P2RY11 Chromosome 19

Purinergic receptor P2Y11
2 variants 2 Health Risk

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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 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]
Gene Info
Gene Group
P2Y receptors
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000244165
Associated Conditions (1)
Cataplexy and narcolepsy
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS12460842 Health Risk association Cataplexy and narcolepsy, Cataplexy and narcolepsy
RS2305795 Health Risk association Cataplexy and narcolepsy, Cataplexy and narcolepsy
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