Home > Gene Browser > P2RY2

P2RY2

Synonyms
HP2U, P2RU1, P2U, P2U1, P2UR, P2Y2, P2Y2R
External resources
Summary
The product of this gene belongs to the family of P2 receptors, which is activated by extracellular nucleotides and subdivided into P2X ligand-gated ion channels and P2Y 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, found on many cell types, is activated by ATP and UTP and is reported to be overexpressed on some cancer cell types. It is involved in many cellular functions, such as proliferation, apoptosis and inflammation. Three transcript variants encoding the same protein have been identified for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
1,227
Likely benign
602
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on P2RY2 gene.

Phenotype class
Patients in 3billion (%)

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