Gene: P2RY12

Alternate names for this Gene: ADPG-R|BDPLT8|HORK3|P2T(AC)|P2Y(12)R|P2Y(AC)|P2Y(ADP)|P2Y(cyc)|P2Y12|SP1999

Gene 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3q25.1

Description of this Gene: purinergic receptor P2Y12

Type of Gene: protein-coding

Gene: MED12L

Alternate names for this Gene: NIZIDS|NOPAR|TNRC11L|TRALP|TRALPUSH

Gene Summary: The protein encoded by this gene is part of the Mediator complex, which is involved in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. The Mediator complex links gene-specific transcriptional activators with the basal transcription machinery.

Gene is located in Chromosome: 3

Location in Chromosome : 3q25.1

Description of this Gene: mediator complex subunit 12L

Type of Gene: protein-coding

rs9856118 in P2RY12;MED12L gene and Diverticular Diseases PMID 30177863 2018 Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease.