P2RY12 gene

purinergic receptor P2Y12

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Platelet-type bleeding disorder 8

From UniProt:

Bleeding disorder, platelet-type 8 (BDPLT8): 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. [MIM:609821]

Cytogenetic Location: 3q25.1, which is the long (q) arm of chromosome 3 at position 25.1

Molecular Location: base pairs 151,336,843 to 151,384,812 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q25.1, which is the long (q) arm of chromosome 3 at position 25.1
  • ADPG-R
  • BDPLT8
  • HORK3
  • P2T(AC)
  • P2Y(12)R
  • P2Y(AC)
  • P2Y(ADP)
  • P2Y(cyc)
  • P2Y12
  • SP1999