY12 gene promoter:
         AhR   Pax-2   Pax-2a   POU3F2   LCR-F1   Arnt   PPAR-alpha   HFH-1   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): P2RY12 promoter sequence
   Search SABiosciences Chromatin IP Primers for P2RY12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat P2RY12


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q24-q25   Ensembl cytogenetic band:  3q25.1   HGNC cytogenetic band: 3q24-q25

P2RY12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
P2RY12 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M151055:  view genomic region     (about GC identifiers)

Start:
 151,055,168 bp from pter      End:
 151,102,600 bp from pter
Size:
 47,433 bases      Orientation:
 minus strand

Proteins
for P2RY12 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: P2Y12_HUMAN, Q9H244 (See protein sequence)
Recommended Name: P2Y purinoceptor 12  
Size: 342 amino acids; 39439 Da
Subcellular location: Cell membrane; Multi-pass membrane protein
3 PDB 3D structures from and Proteopedia for P2RY12:
1T78 (3D)        1VZ1 (3D)        1Y9C (3D)    
Secondary accessions: D3DNJ5 Q546J7

Explore the universe of human proteins at neXtProt for P2RY12: NX_Q9H244

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H244

    • P2RY12 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_073625.1  NP_795345.1  

    ENSEMBL proteins: 
     ENSP00000307259  
    Reactome Protein details: Q9H244
    Human Recombinant Protein Products: 
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    Uscn Proteins for P2RY12

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005886plasma membrane TAS--
    GO:0005901caveola IEA--
    GO:0009897external side of plasma membrane IEA--
    GO:0009925basal plasma membrane IEA--


    P2RY12 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for P2RY12

    Protein Domains /
    Families
    for P2RY12 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    P2RY12 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR017452 GPCR_Rhodpsn_7TM
     IPR005394 P2Y12_purnocptor
     IPR002286 P2_purnocptor
     IPR000276 GPCR_Rhodpsn

    Graphical View of Domain Structure for InterPro Entry Q9H244

    ProtoNet protein and cluster: Q9H244

    1 Blocks protein family: IPB005394 P2Y12 purinoceptor signature

    UniProtKB/Swiss-Prot: P2Y12_HUMAN, Q9H244
    Similarity: Belongs to the G-protein coupled receptor 1 family


    Function
    for P2RY12 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: P2Y12_HUMAN, Q9H244
    Function: Receptor for ADP and ATP coupled to G-proteins that inhibit the adenylyl cyclase second messenger system. Not
    activated by UDP and UTP. Involved in platelet aggregation

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: P2RY12 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for P2RY12 (see all 4)
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001609G-protein coupled adenosine receptor activity IEA--
    GO:0001621ADP receptor activity IEA--
    GO:0005085guanyl-nucleotide exchange factor activity TAS--


    P2RY12 for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for P2RY12:
     Decreased POU5F1-GFP protein e  Decreased influenza A/WSN/33 r  Increased gamma-H2AX phosphory 

    Animal Models:
         Mouse knock-outs for P2RY12: P2ry12tm1Pcon P2ry12tm1Cjf
         3 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for P2ry12):
     hematopoietic system  homeostasis/metabolism  normal 

    P2RY12 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for P2RY12 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Class A/1 (Rhodopsin-like receptors)
    		Class A/1 (Rhodopsin-like receptors)1.00
    		G alpha (i) signalling events0.44
    		GPCR ligand binding0.75
    		GPCRs, Class A Rhodopsin-like0.41
    2Signaling by GPCR
    		Signaling by GPCR1.00
    		Signal Transduction0.56
    		GPCR downstream signaling0.89
    3Platelet activation, signaling and aggregation
    		Platelet activation, signaling and aggregation1.00
    		Hemostasis0.43
    4Nucleotide-like (purinergic) receptors
    		Nucleotide-like (purinergic) receptors1.00
    		P2Y receptors0.75
    5Platelet Aggregation Inhibitor Pathway, Pharmacodynamics
    		Platelet Aggregation Inhibitor Pathway, Pharmacodynamics1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for P2RY12
        P2Y Receptor Signaling

    1 BioSystems Pathway for P2RY12 
        GPCRs, Class A Rhodopsin-like

    5/12        Reactome Pathways for P2RY12 (see all 12)
        GPCR downstream signaling
    Hemostasis
    P2Y receptors
    Signaling by GPCR
    GPCR ligand binding

    2 PharmGKB Pathways for P2RY12
        Clopidogrel Pathway, Pharmacokinetics
    Platelet Aggregation Inhibitor Pathway, Pharmacodynamics


    P2RY12 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for P2RY12

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/143 Interacting proteins for P2RY12 (Q9H2443 ENSP000003072594) via UniProtKB, MINT, STRING, and/or I2D (see all 143)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GNAI2P048993, ENSP000003129994I2D: score=1 STRING: ENSP00000312999
    ADCY2ENSP000003429524STRING: ENSP00000342952
    ADCY6ENSP000003114054STRING: ENSP00000311405
    ADCY9ENSP000002940164STRING: ENSP00000294016
    ADRA2AENSP000002801554STRING: ENSP00000280155
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001973adenosine receptor signaling pathway ----
    GO:0007186G-protein coupled receptor signaling pathway ----
    GO:0007188adenylate cyclase-modulating G-protein coupled receptor signaling pathway IEA--
    GO:0007596blood coagulation TAS--
    GO:0007599hemostasis NAS11196645


    P2RY12 for ontologies           About GeneDecksing



    Drugs & Compounds
    for P2RY12 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    P2RY12 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for P2RY12 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    AR-C 66096 tetrasodium saltPotent and selective P2Y12 antagonist[145783-24-0]
    (±)-Clopidogrel hydrochlorideSelective P2Y12 antagonist[90055-48-4]
    PSB 0739Highly potent P2Y12 receptor antagonist[1052087-90-7]
    2-Methylthioadenosine triphosphate tetrasodium saltP2 purinergic agonist[43170-89-4]
    2-Methylthioadenosine diphosphate trisodium salt Potent agonist for P2Y1, P2Y12 and P2Y13 [34983-48-7]

    2 HMDB Compounds for P2RY12    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Clopidogrel(+)-(S)-Clopidogrel (see all 6)113665-84-2--

    6 DrugBank Compounds for P2RY12    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Clopidogrel-- 113665-84-2targetantagonist15199474 12615691 15308557 15269827 19463375 11752352 16835302 14668029 15291969
    TiclopidineTiclopidine HCL (see all 2)55142-85-3targetantagonist15816504 11752352 11454254 17110146 15955565
    EpoprostenolPGI2 (see all 3)35121-78-9targetagonist12297509 17155953 20085435
    Treprostinil-- 81846-19-7targetagonist17139284 17016423
    Prasugrel-- 150322-43-3targetantagonist18485086
    Ticagrelor-- 274693-27-5targetinhibitor--

    10/35 Novoseek chemical compound relationships for P2RY12 gene (see all 35)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cangrelor 96.5 26 20126830 (3), 19485932 (2), 20465804 (2), 15668190 (1) (see all 21)
    clopidogrel 94.4 90 16769602 (4), 19550317 (4), 20465804 (3), 17214996 (2) (see all 58)
    prasugrel 93.9 15 16754711 (1), 16769599 (1), 18506123 (1), 20050853 (1) (see all 15)
    2-mesadp 91.8 10 11502873 (3), 15345752 (2), 18404433 (1), 16268477 (1) (see all 6)
    adp 91.1 197 14644082 (6), 11502873 (4), 16236603 (4), 11422381 (3) (see all 99)
    mrs2179 90.9 7 14644082 (1), 15604418 (1), 18404433 (1), 18480058 (1) (see all 7)
    3'-phosphoadenosine 5'-phosphate 83.1 6 15203713 (1), 11422381 (1), 12588350 (1), 12871420 (1)
    aspirin 78.6 47 20465804 (5), 14597584 (3), 15668190 (2), 16236601 (2) (see all 23)
    ticlopidine 78.5 8 11413167 (1), 14610915 (1), 11722284 (1), 19334620 (1) (see all 7)
    convulxin 76.2 1 18574670 (1)

    1 PharmGKB related drug/compound annotation for P2RY12 gene
    Drug/compound PharmGKB Annotation
    clopidogrelCA  
    About this table

    Search CenterWatch for drugs/clinical trials and news about P2RY12 / P2Y12 

    Transcripts
    for P2RY12 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for P2RY12 gene (2 alternative transcripts): 
    NM_022788.3  NM_176876.1  

    Unigene Cluster for P2RY12:

    Purinergic receptor P2Y, G-protein coupled, 12
    Hs.591281  [show with all ESTs]
    Unigene Representative Sequence: AK292096
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000302632(uc011boa.2 uc003eyw.1 uc003eyx.1) ENST00000468596


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    Inhib. RNA
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    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat P2RY12

    Additional cDNA sequence: 

