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Gene

P2RY12

purinergic receptor P2Y12

Summary

Cytogenetic location
3q25.1
Coordinates
Chromosome 3: 151,336,843–151,384,753 (GRCh38)
Exons
3 exons across 47.9 kb
Protein
342 amino acids
Inheritance
Autosomal recessive
Also known as
P2Y12, SP1999, HORK3
MANE Select transcript
ENST00000302632.4NM_022788.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Inherited Platelet Function Disorders

    • P2RY12-Related Platelet Disorder (Platelet-Type Bleeding Disorder 8)Autosomal recessive

      A recessive disorder of the platelet ADP receptor encoded by P2RY12, causing mild to moderate bleeding.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing about it helps plan bleeding prevention around surgery, dental work and childbirth, and avoid medicines that affect platelet function.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How P2RY12 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 3, with a bracket where P2RY12 sits. P2RY12 and 11 genes near it on chromosome 3, from 150,860,798 to 151,860,797.Chromosome 33q25.1p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q29151 Mb151.2 Mb151.4 Mb151.6 Mb151.8 MbMINDY4B: 150,870,376–150,905,439, reverse strandMINDY4B: 150,882,997–150,941,743, reverse strandCLRN1: 150,926,163–150,972,727, reverse strandCLRN1MED12L: 151,085,286–151,437,072, forward strandMED12LGPR171: 151,197,832–151,203,216, reverse strandGPR171P2RY14: 151,212,115–151,278,811, reverse strandP2RY14GPR87: 151,294,086–151,316,820, reverse strandGPR87P2RY13: 151,326,312–151,329,555, reverse strandP2RY13P2RY12: 151,336,843–151,384,753, reverse strandP2RY12IGSF10: 151,425,384–151,461,186, reverse strandIGSF10AADACL2: 151,733,916–151,761,339, forward strandAADACL2AADAC: 151,813,931–151,853,589, forward strandAADACDiagram of P2RY12: 3 exons on the reverse strand of chromosome 3Exon 3: 3 known disease-causing sitesExon 3: 151,336,843–151,338,859, 2,017 basesExon 2: 151,340,596–151,340,760, 165 basesExon 1: 151,384,692–151,384,753, 62 bases3215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.2 kb of the gene's 47.9 kb; 1,029 of those bases code for the protein.

How a genome test reads P2RY12

3

positions in P2RY12 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 47.9 kb of P2RY12, introns included, not only the 2.2 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). P2RY12 gene: purinergic receptor P2Y12. Retrieved 17 October 2026, from https://dantelabs.com/genes/p2ry12

Vancouver

Dante Labs. P2RY12 gene: purinergic receptor P2Y12 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/p2ry12

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