P2RY12 purinergic receptor P2Y12 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 3q25.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (151336843..151384753, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (154087845..154135691, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (151054631..151102541, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

High-mobility group box 1 increases platelet surface P2Y12 and platelet activation in sickle cell disease.
Title: High-mobility group box 1 increases platelet surface P2Y12 and platelet activation in sickle cell disease.
Platelet P2Y12 signalling pathway in the dysregulated immune response during sepsis.
Title: Platelet P2Y(12) signalling pathway in the dysregulated immune response during sepsis.
Cell Surface Platelet Tissue Factor Expression: Regulation by P2Y12 and Link to Residual Platelet Reactivity.
Title: Cell Surface Platelet Tissue Factor Expression: Regulation by P2Y(12) and Link to Residual Platelet Reactivity.
P2Y12 receptor gene polymorphisms are associated with epilepsy.
Title: P2Y12 receptor gene polymorphisms are associated with epilepsy.
Association between P2Y1 and P2Y12 polymorphisms and acute myocardial infarction and ADP-induced platelet aggregation.
Title: Association between P2Y1 and P2Y12 polymorphisms and acute myocardial infarction and ADP-induced platelet aggregation.
Correlation P2Y12 Genetic Polymorphism As Risk Factor of Clopidogrel Resistance in Indonesian Stroke Patients.
Title: Correlation P2Y12 Genetic Polymorphism As Risk Factor of Clopidogrel Resistance in Indonesian Stroke Patients.
Influence of genetic polymorphisms in P2Y12 receptor signaling pathway on antiplatelet response to clopidogrel in coronary heart disease.
Title: Influence of genetic polymorphisms in P2Y12 receptor signaling pathway on antiplatelet response to clopidogrel in coronary heart disease.
Inhibiting P2Y12 receptor relieves LPS-induced inflammation and endothelial dysfunction.
Title: Inhibiting P2Y12 receptor relieves LPS-induced inflammation and endothelial dysfunction.
Single-nucleotide polymorphisms of the SLC17A9 and P2RY12 genes are significantly associated with phantom tooth pain.
Title: Single-nucleotide polymorphisms of the SLC17A9 and P2RY12 genes are significantly associated with phantom tooth pain.
Platelet miR-107 Participates in Clopidogrel Resistance after PCI Treatment by Regulating P2Y12.
Title: Platelet miR-107 Participates in Clopidogrel Resistance after PCI Treatment by Regulating P2Y12.

Submit: New GeneRIF Correction See all GeneRIFs (202)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Platelet-type bleeding disorder 8 MedGen: C1853278 OMIM: 609821 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AB062981 (e-PCR)
- UniSTS:479820

G54348 (e-PCR)
- UniSTS:146769

P2RY12__5801 (e-PCR)
- UniSTS:463757

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled ADP receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables G protein-coupled ADP receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables G protein-coupled adenosine receptor activity	IEA Inferred from Electronic Annotation more info
enables G protein-coupled purinergic nucleotide receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables guanyl-nucleotide exchange factor activity	TAS Traceable Author Statement more info

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 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 more info	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

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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)

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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

NG_016019.1 RefSeqGene

Range

4945..52914

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_569

mRNA and Protein(s)

NM_022788.5 → NP_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:26 → 310

7tmA_P2Y12; P2Y purinoceptor 12, member of the class A family of seven-transmembrane G protein-coupled receptors
NM_176876.3 → NP_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:26 → 310

7tmA_P2Y12; P2Y purinoceptor 12, member of the class A family of seven-transmembrane G protein-coupled receptors