U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    P2RY12 purinergic receptor P2Y12 [ Homo sapiens (human) ]

    Gene ID: 64805, updated on 29-Jan-2024

    Summary

    Official Symbol
    P2RY12provided by HGNC
    Official Full Name
    purinergic receptor P2Y12provided by HGNC
    Primary source
    HGNC:HGNC:18124
    See related
    Ensembl:ENSG00000169313 MIM:600515; AllianceGenome:HGNC:18124
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HORK3; P2Y12; ADPG-R; BDPLT8; SP1999; P2T(AC); P2Y(AC); P2Y(12)R; P2Y(ADP); P2Y(cyc)
    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 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]
    Expression
    Biased expression in brain (RPKM 25.8), fat (RPKM 4.8) and 4 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See P2RY12 in Genome Data Viewer
    Location:
    3q25.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (151336843..151384753, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (154087845..154135691, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (151054631..151102541, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene mediator complex subunit 12L Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:151033994-151035193 Neighboring gene G protein-coupled receptor 87 Neighboring gene purinergic receptor P2Y13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20701 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:151110665-151111260 Neighboring gene Sharpr-MPRA regulatory region 9761 Neighboring gene immunoglobulin superfamily member 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:151201363-151201864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:151201865-151202364 Neighboring gene mitochondrial ribosomal protein L42 pseudogene 6 Neighboring gene long intergenic non-protein coding RNA 2066 Neighboring gene microRNA 5186

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in G protein-coupled adenosine receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in G protein-coupled purinergic nucleotide receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in calcium-mediated signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in calcium-mediated signaling using extracellular calcium source ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell projection organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to ATP ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cerebral cortex radial glia-guided migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hemostasis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in lamellipodium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in monoatomic ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phospholipase C-activating G protein-coupled receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in platelet activation TAS
    Traceable Author Statement
    more info
     
    involved_in platelet aggregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell adhesion mediated by integrin ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of chemotaxis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of integrin activation by cell surface receptor linked signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of microglial cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of microglial cell migration TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of monoatomic ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of ruffle assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of ruffle assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of chemotaxis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of chemotaxis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of microglial cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to axon injury ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in substrate-dependent cell migration, cell extension ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in visual system development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cell body membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell projection membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell surface HDA PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    P2Y purinoceptor 12
    Names
    ADP-glucose receptor
    G-protein coupled receptor SP1999
    Gi-coupled ADP receptor HORK3
    P2Y12 platelet ADP receptor
    purinergic receptor P2RY12
    purinergic receptor P2Y, G-protein coupled, 12
    putative G-protein coupled receptor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016019.1 RefSeqGene

      Range
      4945..52914
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_569

    mRNA and Protein(s)

    1. NM_022788.5NP_073625.1  P2Y purinoceptor 12

      See identical proteins and their annotated locations for NP_073625.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA810452, AF313449, AK292096, AW015793, AW976204, DB306976, DC313627
      Consensus CDS
      CCDS3159.1
      UniProtKB/Swiss-Prot
      D3DNJ5, Q546J7, Q9H244
      UniProtKB/TrEMBL
      A0A2H4P6E7, A8K7T1, B2RE67
      Related
      ENSP00000307259.4, ENST00000302632.4
      Conserved Domains (1) summary
      cd15150
      Location:26310
      7tmA_P2Y12; P2Y purinoceptor 12, member of the class A family of seven-transmembrane G protein-coupled receptors
    2. NM_176876.3NP_795345.1  P2Y purinoceptor 12

      See identical proteins and their annotated locations for NP_795345.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA810452, AF313449, AJ320495, AK292096, AW015793, AW976204, DA267276, DA343254, DB306976
      Consensus CDS
      CCDS3159.1
      UniProtKB/Swiss-Prot
      D3DNJ5, Q546J7, Q9H244
      UniProtKB/TrEMBL
      A0A2H4P6E7, A8K7T1, B2RE67
      Conserved Domains (1) summary
      cd15150
      Location:26310
      7tmA_P2Y12; P2Y purinoceptor 12, member of the class A family of seven-transmembrane G protein-coupled receptors

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      151336843..151384753 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      154087845..154135691 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)