    AB052684.1 AF313449.1 AF321815.1 AJ320495.1 AK292096.1 AK303714.1 AK316575.1 AY136754.1 
    BC017898.1 

    3 DOTS entries:

    DT.92036952  DT.95366404  DT.101973036 

    24/28 AceView cDNA sequences (see all 28):

    AB052684 AY136754 NM_022788 AJ320495 NM_176876 BM713326 AW976204 CF147831 
    BQ893760 AF313449 AW015793 BI758761 BC017898 AI684536 AF321815 BI754688 
    AA810452 AL038524 BG708321 BG716155 BX488128 AI829607 AI307773 AW118661 

    GeneLoc Exon Structure


    Expression
    for P2RY12 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    P2RY12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAATAGTAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See P2RY12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for P2RY12

    SOURCE GeneReport for Unigene cluster: Hs.591281

    UniProtKB/Swiss-Prot: P2Y12_HUMAN, Q9H244
    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

        SABiosciences Expression via Pathway-Focused PCR Array including P2RY12: 
              G Protein Coupled Receptors 384HT in human mouse rat

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for P2RY12

    Orthologs
    for P2RY12 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for P2RY12 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia P2ry121 , 5 purinergic receptor P2Y, G-protein coupled 121, 5 83.13(n)1
    88.99(a)1    		   3 (29.01 cM)5
    708391  NM_027571.31  NP_081847.31 
     592162715 
    chicken
    (Gallus gallus)    		 Aves P2RY126
    		 Uncharacterized protein
    		 70(a)
    		 1 ↔ 1
    		 9(25101297-25102316)
    lizard
    (Anolis carolinensis)    		 Reptilia P2RY126
    		 --
    		 72(a)
    		 1 ↔ 1
    		 3(18046654-18047589)
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC1001496181 p2Y purinoceptor 12-like 59.02(n)
    58.69(a)    		   100149618  XM_001921929.3  XP_001921964.1 


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

    Paralogs
    for P2RY12 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for P2RY12 gene
    GPR822  P2RY132  GPR1712  GPR342  GPR872  P2RY142  
    13 SIMAP similar genes for P2RY12 using alignment to 1 protein entry:     P2Y12_HUMAN:
    P2RY13    P2RY14    GPR87    GPR171    GPR34    LPAR6
    P2RY5    PTAFR    GPR183    GPR68    LPAR4    CYSLTR2
    KPG_011

    P2RY12 for paralogs           About GeneDecksing



    Genomic Variants
    for P2RY12 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/877 NCBI SNPs in P2RY12 are shown (see all 877)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219178861,2
    		Cpathogenic234428862(-) AAACCC/TGGGAT 1 -- int10--------
    rs1127515471,2
    		C,--148428639(+) TTTTAA/CAAATT 1 -- int10--------
    rs7679621,2
    		C,A--148428778(-) ATATAG/TAAAAC 1 -- int13Minor allele frequency- T:0.00EA NA 56
    rs743989721,2
    		C,F,--148428864(+) TATTAA/GCTTAG 1 -- int11Minor allele frequency- G:0.04WA 118
    rs1121550061,2
    		C,F--148429322(+) CCCCTC/TGTTCT 1 -- int13Minor allele frequency- T:0.00CSA NA 4425
    rs776194751,2
    		C,--148429593(+) GGTTGG/TATGTT 1 -- int10--------
    rs1112572711,2
    		C,--148431008(+) GTAATA/CTTTTT 1 -- int10--------
    rs117128371,2
    		C,F,H--148431291(+) AAAACC/TTAATG 1 -- int15Minor allele frequency- T:0.00NS EA NA 420
    rs1170308091,2
    		C,F,--148432020(+) GACTTC/TTGCTT 1 -- int11Minor allele frequency- T:0.02EA 120
    rs43700021,2
    		H--148432152(+) TGGTTA/GTTTTC 1 -- int14Minor allele frequency- G:0.00NS EA 418

    HapMap Linkage Disequilibrium report for P2RY12 (151055168 - 151102600 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for P2RY12
         1 Indel: 46308
    Human Gene Mutation Database (HGMD): P2RY12

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing P2RY12
    DNA2.0 Custom Variant and Variant Library Synthesis for P2RY12

    Disorders / Diseases
    for P2RY12 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    P2RY12 for disorders           About GeneDecksing

    OMIM gene information: 600515   
    OMIM disorders: 609821  
    UniProtKB/Swiss-Prot: P2Y12_HUMAN, Q9H244
  • Defects in P2RY12 are the cause of 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

