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

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

rs121917885 in MED12L;P2RY12 gene and Bleeding Disorder Due To P2RY12 Defect PMID 12578987 2003 Molecular bases of defective signal transduction in the platelet P2Y12 receptor of a patient with congenital bleeding.

PMID 25428217 2015 Identification of a new dysfunctional platelet P2Y12 receptor variant associated with bleeding diathesis.

PMID 11196645 2001 Identification of the platelet ADP receptor targeted by antithrombotic drugs.

rs755459581 in MED12L;P2RY12 gene and Impaired ADP-induced platelet aggregation PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs1352887 in MED12L;P2RY12 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.