P2RY11

purinergic receptor P2Y11

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 coupled to the stimulation of the phosphoinositide and adenylyl cyclase pathways and behaves as a selective purinoceptor. Naturally occuring read-through transcripts, resulting from intergenic splicing between this gene and an immediately upstream gene (PPAN, encoding peter pan homolog), have been found. The PPAN-P2RY11 read-through mRNA is ubiquitously expressed and encodes a fusion protein that shares identity with each individual gene product. [provided by RefSeq, Jul 2008]

Known Variants27 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1246084219:10,222,195A/G—association
rs7301121419:10,222,205G/T——
rs14023729519:10,222,410G/A—benign
rs74823422719:10,224,469A/G—likely benign
rs76033356719:10,224,487C/A—likely benign
rs75334685419:10,224,496C/A—likely benign
rs75732812419:10,224,539C/T—uncertain significance
rs14546431219:10,224,547C/T—likely benign
rs374560119:10,224,548A/G—benign
rs14219641619:10,224,619C/T—benign
rs13915136719:10,224,629C/T—likely benign
rs7980033419:10,224,637C/T—benign
rs159932120519:10,224,694C/T—likely benign
rs11237120119:10,224,785A/G—likely benign
rs13948981619:10,224,844C/T—likely benign
rs11598627819:10,224,937G/A—benign
rs77497814119:10,224,964C/T—likely benign
rs13880187719:10,224,973C/T—likely benign
rs14589176019:10,225,012C/T—likely benign
rs7749697719:10,225,060C/T—benign
rs14783689019:10,225,115C/T—likely benign
rs11175262919:10,225,138G/A—likely benign
rs14697415319:10,225,189C/G—likely benign
rs6263873619:10,225,308A/G—benign
rs14713268519:10,225,381G/A—likely benign
rs7446227819:10,225,390C/G—benign
rs230579519:10,226,052G/Aregulatory region variantassociation

Gene information from NCBI Gene. Variant classifications from ClinVar.