    20/24 diseases for P2RY12 (see all 24):    About MalaCards
    type 1 von willebrand disease    von willebrand's disease    hermansky-pudlak syndrome    carotid artery thrombosis
    type 2 diabetes mellitus    myocardial infarction    thromboembolism    bleeding disorder
    acute myocardial infarction    systemic lupus erythematosus    lupus erythematosus    thrombosis
    diabetes mellitus    coronary thrombosis    erythrocytosis    vascular disease
    multiple sclerosis    astrocytoma    kidney disease    atherosclerosis

    10/14 Novoseek disease relationships for P2RY12 gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thrombosis 60.1 10 19476973 (2), 14597584 (2), 19660606 (1), 10960076 (1) (see all 5)
    bleeding 44.5 7 20446120 (1), 19474710 (1), 20094648 (1), 17311506 (1) (see all 6)
    myocardial infarction 43 2 19334620 (1), 17707382 (1)
    coronary artery disease 38 6 20031628 (1), 17995973 (1), 15795539 (1), 17803810 (1) (see all 6)
    bleeding tendency 35 3 19237732 (1), 16194207 (1)
    cardiovascular diseases 29.1 4 19334620 (2), 12913786 (1), 19050170 (1)
    stroke 22.2 3 17707382 (2), 20210760 (1)
    glioma 18.8 4 11904146 (2), 11502873 (1), 14718252 (1)
    atherosclerosis 17.1 2 14662702 (1), 16476694 (1)
    vascular diseases 11.6 1 17707382 (1)

    Genetic Association Database (GAD): P2RY12
    Human Genome Epidemiology (HuGE) Navigator: P2RY12 (43 documents)

    Export disorders for P2RY12 gene to outside databases

    Publications
    for P2RY12 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for P2RY12 gene, integrated from 9 sources (see all 323):
    (articles sorted by number of sources associating them with P2RY12)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of the platelet P2T(AC) ADP receptor: pharmacological comparison with another ADP receptor, the P2Y1 receptor. (PubMed id 11502873)1, 2, 3, 9 Takasaki J.... Furuichi K. (2001)
    2. ADP is the cognate ligand for the orphan G protein-coupled receptor SP1999. (PubMed id 11104774)1, 2, 3 Zhang F.L....Monsma F.J. Jr. (2001)
    3. P2Y12 gene H2 haplotype is not associated with increased adenosine diphosphate-induced platelet aggregation after initiation of clopidogrel therapy with a high loading dose. (PubMed id 15795539)1, 4, 9 von Beckerath N....Kastrati A. (2005)
    4. Dimorphism in the P2Y1 ADP receptor gene is associated with increased platelet activation response to ADP. (PubMed id 15514209)1, 4, 9 Hetherington S.L....Samani N.J. (2005)
    5. Association of a functional polymorphism in the clopidogrel target receptor gene, P2Y12, and the risk for ischemic cerebrovascular events in patients with peripheral artery disease. (PubMed id 15933261)1, 4, 9 Ziegler S....Mannhalter C. (2005)
    6. Molecular bases of defective signal transduction in the platelet P2Y12 receptor of a patient with congenital bleeding. (PubMed id 12578987)1, 2, 9 Cattaneo M.... Ruggeri Z.M. (2003)
    7. P2Y12 H2 haplotype is associated with peripheral arterial disease: a case-control study. (PubMed id 14662702)1, 4, 9 Fontana P....Reny J.L. (2003)
    8. Adenosine diphosphate-induced platelet aggregation is associated with P2Y12 gene sequence variations in healthy subjects. (PubMed id 12912815)1, 4, 9 Fontana P....Gaussem P. (2003)
    9. Identification of the platelet ADP receptor targeted by antithrombotic drugs. (PubMed id 11196645)1, 2, 9 Hollopeter G....Conley P.B. (2001)
    10. Lack of association between the P2Y12 receptor gene polymorphism and platelet response to clopidogrel in patients with coronary artery disease. (PubMed id 16181985)1, 4 Angiolillo D.J....Macaya C. (2005)

    External Searches for P2RY12 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing P2RY12 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64805 HGNC: 18124 AceView: P2RY12 Ensembl:ENSG00000169313 euGenes: HUgn64805
    ECgene: P2RY12 H-InvDB: P2RY12

    Other Databases showing P2RY12 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing P2RY12 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for P2RY12 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for P2RY12 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for P2RY12 gene:
    Search GeneIP for patents involving P2RY12

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