P2RY12 Chromosome 3
Purinergic receptor P2Y12
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What This Gene Does
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]
Gene Info
Gene Group
P2Y receptors
Locus Type
gene with protein product
Location
3q25.1
Ensembl
ENSG00000169313
Associated Conditions (6)
Platelet-type bleeding disorder 8
Thrombocytopenia
Abnormal bleeding
Abnormal platelet function
P2RY12-related disorder
Impaired ADP-induced platelet aggregation
Key Variants
RS2473277388
Conflicting classifications of pathogenicity
Platelet-type bleeding disorder 8, Platelet-type bleeding disorder 8
Health Risk
RS557043245
Conflicting classifications of pathogenicity
Health Risk
RS771379536
Conflicting classifications of pathogenicity
Health Risk
RS778790805
Conflicting classifications of pathogenicity
Thrombocytopenia, Abnormal bleeding, Thrombocytopenia
Health Risk
RS1577367082
Likely pathogenic
Abnormal platelet function, Abnormal platelet function
Health Risk
RS2473271725
Likely pathogenic
Platelet-type bleeding disorder 8, Platelet-type bleeding disorder 8
Health Risk
RS923308300
Likely pathogenic
P2RY12-related disorder, P2RY12-related disorder
Health Risk
RS1560045738
Pathogenic
Platelet-type bleeding disorder 8, Platelet-type bleeding disorder 8
Health Risk
RS755459581
Pathogenic/Likely pathogenic
Platelet-type bleeding disorder 8, Impaired ADP-induced platelet aggregation, Platelet-type bleeding disorder 8
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2473277388 | Health Risk | Conflicting classifications of pathogenicity | Platelet-type bleeding disorder 8, Platelet-type bleeding disorder 8 |
| RS557043245 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS771379536 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS778790805 | Health Risk | Conflicting classifications of pathogenicity | Thrombocytopenia, Abnormal bleeding, Thrombocytopenia |
| RS1577367082 | Health Risk | Likely pathogenic | Abnormal platelet function, Abnormal platelet function |
| RS2473271725 | Health Risk | Likely pathogenic | Platelet-type bleeding disorder 8, Platelet-type bleeding disorder 8 |
| RS923308300 | Health Risk | Likely pathogenic | P2RY12-related disorder, P2RY12-related disorder |
| RS1560045738 | Health Risk | Pathogenic | Platelet-type bleeding disorder 8, Platelet-type bleeding disorder 8 |
| RS755459581 | Health Risk | Pathogenic/Likely pathogenic | Platelet-type bleeding disorder 8, Impaired ADP-induced platelet aggregation, Platelet-type bleeding disorder 8 |